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  • Multiple Endocrine Neoplasia Type 1 Wikipedia
    Malignant islet cell tumors due to MEN 1 syndrome often have a more benign course than do sporadically occurring malignant islet cell tumors. [ citation needed ] About 40% of islet cell tumors originate from a β-cell , secrete insulin ( insulinoma ), and can cause fasting hypoglycemia . β-cell tumors are more common in patients < 40 years of age. ... This is known as Knudson's two-hit hypothesis [3] and is a common feature seen with inherited defects in tumor suppressor genes.
  • Cornelia De Lange Syndrome 1 OMIM
    Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. ... Allanson et al. (1997) evaluated 43 subjects with de Lange syndrome, 30 with classic features and 13 with the mild phenotype. ... Melegh et al. (1996) described a newborn boy with clinical features of de Lange syndrome who manifested dyspnea, hypertonia, and hyperthermia. ... In the mother of a child with typical features, de Die-Smulders et al. (1992) observed mild manifestations. ... Features that proved to be misleading included full or flat brows, a prominent nasal bridge or bulbous tip, and/or a normal or prominent chin.
    NIPBL, RAD21, HDAC8, SMC3, SMC1A, BRD4, KMT2A, SETD5, PDS5A, ATR, LZTR1, SOS1, RIT1, RAF1, PTPN11, KRAS, CENPJ, CEP63, GPT, CREBBP, ESCO2, NAALADL2, TNKS, MAU2, PHIP, EPS15L1, GALNT14, DYM, GSC, ANKRD11, AFF4, ARSD, PDS5B, STAG2, CTCF, STAG1, CHRD, SHOX2, MYC, HDAC2, GRM1, GH1, FOXF1, EP300, DDX11, CRABP2, CARS1, NIPBL-DT
    • Cornelia De Lange Syndrome GeneReviews
      Diagnosis Cornelia de Lange syndrome (CdLS) constitutes a clinical spectrum, with some individuals having milder features and others displaying more severe, classic features. ... Growth may be less severely affected in those with overall milder clinical features and/or mosaic pathogenic variants. ... Those affected individuals with classic features are more likely to have severe-to-profound intellectual disability (see Genotype-Phenotype Correlations). ... Often display growth restriction, minor skeletal anomalies, and facial features that overlap with CdLS [Deardorff et al 2012, Krab et al 2020]. ... However, with the exception of the low-hanging columella, the facial features in EP300 -RSTS are less marked.
    • Cornelia De Lange Syndrome 3 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. Clinical Features Deardorff et al. (2007) identified a patient with a mild form of Cornelia de Lange syndrome who carried a mutation in the SMC3 gene. ... Gil-Rodriguez et al. (2015) reported the clinical features of 16 patients with CDLS3 confirmed by genetic analysis, including the patient reported by Deardorff et al. (2007) and 5 patients reported by Ansari et al. (2014). Many patients had CDLS-like craniofacial features, although severe features were typically infrequent or absent. ... Intellectual disability was a prominent feature, although behavioral problems were not frequently reported and many were described as having friendly personalities. Cardiac malformations occurred in about 56%, and many had some degree of pulmonic stenosis. Additional highly variable features included gastroesophageal reflux, cutis marmorata, short neck, micrognathia, and restriction of elbow movements, among others.
    • Cornelia De Lange Syndrome 5 OMIM
      Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. ... For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. Clinical Features Kaiser et al. (2014) reported the clinical features of 35 individuals with CDLS5. ... Female carriers had learning disorders and recognizable facial features, including high malar bones and broad nasal tip. ... Despite the small numbers and the varied clinical features in females due to random X-chromosome inactivation, the 5 patients reported by Deardorff et al. (2012) demonstrated growth, cognitive, and facial features consistent with those caused by mutations in NIPBL (classic Cornelia de Lange syndrome). ... In an international cohort of 586 individuals with features of CDLS and overlapping phenotypes, Kaiser et al. (2014) found that 25 (4%) probands had mutations in the HDAC8 gene.
    • Cornelia De Lange Syndrome Wikipedia
      The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows , a small nose , small stature, developmental delay, long or smooth philtrum , thin upper lip and downturned mouth . [1] The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange , who described it in 1933. ... Unsourced material may be challenged and removed. ( September 2016 ) ( Learn how and when to remove this template message ) The phenotype of CdLS is highly varied and is described as a spectrum; from Classic CdLS (with a greater number of key features) to mild variations with only a few features. Some people will have a small number of features but don't have CdLS. [1] Key features: Long and/or thick eyebrows Short nose Concave nasal ridge and/or upturned nasal tip Long and/or smooth philtrum Thin upper lip vermilion and/or downturned corners of mouth Missing fingers or toes Congenital diaphragmatic hernia Other suggestive features: Developmental delay and/or intellectual disability Small prenatal and birth size / weight Small stature Microcephaly (prenatally and/or postnatally) Small hands and/or feet Short fifth finger Hirsutism The following health conditions are more common in people with CdLS than in the general population. ... Defects in these functions are theorised to underlie some of the features of CdLS. [11] In particular, defective DNA repair may underlie the features of premature aging. [3] Diagnosis [ edit ] The diagnosis of CdLS is primarily based on clinical findings by a clinical geneticist; and in some cases may be confirmed through laboratory testing. [5] Treatment [ edit ] Often, an interdisciplinary approach is recommended to treat the issues associated with CdLS. ... If successful this will be the first treatment for CdlS. [13] History [ edit ] The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888–1969), a German physician who wrote about the distinct features of the disease from his 19-year-old patient, [14] followed in 1933 by Cornelia Catharina de Lange (1871–1950), [15] a Dutch pediatrician after whom the disorder has been named. [16] CdLS was formerly known as Brachmann-de Lange Syndrome. [17] References [ edit ] ^ a b c Hennekam, Raoul C.; Balkom, Ingrid D.
    • Cornelia De Lange Syndrome Orphanet
      Clinical description Distinctive facial features include: well-defined curved and confluent eyebrows, long eyelashes, anteverted nares, micrognathia, and downturned corners of the mouth with a thin upper lip.
    • Cornelia De Lange Syndrome GARD
      Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 60% of people affected by CdLS have a disease-causing variation (mutation) in the NIPBL gene, and about 10% of cases are caused by mutations in one of four known genes : SMC1A , SMC3 , HDAC8 and RAD21 . In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant ( NIPBL , SMC2 , or RAD21 ) or X-linked ( SMC1A or HDAC8 ) manner.
    • Cornelia De Lange Syndrome 4 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS (122470). Clinical Features Deardorff et al. (2012) reported 2 unrelated patients, a boy and a girl, with a phenotype suggestive of Cornelia de Lange syndrome. ... The patient reported by Wuyts et al. (2002) had mild mental retardation, complex partial seizures, multiple exostoses, hypertrichosis, and striking facial features, including small head, thick eyebrows with synophrys, telecanthus, downward slanting palpebral fissures, broad nose, long philtrum, and thin upper lip. ... He was dysmorphic, with microcephaly, prominent eyebrows, long eyelashes, thin upper lip, and sparse, fine scalp hair. Other features included cutis marmorata, hemivertebrae, exostoses, and borderline developmental delay. ... The 2 patients first reported by Deardorff et al. (2012) had short stature, microcephaly, thick eyebrows, long eyelashes, wide nasal bridge, and exostoses. One patient had additional features, such as cutis marmorata, coxa vara, long fourth metacarpal, cleft palate, and micrognathia, but normal cognition. ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Head - Microcephaly Face - Long philtrum - Smooth philtrum Eyes - Thick eyebrows - Synophrys - Arched eyebrows - Long lashes Nose - Wide nasal bridge - Broad nasal bridge Mouth - Thin upper lip - Cleft palate (less common) ABDOMEN Gastrointestinal - Gastroesophageal reflux (less common) SKELETAL Spine - Vertebral clefting (in some patients) - Hemivertebrae (in some patients) Limbs - Exostoses (in patients with larger deletions involving the EXT1 gene) - Radioulnar abnormalities (in some patients) Hands - Brachydactyly (in some patients) - Syndactyly (in some patients) SKIN, NAILS, & HAIR Skin - Cutis marmorata (in some) Hair - Thick eyebrows - Synophrys - Arched eyebrows - Long lashes NEUROLOGIC Central Nervous System - Cognitive delay, mild to severe MISCELLANEOUS - Variable phenotype - Patients with contiguous gene deletion of 8q24 have more severe features - Two patients with point mutations in RAD21 have been reported (last curated July 2012) MOLECULAR BASIS - Caused by mutation in the homolog of the S.
    • Cornelia De Lange Syndrome 2 OMIM
      Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. ... For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. Clinical Features Musio et al. (2006) reported 4 affected males with SMC1A mutations and similar CDLS symptoms: typical facial dysmorphisms, mental retardation in the moderate to severe range, and growth deficits with feeding problems in childhood. ... She had very poor growth, with low weight and height, and microcephaly. Craniofacial features included marked microbrachycephaly, skull asymmetry with right-sided flattening, prominent metopic suture, and bitemporal narrowing. She had sparse hair, deep-set eyes, arched eyebrows, mild synophrys, slightly anteriorly rotated ears with long and narrow earlobes, full cheeks, smooth philtrum, small mandible, widely spaced teeth, esotropia, and mild coloboma of both upper lids. Other features included short neck, broad thorax with widely spaced nipples, scoliosis, and mild distal limb anomalies.
  • Disease X Wikipedia
    It is also the case that where you have a new disease there is no resistance in the population and that means it can spread fast". [10] Bacterial infection [ edit ] In September 2019, Public Health England (PHE) reported that the increasing antibiotic resistance of bacteria, even to "last-resort" antibiotics such as carbapenems and colistin , could also turn into a potential Disease X, citing the antibiotic resistance in gonorrhea as an example. [36] In popular culture [ edit ] In 2018, the Museum of London ran an exhibition titled "Disease X: London's next epidemic?", hosted for the centenary of the Spanish flu epidemic from 1918. [37] [38] The term features in the title of several fiction books that involve global pandemic diseases, such as Disease (2020), [39] and Disease X: The Outbreak (2019). [40] See also [ edit ] Coalition for Epidemic Preparedness Innovations (CEPI) Global Research Collaboration for Infectious Disease Preparedness (GloPIR-R) Synthetic virology Bioterrorism Planet X References [ edit ] ^ a b c Daszak, Peter (22 February 2020). ... External links [ edit ] Wikiquote has quotations related to: Disease X Blueprint priority diseases World Health Organization (6-7 February 2018) Prioritizing diseases for research and development in emergency contexts World Health Organisation (March 2018) (Video) What is Disease X World Health Organization (16 March 2018) The mystery viruses far worse than flu BBC News (November 2018) v t e Concepts in infectious disease Transmission Basic concepts Asymptomatic carrier Host Incubation period Index case Infectious period Latent period Natural reservoir Subclinical infection Super-spreader Modes Human-to-human transmission Horizontal Vertical Cross-species transmission Spillover infection Vector Zoonosis Reverse zoonosis Routes Airborne disease Blood-borne disease Foodborne illness Waterborne disease Hospital-acquired infection Fomite Fecal-oral route Sexual Modelling Attack rate Basic reproduction number Compartmental models in epidemiology Critical community size Herd immunity Infection rate Serial interval Transmission risks and rates Medication Antimicrobial Antibiotic Antiviral drug Antimicrobial resistance Immunotherapy Phage therapy Vaccination Emerging infections Disease X Emergent virus Other Discovery of disease-causing pathogens Eradication of infectious diseases Pandemic v t e COVID-19 pandemic SARS-CoV-2 (virus) COVID-19 (disease) Timeline Pre-pandemic Crimson Contagion Disease X Event 201 Exercise Cygnus 2019 2020 January February responses March responses April responses May responses June responses July responses August responses September responses October responses November responses December responses 2021 January Locations Africa Northern Algeria Canary Islands Ceuta Egypt Libya Mauritania Melilla Morocco Sudan Tunisia Western Sahara Sahrawi Arab Democratic Republic Eastern Burundi Comoros Djibouti Eritrea Ethiopia Kenya Madagascar Mauritius Mayotte Réunion Rwanda Seychelles Somalia Puntland Somaliland South Sudan Tanzania Uganda Southern Angola Botswana Eswatini Lesotho Malawi Mozambique Namibia South Africa Zambia Zimbabwe Central Cameroon Central African Republic Chad Democratic Republic of the Congo Republic of the Congo Gabon São Tomé and Príncipe Western Benin Burkina Faso Cape Verde Equatorial Guinea Gambia Ghana timeline Guinea Guinea-Bissau Ivory Coast Liberia Mali Niger Nigeria Senegal Sierra Leone Togo Asia Central / North Kazakhstan Kyrgyzstan Russia timeline Tajikistan Turkmenistan Uzbekistan East Hong Kong Japan timeline North Korea South Korea Macau Mongolia Taiwan China Beijing Heilongjiang Henan Hubei lockdown Inner Mongolia Liaoning Shanghai Sichuan Tibet Xinjiang South Afghanistan timeline Bangladesh Bhutan Maldives Nepal timeline Pakistan timeline Sri Lanka India timeline January–May 2020 June–December 2020 economic impact evacuations lockdown migrant workers' crisis union government response Operation Namaste state government responses ) Andaman and Nicobar Islands Andhra Pradesh Arunachal Pradesh 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timeline Cyprus Northern Cyprus Czech Republic Denmark Faroe Islands Estonia Finland Åland Islands France Guadeloupe French Guiana Réunion Martinique Mayotte Saint Martin Germany North Rhine-Westphalia Greece Hungary Iceland Ireland timeline January–June 2020 July–December 2020 economic impact social impact Italy lockdown Latvia Liechtenstein Lithuania Luxembourg Malta Netherlands Norway Poland Portugal Romania timeline Piatra Neamț hospital fire Slovakia Slovenia Spain timeline Asturias Canary Islands Ceuta Community of Madrid Melilla Sweden timeline government response Switzerland North America Mexico timeline Central America Belize Costa Rica El Salvador Guatemala Honduras Nicaragua Panama Canada timeline economic impact Alberta British Columbia Manitoba New Brunswick Newfoundland and Labrador Northwest Territories Nova Scotia Nunavut Ontario timeline Peel Region Toronto Prince Edward Island Quebec Montreal Saskatchewan Yukon Caribbean Antigua and Barbuda Bahamas Barbados British 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  • Basal Cell Nevus Syndrome OMIM
    One of the patients had astrocytoma with severe hydrocephalus. Other features included pits of the palms and soles. ... Schwartz (1978) noted hamartomatous polyps of the stomach and mesenteric cysts as features of the basal cell nevus syndrome. ... Lo Muzio et al. (1999) described the clinical features of Gorlin syndrome in northern Italy. ... Palmar/plantar pits were the most frequent feature seen in affected individuals at all ages. ... Midro et al. (2004) described an 11-year-old girl with an interstitial deletion of 9q22.32-q33.2 associated with a familial translocation t(9;17)(q34.11;p11.2) who had clinical features consistent with basal cell nevus syndrome and some features of nail-patella syndrome (NPS; 161200).
    GJA1, PTCH1, PTCH2, SUFU, ADRA1D, BMP2, CYP1B1, EYA4, PLIN1, PLXNA2, MMRN1, TWIST2
    • Oculodentodigital Dysplasia, Autosomal Recessive OMIM
      Oculodentodigital dysplasia is usually inherited as an autosomal dominant disorder (164200), which is also caused by mutation in the GJA1 gene. Clinical Features Traboulsi et al. (1986) proposed the existence of a recessive form of oculodentoosseous dysplasia with more severe ocular affection than in the dominant form. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Other - Failure to thrive HEAD & NECK Head - Brachycephaly Face - Frontal bossing - Long philtrum - Maxillary hypoplasia - Micrognathia Ears - Low-set ears - Prominent ear lobes Eyes - Hypoplastic eyebrows - Sparse eyelashes - Telecanthus - Short palpebral fissures - Downslanting palpebral fissures - Myopia - Microphthalmia - Microcornea - Cataract - Persistent pupillary membrane Nose - Long narrow nose - Hypoplastic nasal alae Mouth - Small mouth - Thin lips Teeth - Delayed tooth eruption - Hypoplastic teeth - Malocclusion - Prominent upper incisors - Dental crowding SKELETAL - Delayed bone age Skull - Large fontanelles at birth - Widely separated sutures at birth - Brachycephaly - Frontal bossing Hands - Small hands - Variable cutaneous syndactyly involving fingers 3, 4, and 5 - Fifth-finger clinodactyly - Enlarged distal interphalangeal joints Feet - Small feet - Enlarged distal interphalangeal joints SKIN, NAILS, & HAIR Hair - Sparse fine hair NEUROLOGIC Central Nervous System - Hypotonia at birth - Psychomotor retardation, mild - Abnormal gray and white matter differentiation in frontal, occipital, and cerebellar regions on CT scan ENDOCRINE FEATURES - Low insulin-like growth factor-I (IGF1 147440 ) levels - Abnormal growth hormone ( 139250 ) response to stimulus MOLECULAR BASIS - Caused by mutation in the alpha-1 gap junction protein gene (GJA1, 121014.0016 ) ▲ Close
    • Oculodentodigital Dysplasia Wikipedia
      Contents 1 Signs and symptoms 2 Genetics 3 Epidemiology 4 References 5 External links Signs and symptoms [ edit ] People with ODD syndrome often have a characteristic appearance. Visible features of the condition include: [1] small teeth that are prone to dental caries because of underdeveloped tooth enamel; a long, thin nose; unusually small eyes; and type III syndactyly of the fourth and fifth fingers.
    • Oculodentodigital Dysplasia GARD
      Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited in an autosomal dominant manner. Oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing. Management is based on treating the specific symptoms that each affected person exhibits.
    • Oculodentodigital Dysplasia MedlinePlus
      Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly ) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis ), brittle nails, an unusual curvature of the fingers (camptodactyly ), syndactyly of the toes , small head size (microcephaly ), and an opening in the roof of the mouth (cleft palate ). ... Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.
    • Oculodentodigital Dysplasia OMIM
      In 2 unpublished pedigrees, Renwick (1967) found that a constant and characteristic feature of the syndrome is the absence of the middle phalanx of those toes (second through fifth) that normally have 3 phalanges. Rajic and De Veber (1966) reported a family with many affected members in 3 generations but no male-to-male transmission. Eye features included microphthalmia, microcornea, and glaucoma. ... With photographs they traced the development of the facial features. Conductive deafness was present in 1 of the 3 and had been reported in 6 previous cases. ... The proband was a 40-year-old woman who had the characteristic facial features of ODDD, with a flat face, pinched nose, hypoplastic alae nasi, mild bilateral ptosis, and small, crowded teeth. ... Expression patterns and phenotypic features of Gja1 mutant animals, reported by others, were considered compatible with the pleiotropic clinical presentation of ODDD.
    • Oculodentodigital Dysplasia Orphanet
      Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. Epidemiology To date, approximately 250 cases have been described worldwide (the majority of whom were white individuals). Clinical description The disease is characterized by wide intra- and interfamilial phenotypic variability. The typical craniofacial anomalies include a thin nose with hypoplastic alae nasi, small anteverted nares and a prominent columella, mandibular overgrowth, cleft palate, and microcephaly. Skeletal manifestations consist of syndactyly (involving the 4th and 5th fingers and/or 2nd to 4th toes), camptodactyly, and clinodactyly due to hypoplasia or aplasia of the middle phalanges.
  • Crossbite Wikipedia
    Unilateral crossbites can present with following features in a child Lower midline deviation [14] to the crossbite side Class 2 Subdivision relationships Temporomandibular disorders [15] Treatment [ edit ] A child with posterior crossbite should be treated immediately if the child shifts their mandible on closing, which is often seen in a unilateral crossbite as mentioned above. ... "A multiple logistic regression analysis of the risk and relative odds of temporomandibular disorders as a function of common occlusal features". Journal of Dental Research . 72 (6): 968–979. doi : 10.1177/00220345930720061301 . ... External links [ edit ] Classification D ICD - 10 : K07.2 ICD - 9-CM : 524.27 v t e Orthodontics Diagnosis Bolton analysis Cephalometric analysis Cephalometry Dentition analysis Failure of eruption of teeth Little's Irregularity Index Malocclusion Scissor bite Standard anatomical position Tooth ankylosis Tongue thrust Conditions Overbite Open bite Crossbite Prognathism Retrognathism Maxillary hypoplasia Condylar hyperplasia Overeruption Mouth breathing Appliances ACCO appliance Archwire Activator appliance Braces Damon system Elastics Frankel appliance Invisalign Lingual arch Lip bumper List of orthodontic functional appliances List of palatal expanders Lingual braces Headgear Orthodontic technology Orthodontic spacer Palatal lift prosthesis Palatal expander Quad helix Retainer SureSmile Self-ligating braces Splint activator Twin Block Appliance Procedures Anchorage (orthodontics) Cantilever mechanics Fiberotomy Interproximal reduction Intrusion (orthodontics) Molar distalization SARPE Serial extraction Materials Beta-titanium Nickel titanium Stainless steel TiMolium Elgiloy Ceramic Composite Notable contributors Edward Angle Spencer Atkinson Clifford Ballard Raymond Begg Hans Peter Bimler Samir Bishara Arne Björk Charles B.
  • Paragangliomas 4 OMIM
    For a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (168000). Clinical Features Bogdasarian and Lotz (1979) reported a family in which affected individuals had multiple catecholamine-secreting head and neck paragangliomas and retroperitoneal pheochromocytomas. ... She was initially found to have a paravertebral extraadrenal pheochromocytoma with features of a paraganglioma on histologic examination of the resected tumor, but further analysis showed an area with morphology of a differentiating neuroblastoma. ... SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SDHD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors. For the index cases, there was no difference between 43 SDHB and 19 SDHD mutation carriers in the time to first diagnosis (34 vs 28 years, respectively; p = 0.3).
    SDHB, SDHC, SDHD, PRDM2
    • Hereditary Pheochromocytoma-Paraganglioma Orphanet
      A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.
  • Coffin-Lowry Syndrome GeneReviews
    Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. ... The authors are aware of an individual with a proven RPS6KA3 pathogenic missense variant who is able to work in a fast-food restaurant [C Skinner, personal communication]. ... Craniofacial. Characteristic craniofacial features (see Figure 1, Figure 2, and Figure 3) may be more apparent with age. ... Individuals with a variety of chromosome disorders may have features of Coffin-Lowry syndrome. Two examples: McCandless et al [2000] reported a family with del(10)(q25.1q25.3) in which affected members had findings suggestive of CLS. Concannon et al [2002] reported an individual with features of CLS and a complex chromosome rearrangement (involving chromosomes 2,3,7, and 11).
    RPS6KA3, RPS6, LRP4, ARX, MAPKAP1, CRLS1, KRT20, MBTPS2, IL1RAPL1, PQBP1, HSD17B6, WRN, COL2A1, CREB1, PDHA1, MUC6, MUC5AC, HSF1, AFF2, EDNRB, DMD, DLG3, C17orf97
    • Coffin-Lowry Syndrome OMIM
      Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked mental retardation-19 (MRX19; 300844), a milder disorder without skeletal anomalies. Clinical Features As described by Coffin et al. (1966) in 2 unrelated adolescent boys, the features of CLS are mental retardation with peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by x-ray, and pectus carinatum. ... Arrested hydrocephalus may also be a feature. The disorder was transmitted through 3 generations, with no instance of male-to-male transmission. ... Young (1988) pictured the facial features of 2 pairs of brothers and a pair of sisters with this disorder. ... The phenotype was unusual in that the degree of mental retardation and other features was milder than had been reported. ... McCandless et al. (2000) reported a man with features of Coffin-Lowry syndrome, including severe mental retardation, short stature, coarse facies, patulous lips, and characteristic radiographic hand findings, with a cytogenetic deletion of chromosome 10, 46,XY,del(10)(q25.1q25.3).
    • Coffin-Lowry Syndrome Orphanet
      Male patients are generally moderately to severely affected while most female carriers have mild features. Clinical description Severe clinical presentation was reported in the first male patients described.
    • Coffin-Lowry Syndrome GARD
      Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis , other skeletal abnormalities, stimulus-induced drop episodes , intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.
    • Coffin-Lowry Syndrome MedlinePlus
      The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. ... Most affected males and some affected females have distinctive facial features including a prominent forehead, widely spaced and downward-slanting eyes, a short nose with a wide tip, and a wide mouth with full lips. These features become more pronounced with age. Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome. Additional features of this condition include short stature, an unusually small head (microcephaly ), progressive abnormal curvature of the spine (kyphoscoliosis ), and other skeletal abnormalities. ... Gene mutations result in the production of little or no RPS6KA3 protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene.
  • Ataxia–telangiectasia Wikipedia
    Current consensus is that special screening tests are not helpful, but all women should have routine cancer surveillance. Skin [ edit ] A–T can cause features of early aging such as premature graying of the hair. ... Vision (ability to see objects in focus) is normal. [25] Control of eye movement is often impaired, affecting visual functions that require fast, accurate eye movements from point to point (e.g. reading). ... A variety of laboratory abnormalities occur in most people with A–T, allowing for a tentative diagnosis to be made in the presence of typical clinical features. Not all abnormalities are seen in all patients. ... There are other rare disorders that can be confused with A–T, either because of similar clinical features, a similarity of some laboratory features, or both. ... Differentiation of these disorders is often possible with clinical features and selected laboratory tests.
    ATM, C11orf65
    • Ataxia-Telangiectasia Variant Orphanet
      Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
  • Leri-Weill Dyschondrosteosis OMIM
    See also Langer mesomelic dysplasia (LMD; 249700), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes. Clinical Features The disorder was first described by Leri and Weill (1929). ... Diagnosis Ogata et al. (2001) reviewed the clinical features and diagnostic and therapeutic implications of SHOX haploinsufficiency and overdosage. They suggested that identification of Madelung deformity is important in the clinical diagnosis of SHOX haploinsufficiency and that gonadal suppression therapy may mitigate the clinical features, including mesomelic short stature. ... Gatta et al. (2007) pointed out that the MLPA analysis can be carried out on a buccal swab, and that this technique represents a fast, simple, and high throughput approach in the screening of SHOX deletions. ... The proposita had short forearms with a short, bowed radius, cubitus valgus with limited motion at the elbows, fusion of C1 and C2 vertebrae, and other skeletal anomalies. Many of the features suggested dyschondrosteosis. Whatever the precise diagnosis, the findings implicated one of the breakpoints as causative (Hecht and Hecht, 1984).
    SHOX, SHOX2, F2R, NR1I2, SLC52A2, PWAR1, FGFR3, SRY, NPR2, FOXD3
    • Léri-Weill Dyschondrosteosis Orphanet
      Expression is variable but the clinical features are generally more severe in females.
    • Leri Weill Dyschondrosteosis GARD
      The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called tibia, elbow abnormalities, scoliosis, and high-arched palate.
    • Léri–weill Dyschondrosteosis Wikipedia
      Léri–Weill dyschondrosteosis Other names LWD Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner Specialty Medical genetics Léri–Weill dyschondrosteosis or LWD is a rare pseudo autosomal dominant genetic disorder which results in dwarfism with short forearms and legs ( mesomelic dwarfism ) and a bayonet-like deformity of the forearms ( Madelung's deformity ). [1] Contents 1 Causes 2 Diagnosis 3 Treatment 4 History 5 References 6 External links Causes [ edit ] It is caused by mutations in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes , at band Xp22.33 or Yp11.32. [2] SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome. [3] Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula . [ citation needed ] Diagnosis [ edit ] Diagnosis is made following genetic blood testing. Treatment [ edit ] This section is empty. You can help by adding to it . ( July 2017 ) History [ edit ] LWD was first described in 1929 by André Léri and Jean A. Weill . [4] [5] References [ edit ] ^ Benito-Sanz S, Thomas NS, Huber C, et al. (October 2005). "A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri–Weill Dyschondrosteosis" . Am. J. Hum. Genet . 77 (4): 533–44. doi : 10.1086/449313 . PMC 1275603 .
  • Epidermolysis Bullosa Wikipedia
    Rather, it is speculated that cross-correction from tissue-resident graft-derived immune cells contributes to the observed clinical benefit. [19] A pilot study performed in 2015 suggests that systemic granulocyte-colony stimulating factor (G-CSF) may promote increased wound healing in people with dystrophic epidermolysis bullosa. [20] Transplanting skin derived from genetically modified stem cells onto the wound surfaces has been studied with a report of improvements in one person. [21] Monitoring [ edit ] The Epidermolysis Bullosa Disease Activity and Scarring index (EBDASI) is a scoring system that objectively quantifies the severity of epidermolysis bullosa. ... "Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features". British Journal of Dermatology . 130 (5): 617–625. doi : 10.1111/j.1365-2133.1994.tb13109.x . ... PMID 29144448 . ^ Development, reliability, and validity of a novel Epidermolysis Bullosa Disease Activity and Scarring index (EBDASI). 2014. Loh CH, Kim J, Su JC, Daniel BS, Venugopal SS, Rhodes LM, Intong LR, Law MG, Murrell DF.
    ITGB4, KRT14, KRT5, EXPH5, COL7A1, COL17A1, PLEC, LAMC2, LAMB3, DST, ITGA6, ITGA3, ACTB, LAMA3, CCL21, SDC2, TMSB4X, CXCL12, TGM3, TP53, BEST1, PLOD3, TGM5, CD160, B3GAT1, SLCO1B3, KLHL24, FERMT1, RPS27A, LAD1, MMP1, FLII, CEACAM5, DMD, DSC2, DSC3, DSP, EBM, GPT, LDLR, HMGB1, HSPG2, IL1A, IL1B, IL6, KRT18, ERBIN
    • Epidermolysis Bullosa Mayo Clinic
      Overview Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) is a rare condition that causes fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach. Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults.
    • Epidermolysis Bullosa GARD
      Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.[2310] There are four main types of EB, which are classified based on the depth, or level, of blister formation: Epidermolysis bullosa simplex Dystrophic epidermolysis bullosa Junctional epidermolysis bullosa Kindler Syndrome EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing. Identifying the exact sub-type can be hard because there are many sub-types of EB.
  • Psoriasis Wikipedia
    Mild psoriasis has been defined as a percentage of body surface area (BSA)≤10, a psoriasis area severity index (PASI) score ≤10, and a Dermatology Life Quality Index (DLQI) score ≤10. [64] Moderate to severe psoriasis was defined by the same group as BSA >10 or PASI score >10 and a DLQI score >10. [64] The DLQI is a 10-question tool used to measure the impact of several dermatologic diseases on daily functioning. ... It assesses the severity of lesions and the area affected and combines these two factors into a single score from 0 (no disease) to 72 (maximal disease). [66] Nevertheless, the PASI can be too unwieldy to use outside of research settings, which has led to attempts to simplify the index for clinical use. [67] Management [ edit ] Schematic of psoriasis treatment ladder While no cure is available for psoriasis, [46] many treatment options exist.
    CARD14, STAT3, VEGFA, ERAP1, TYK2, IL12B, IL23R, TRAF3IP2, TNFAIP3, TNIP1, IL13, RNF114, NOS2, IFIH1, GJB2, DDX58, FBXL19, CSMD1, SERPINB8, HLA-C, LCE3B, LCE3C, IL23A, TNF, IL1B, IL4, IL6, TP53, CRP, S100A7, IL36RN, TGFA, APOE, REL, CSF2, PPARG, ZNF816, CAT, IFNLR1, PCNA, NFKBIA, PTTG1, RUNX3, MKI67, REN, VNN3, LCE3D, VNN1, SOD2, HCAR2, TAGAP, VNN2, CYP2S1, CARM1, AP1S3, ZC3H12C, CP, ITGB2, TTC7A, IL19, SPTLC2, HLA-B, IL10, ARPC4, CCHCR1, PDE4A, PTPN22, NFKB1, NOD2, TLR4, RUNX1, TNFSF15, IL2RA, COG6, IL27, HCP5, ITGAL, CDKAL1, GATD3A, AHR, NOTCH1, TNFRSF1A, CD40, NFATC1, FUT2, ERAP2, AIM2, ZMIZ1, CD226, SPATA2, ANKRD55, SMAD3, CD6, JAZF1, IL1R1, STAT2, FNDC3A, BTD, BANK1, ZGLP1, PRKRA, PTPN2, TNFRSF6B, ZNF365, GLYAT, F9, KLRC1, FNBP1, SBNO2, SYNE2, PLCL2, FLG, ESR2, RAD50, PSORS4, ERN1, PKIG, ADGRL2, MYT1L, CLEC16A, PARK7, SLC9A8, ATXN2L, CRB1, UBBP4, SP140, DNAJB4, FGFR1OP, POLI, USP49, IL17RA, BPTF, ETS1, ELOA, SH2B3, PTPRN2, SUOX, STK11, SON, SLIT3, ATXN2, RPS26, RPS6KB1, REV3L, REG1A, IFNG, IFNGR2, RDX, IL1A, HLA-DRB1, IL6R, MAPK1, CXCL8, PRKCQ, PRKCB, PLAU, IL15, IL17A, IL18, NPPA, MST1, MGMT, ICAM5, HLA-DQA1, ELMO1, ATG5, NR5A2, KEAP1, SCRN1, ZFYVE16, SETD1A, PRORP, GART, IKBKE, GBAP1, RGS6, NPEPPS, GCKR, GNA12, HLA-A, OSMR, FIBP, SKAP2, GPR35, BSN, ACAD8, ASAP2, KSR1, IL18R1, TNFRSF14, VDR, UBE2L3, GPR183, GPR160, DENND1B, LRRC43, SLC39A11, TMEM258, MYRF, TRIM65, HIPK1, ITPRID1, BLOC1S2, CAMK2G, FAM177A1, CAVIN1, LURAP1L, PUDPP2, PRDM1, UBAC2, IL37, CAMP, FLG-AS1, ZNF831, ANTXR2, NXPE1, LRRK2, NRAD1, ZPBP2, RAVER1, RBM45, RNF145, LINC01620, CASR, PUS10, CMC1, LINC02085, CAST, C17orf67, IRGM, STX1B, ADCY7, TH2LCRR, LINC00824, LINC01147, LINC00993, LINC02863, CCR5AS, ADCY3, CHROMR, LINC01714, LINC02571, ACTA2, LINC01932, ACO1, H3P13, LINC01250, IFNG-AS1, LINC02213, TRAF3IP2-AS1, C1orf141, LINC01185, TEX41, MIR146A, IRF1-AS1, KPRP, LINC00598, RTEL1-TNFRSF6B, INS-IGF2, C1orf68, SPATA48, ELOA-AS1, ALDH2, ZNF816-ZNF321P, RMI2, KRT17, IL17F, UBASH3A, ELOVL6, CHST8, DAP, CARD9, DAG1, FOXP3, IGF2-AS, TLR7, HDAC7, KLF13, GAL3ST2, THADA, CPEB4, BACH2, IL21, CREM, GIPC2, RASIP1, FAM118A, PPP2R3C, ATG16L1, RIC8B, INAVA, EXOC2, CS, CLCN6, IL22, DELEC1, MFSD4B, IL17B, ANKRD30A, AP5B1, DNMT3A, KCNH7, UQCR10, NKD1, MYPN, CFL1, DONSON, PAK5, IL20, KIAA1109, QTRT1, CDKN2A, TSPAN14, CDKN2D, CDSN, NDFIP1, ACE, PIK3CG, MTHFR, IL9, PIK3CD, IL17C, LEP, EGF, EIF2AK1, CCL2, CCRL2, S100A9, TGFB1, PIK3CA, IL2, PIK3CB, CCR6, DEFB4A, HT, TLR2, ADIPOQ, TRBV20OR9-2, TP63, CCL27, PRL, IL1RL2, MIR21, MIR31, JAK1, TEK, AREG, PI3, DEFB4B, TAP1, EGFR, MICA, PSORS1C1, IFNA13, ADAM33, TSLP, IFNA1, IL33, S100B, IL1RN, S100A8, CCL20, IGF1, NLRP3, IL24, SIRT1, RPSA, SLCO6A1, LCN2, NGF, IL1F10, H3P28, EBNA1BP2, RABEPK, TAC1, ARHGEF2, GSTK1, ARMH1, RETN, MIR155, MIR203A, PSMD7, MAPK3, CCL17, SLC2A1, TLR9, PSORS6, STAT4, PON1, PSORS9, LANCL1, H3P10, GOT2, CHI3L1, AKT1, EDN1, GSTM1, CXCL10, MAPK14, TIMP3, NXF1, PLAAT4, CSTA, HMOX1, FLNB, HLA-DPB1, TNFRSF1B, POLDIP2, AHSA1, ADAM17, HMGB1, S100A1, MTX1, MAPK8, SOAT1, FCGR3A, SLC22A4, MYDGF, FGF7, SELE, CRK, CCL22, CCL5, CCND1, S100A7A, ADAMTSL5, SERPINB3, CD79A, GRAP2, ACR, CXCL1, GRN, KIR2DS1, USO1, KRT16, NFKBIZ, CCR5, GSTT1, MIR223, MIR99A, LOC102724971, PPARD, JUN, AIMP2, KYNU, RNF19A, PSORS5, WNT5A, SEC14L2, LOC102723407, DEFB103A, DEFB104B, ANXA6, SERPINA1, CXCR2, IFI27, IFN1@, CSF3, DEFB103B, APOB, POU5F1, RARRES2, CCL4L1, APOA1, TREX2, KLK7, HP, IL36G, CD1D, ZNF750, SOCS3, SLC9A3R1, GATA3, RIPK1, MBTPS1, GSTM2, CDR3, ACKR2, FOSL1, FZD5, TRPV1, FN1, HIF1A, SLURP1, CD1A, DEFB104A, TGM1, CASP1, CALCA, TAP2, PSORS1C2, CA2, HES1, CRH, C4B, C4A, HSP90AA1, PECAM1, CAV1, DUSP1, LTA, JUNB, TLR8, LGALS3, IL17D, LOXL2, OPRM1, CCR2, HPGDS, KDR, MMP2, AGER, IVL, GATD3B, PSORS1C3, CXCL9, MIF, ITGAX, LORICRIN, KIR3DL1, ITGAE, ISG20, NFE2L2, NF1, PIPOX, FLT4, SLC22A5, HLA-DOA, ACE2, HRH4, NLN, OR2AG1, CLDN3, SEMA3A, CPQ, S100A14, TIMP1, HAX1, TGM3, TGM2, HBEGF, MMP9, PDPN, TFPI, SYT1, HNRNPA1, ITGAM, MUC1, RPTOR, ALB, C5AR1, ABCC1, MRC1, STAT1, TRIM21, TSC22D3, SPP1, SOX9, MIB1, GNLY, FOXO1, AGT, DUT, TNFRSF4, ISYNA1, JAK2, CD14, GABPA, JUND, TNFSF10, GCG, SLC12A8, GORASP1, DEFB1, IL25, CCL4L2, ACD, GEM, CYP24A1, NR1I2, WNK1, ABCG2, KRT14, BCL10, CYP27A1, TGM5, IL32, CYP27B1, MYOM2, CCR10, CCR4, PCLAF, CD69, NR1H3, UBE2N, UVRAG, CD27, SHBG, FOS, VIP, CD274, MC1R, IL22RA2, TNFSF8, FOSB, LPA, CD34, MBL2, AKT3, CMKLR1, DPP4, OPN4, CCR7, ACTB, CD40LG, ROBO3, SLC6A4, S100A4, COPD, IFI16, ETFA, TRIM32, TNFRSF11B, KLK6, DKK1, CTNNB1, F2RL1, SLC52A1, PTEN, MIR126, CTLA4, FABP4, CCN1, OLR1, ANGPT2, RBP1, WDHD1, IL26, NT5E, RELA, ANGPT1, FCGR2A, RPE65, IL4R, IL7, ESR1, SLCO1C1, PDE3A, PDCD1, MIR424, CYP1A1, ABCB1, ELANE, REG3A, CX3CR1, IL12RB2, CTSS, PLAT, CXCR1, MIR17HG, QPCT, PLG, POMC, KLK5, EPAS1, IL20RB, MIR210, ORM1, CTSG, NOTCH4, OAS2, LCE3A, BDNF, SELP, SAA1, FGF2, SAA2, CX3CL1, CKAP4, FCGR3B, S1PR1, SELPLG, CXCL11, SERPINB4, HTR2A, IRF5, CCL4, C4B_2, MALT1, NAT9, CCL19, IRF2, NOTCH2, NOS3, BSG, BTNL2, BCL2, IFNL1, IRF1, CTSL, MUL1, CRHR2, CLEC7A, TREM1, MAVS, NAA16, NBAS, DUOX1, SLC12A9, DGCR8, CCR1, AKR1B10, CKLF, FYCO1, MED15, CLU, CYBB, RIPK4, IL17RD, PSORS7, TET2, KIR2DL5A, LYNX1, MARCKSL1, PGLYRP4, PIAS4, CYLD, CLC, CTSV, CRHR1, TNFRSF12A, IL20RA, CYP2E1, CYP3A4, CYP2D6, COX8A, CST6, TRMO, CYP2B6, PROK2, SUGP1, SCLY, ACOT13, CRABP1, IL22RA1, TNFAIP8L2, JAM2, ZC4H2, SULF2, CXCL16, WDR11, TRIB3, SPHK2, ITLN1, CTSB, AZI2, CD244, CYP2C19, GRHL3, CALML5, POMP, SUCO, MOCOS, CNR1, ATOD1, COMT, SEMA6A, NCOA5, CCN2, PRO2268, MSX2P1, NANS, KIR3DL2, CHRNA4, MIR193B, APP, MIR17, MIR187, MIR197, MIR19A, MIR20A, MIR221, BIRC2, TNFSF12-TNFSF13, SLURP2, MXRA7, MIR330, MIR340, MIR369, ANXA2, PLF, WG, PRR9, MIR146B, APRT, MIR145, MIR143, C10orf99, ATP5F1A, ASIP, TICAM2, STS, ARG1, IL31, SUMO4, NPSR1, RTL1, MIR130A, AQP3, AQP1, FASLG, FAS, MIRLET7B, MIR122, MIR125A, MIR125B1, MIR492, MIR486-1, CLMN, POU5F1P3, MIR4516, AHCY, AGTR1, JAG1, ADRA1B, PARP1, MIR6731, ADH1B, ADCYAP1, ADA, LINC02210-CRHR1, UPK3B, LOC110806262, LYNX1-SLURP2, LINC02605, H3P9, ACACA, H3P23, AOC1, COMMD3-BMI1, ALOX12, PWAR6, MIR744, ANXA1, POU5F1P4, SLC25A5, NME1-NME2, HNRNPA1P10, ANPEP, POTEF, MIR876, C20orf181, ALOX15, AMH, CD24, KLLN, PRINS, ALOX15B, MIR320B1, TMED7-TICAM2, AAA1, HCP5B, LINC01193, BCL3, LINC02693, IL17RC, CDC6, CD68, CD59, CD47, ENTPD1, DMKN, MUC16, CD38, SCARB1, CDCA5, PIK3IP1, TXNRD3, PGLYRP3, TNFRSF13C, TNFRSF8, CD86, CD28, CD19, CDH13, RNASE7, SPINK7, CEBPD, VASH2, EHMT1, WLS, GRHL2, NAA25, ZC3H12A, SCUBE1, CETN1, SLC38A1, CDK2, CDKN2B, SHARPIN, CDKN1A, TLCD3B, ANGPTL6, STK40, CDK5, CDK4, CD1C, OSCP1, CD1B, BMX, KIAA1324L, VAMAS6, C3, IPMK, CADM2, BST2, PCSK9, TAB3, BMP6, CACNA1A, CXCL17, SLC9C2, TCAIM, HCG22, BMP4, BMI1, CFB, TNFRSF17, VPS51, OLIG3, CCNB1, YDJC, CCKBR, PSORS8, CCKAR, CCK, TEPSIN, B3GNTL1, GLIS1, SDF4, CASP5, SLC25A20, PLB1, CASP3, FGD5, CAPN1, AMOT, CBLL2, SPRED1, C16orf82, HSPA14, NES, TMED7, SEA, RPA1, RYR1, S100A2, ID4, ID1, ICAM1, S100A12, IARS1, TSPAN31, MSMO1, HTR3A, SCN7A, CCL3, CCL7, HTR1A, HTC2, CCL21, CXCL5, SDC1, TRIM27, RENBP, IFNAR1, PTPN11, PSMB9, IL1RAP, PSMD9, PTH, PTGS1, PTPN1, IGH, PTPN6, PTPRC, IFNB1, PTX3, PZP, MOK, RARA, RARRES1, RBP4, IGF2, IGF1R, CXCL12, SETMAR, SOST, SFRP4, TCF3, TCF7L2, TCF19, TRGV5, HLA-G, HLA-E, THBS1, TIMP4, HLA-DRB5, TLE1, TLR1, HLA-DQB1, HLA-DQA2, HLA-DMB, TNNT1, TNXB, HLA-DMA, TPM1, TPM2, NAT2, TBCC, TAZ, SOD3, SFTPD, ST6GAL1, HSPD1, SLC22A1, SLPI, SNAI1, SNRNP70, HSPB2, HSPB1, TAT, SRF, HSPA1B, HSPA1A, STAT6, AURKA, HOXA5, TAL1, FOXA1, PSMB8, PSAP, IL3, MAPK9, MMP10, MMP12, MMP19, MNAT1, CD200, COX2, MYD88, NAGLU, NAP1L1, NCAM1, NEDD8, NFATC2, NFATC4, NFKBIL1, IRF3, NHS, NM, NME1, NME2, MMP8, MME, MGST2, LRP6, KLK1, KLRC2, KRT7, KRT10, LAG3, LAMP1, LGALS1, LNPEP, LRP5, MGAT5, LYN, LYZ, SMAD2, SMAD7, MCAM, SMCP, MDM2, MFAP1, IRAK1, NRTN, NTRK1, PLCD1, IL16, IL15RA, IL13RA2, IL13RA1, PKD1, PLA2G1B, PLA2G2A, IL12RB1, POLR2G, PHB, IL12A, PPARA, IL9R, PPBP, PPP3R1, PPP6C, PRELP, PRKCZ, TNFRSF9, PGR, NTS, SERPINB2, NTSR1, NR4A2, OPRK1, OSM, OXA1L, P2RX7, FURIN, SERPINE1, CNTN3, PGF, PRKN, INSRR, PDC, PDE4B, PDE4D, PDE7A, SERPINF1, PF4, TPO, TRAF6, TRPC6, DDX39A, LYVE1, SUB1, RAB40B, COPS5, SPINK5, KLK11, LILRA3, EFEMP1, SLC7A9, PWP1, FANCE, FABP7, KLK8, FABP1, TREX1, F13A1, COPE, IKZF3, NLRP1, FCN2, HPSE, NCKAP1, TACC2, SPRY2, TRAIP, FLT1, TLR6, FOXO3, SEMA4D, ZNRD2, MRPL28, SLCO1B1, KIR3DS1, POSTN, KHDRBS3, FOXC1, DCTN6, TNFSF13B, B3GNT2, PTTG2, MASP2, F3, EZH2, CD93, NXT1, EHF, SLC17A5, EDA, ECM1, IL36B, ATN1, R3HCC1L, TRAJ23, TBK1, OPTC, DNASE1, DLAT, DHFR, CRNN, AKR1C1, IL21R, DBH, TAS2R13, FGF21, TES, STAB1, TNFRSF13B, EPHB2, ENG, EMP1, DMXL2, SATB2, ELN, SERPINB1, BRD4, SMUG1, PCDHGA12, EIF4E, PLXNB2, EGR1, SH3BP4, TFIP11, PRDX5, LPAR1, PNISR, FLT3, LHFPL6, TXK, PDZK1IP1, NR0B2, GALR3, HAT1, LMO4, GSTP1, TNFSF11, AOC3, AKR1C3, SOCS1, TNFSF12, GSK3B, TNFRSF11A, TNFRSF10B, CXCL2, NRP1, CD84, GGH, GRIN1, CDK5R1, PLA2G10, FZD8, NRIP1, WT1, TYR, CFH, UGT8, VCAM1, GZMB, GZMA, WNT7B, WNT10B, XBP1, FGF23, YWHAZ, ZFP36, ZNF148, CXCR4, PSORS3, DDX39B, PLA2G7, NR4A3, APLN, GPX4, GPX1, MTOR, RNF7, AATK, ISG15, GAPDH, IFI6, BMS1, FZD2, ACKR1, FPR2, NAPSA, FAM20B, FGF19, FOSL2, ACOT8, TANK, EDIL3, BCAP31, EBI3, GCHFR, GH1, SPHK1, USP2, FFAR2, MCHR1, BAIAP3, BTRC, HSPB3, PGLYRP1, GPR15, GPRC5A, SYNGR1, CBLIF, CXCR3, LRRFIP1, GLP1R, RPS6KA5, MAPKAPK2, CD163, PPIG, GJA1, NAT1
    • Psoriasis Mayo Clinic
      Overview Psoriasis is a skin disease that causes a rash with itchy, scaly patches, most commonly on the knees, elbows, trunk and scalp. Psoriasis is a common, long-term (chronic) disease with no cure. It can be painful, interfere with sleep and make it hard to concentrate. The condition tends to go through cycles, flaring for a few weeks or months, then subsiding for a while. Common triggers in people with a genetic predisposition to psoriasis include infections, cuts or burns, and certain medications. Treatments are available to help you manage symptoms. And you can try lifestyle habits and coping strategies to help you live better with psoriasis.
  • Cardiovascular Disease Wikipedia
    They include family history, coronary artery calcification score, high sensitivity C-reactive protein (hs-CRP), ankle–brachial pressure index , lipoprotein subclasses and particle concentration, lipoprotein(a), apolipoproteins A-I and B, fibrinogen , white blood cell count, homocysteine , N-terminal pro B-type natriuretic peptide (NT-proBNP), and markers of kidney function. [56] [57] High blood phosphorus is also linked to an increased risk. [58] Depression and traumatic stress There is evidence that mental health problems, in particular depression and traumatic stress, is linked to cardiovascular diseases. ... Obesity and diabetes mellitus are often linked to cardiovascular disease, [70] as are a history of chronic kidney disease and hypercholesterolaemia . [71] In fact, cardiovascular disease is the most life-threatening of the diabetic complications and diabetics are two- to four-fold more likely to die of cardiovascular-related causes than nondiabetics. [72] [73] [74] Screening Screening ECGs (either at rest or with exercise) are not recommended in those without symptoms who are at low risk. [75] This includes those who are young without risk factors. [76] In those at higher risk the evidence for screening with ECGs is inconclusive. [77] Additionally echocardiography , myocardial perfusion imaging , and cardiac stress testing is not recommended in those at low risk who do not have symptoms. [78] Some biomarkers may add to conventional cardiovascular risk factors in predicting the risk of future cardiovascular disease; however, the value of some biomarkers is questionable. [79] [80] Ankle-brachial index (ABI), high-sensitivity C-reactive protein (hsCRP), and coronary artery calcium , are also of unclear benefit in those without symptoms as of 2018. [81] The NIH recommends lipid testing in children beginning at the age of 2 if there is a family history of heart disease or lipid problems. [82] It is hoped that early testing will improve lifestyle factors in those at risk such as diet and exercise. [83] Screening and selection for primary prevention interventions has traditionally been done through absolute risk using a variety of scores (ex. ... A 2015 Cochrane Review found some evidence that interventions aiming to reduce more than one cardiovascular risk factor may have beneficial effects on blood pressure, body mass index and waist circumference; however, evidence was limited and the authors were unable to draw firm conclusions on the effects on cardiovascular events and mortality. [111] For adults without a known diagnosis of hypertension, diabetes, hyperlipidemia, or cardiovascular disease, routine counseling to advise them to improve their diet and increase their physical activity has not been found to significantly alter behavior, and thus is not recommended. [112] Another Cochrane review suggested that simply providing people with a cardiovascular disease risk score may reduce cardiovascular disease risk factors by a small amount compared to usual care. [113] However, there was some uncertainty as to whether providing these scores had any effect on cardiovascular disease events.
    NOS3, LPA, APOB, APOE, ADRB1, ICAM1, ALB, LPL, GH1, APOC3, MPO, MTHFR, NPPB, VWF, EDN1, VCAM1, PON1, ACE, CETP, PTGS2, CST3, CCL2, AGT, CRP, HP, CYP2C19, NPY, SELE, CBS, SORT1, PON2, GPX1, GRK2, GRK5, SLC12A2, TNNT2, AGER, HMGCR, CHDH, LDLR, FTO, PCSK9, VDR, ABCG8, FBN2, LIPC, SH2B3, CASZ1, CYP11B2, DNMT1, TNC, DBH, INSR, PRKAG2, ADH1B, MEPE, BACE1, SCAF1, GCKR, MYBPC3, FUT2, CDKAL1, WRN, NPC1, PLPP3, RORA, MRAS, NPR1, SLC7A1, MCF2L, GUCY1A1, COL4A1, SEPTIN9, TNFRSF11B, OPRL1, PLG, TANGO2, EBF1, GOLGA6A, PLA2G2A, PKHD1, AAGAB, IL1B, PIK3CG, ZNF831, SERPINE1, UPF3A, CELSR2, EPHX2, COPD, HNF1A-AS1, PAX2, NDUFAF6, ENPEP, OR10A4, EFCAB13, PRDM16, DPYSL2, HOXB-AS3, BAHCC1, LINC01122, PREX1, CYBA, LINC02245, RBP4, CASC15, REG1A, PTX3, REN, PLEKHG1, REXO1, LIN54, JPH2, RGL3, SAA1, LINC01344, IGF1, DPP4, DECR1, DPEP1, PPARA, PPARG, EBF2, DLG2, HS1BP3, PRKCE, TMBIM1, PTH, CCDC148, OLR1, DBP, THADA, ACE2, CPEB2, ABHD17C, THAP9, LCORL, ESR1, TIMD4, CADPS2, FGD5, PRDM6, GML, HMOX1, GLP1R, LINC01312, FREM1, ZFAND2A, CDCA5, IL6, LSP1, NAV1, DOCK7, UBASH3B, HOXB3, MBL2, ADO, LGALS3, LEP, HOXC4, APOA5, IL18, ARHGAP42, OR10AD1, HIVEP2, INPP5A, HGFAC, IL10, AGAP1, C1QTNF4, LCN2, PHF13, APCDD1L-DT, NLRP3, GTF2I, KNG1, KPNA4, SLC9B1, NR3C1, HOXB5, GCG, ESR2, HPR, FES, NFATC2, NFE2L2, CCDC170, BICC1, NMT1, DBH-AS1, SVEP1, FABP4, FGB, TTC41P, NPNT, F3, RNF214, F2, MECOM, EHMT1, ALG9, MYO9B, MXI1, KDM2B, ANO5, NAA38, NR3C2, MMP2, GABPA, TCHP, UNC13D, MMP9, DCUN1D5, ZCCHC7, TMEM72-AS1, NKAIN4, PDILT, NCALD, MXD3, CABCOCO1, APOLD1, DLEU7, CMIP, NFKBIA, ZDHHC18, ATXN2, SELENBP1, PKD2L1, PDYN-AS1, ATP2B1, RERE, S1PR2, SLC9A3R2, KL, ADIPOQ, DNAJC27-AS1, DDX23, MYEOV, FGF21, GDF15, ZGLP1, GOSR2, USP34, KANK2, PNKD, APOA1, AVP, ZPR1, CACNA1D, MACROD1, VPS51, PLCE1, HSD17B12, AXIN1, MAD1L1, ATL1, APOL1, RUVBL1, UNC5C, DELEC1, UBN1, BDNF, UHRF1, ALDH1A2, LINC00452, HNRNPFP1, HRCT1, APLN, HIPK2, GIT2, C22orf31, HOTTIP, CERT1, CCND2-AS1, CRTC1, ZNF268, PDE10A, ADM, ADK, PLCB1, UTS2, ADCY9, SWAP70, CLUAP1, SORCS3, NT5C2, HSF2BP, LINC02646, ABO, HIBADH, IL1RAPL1, ABCA1, SORBS1, AGTR1, ATG7, C5orf67, ANGPT2, LHFPL2, TSPOAP1-AS1, GLYAT, TARID, DLEU1, LINC02227, LINC01478, LIPC-AS1, AHSG, ALOX5, CFDP1, ZFPM2, C1QTNF7-AS1, ALDH2, LINC01169, LINC02576, SIRT1, FGF23, RPS6, CACNB2, CHI3L1, CD36, TNF, TLR4, CCHCR1, TGFB1, ARL15, TERF2, PLA2G7, PAQR5, PGPEP1, RNF43, TXNL4B, BANK1, MIR21, ZC3HC1, ARMC4, RCBTB1, SPP1, CLCN6, SOS2, TBC1D19, ABCF3, SOX6, SLC5A2, SHBG, SELP, RETN, C1GALT1, CD14, BCAS3, CCND2, SPTBN5, WNT2B, YES1, IRF1-AS1, PALM2AKAP2, WT1-AS, LIMA1, VEGFA, CAD, ANGPTL3, ADAMTS13, MGP, PGR-AS1, IL1A, HGF, ELN, APLNR, DSPP, COX2, FLNA, SMUG1, BMS1, IL6R, TCF7L2, ACACA, BGLAP, IL33, ADRB2, NOX4, PIK3CA, ACTB, CXCL12, SOST, MTCO2P12, SIRT3, CDKN2A, PIK3CB, NHS, TM6SF2, TNNI3, PIK3CD, CDKN2B-AS1, EDNRA, COMT, CX3CR1, RAPGEF5, ROS1, RARRES2, MOK, GPT, SIRT6, HSD11B1, PNPLA3, MIR155, S100A9, S100A12, ANPEP, AGTR2, ANGPTL4, LIPG, GIP, CD40LG, CTSS, F5, HFE, IMPACT, ATM, HIF1A, CXCL8, SCARB1, MIR146A, GNB3, CYP19A1, ADA, PDE5A, THBD, TXN, ANGPTL2, LOX, CHGA, PPIA, ATP6AP2, CP, PLA2G1B, SAA2, UCP2, UMOD, S100A8, SCN5A, SLC33A1, CXCR4, SLC6A4, MTTP, WASF1, UGT1A1, SELENOS, CXCR6, ABCG1, CLOCK, NOS1, MMP1, RMC1, PROS1, THBS1, MMP8, PTGS1, LEPR, NPPC, PTPN1, MMP12, TNFSF11, NTS, KDR, VKORC1, KCNQ1, PPIG, SOD1, PLA2G6, KLF2, STAT3, ANGPT1, ADRA2B, CIMT, FABP3, CD34, MIR126, G6PD, MIR210, AHR, CAV1, NQO1, FBN1, GSTK1, C20orf181, KIF6, CCR5, CFH, SLCO6A1, BTF3P11, MIR499A, CDKN2B, ELANE, ENG, EPO, KLK3, ARSA, HLA-DRB1, HSPD1, FSHMD1A, SOD3, SOD2, COL4A2, SSTR4, TM7SF2, MIR221, TH, MIR34A, MFAP1, FSD1L, FSD1, ACCS, USF1, CAT, CASP1, MAS1, CA2, PLA2G10, BRS3, BRCA2, MIR145, ACKR3, FOXO3, FABP2, PAPPA, SERPINF1, C1QTNF9, DHX40, PLAG1, AGXT2, P2RY12, PPARD, F7, NPR3, F11, MAPK1, NPPA, MAPK3, SHMT1, CYP7A1, CXCL16, NOS2, TRIB3, PTGIS, RAPSN, CTH, CRYGD, GJA1, CCL5, APOM, SELENOP, ACSS2, BRCA1, TYRP1, PSAT1, GPR42, TMEM54, LPAR2, PARP1, POLDIP2, ADRA1A, APRT, NPEPPS, LBP, IRS1, TBPL1, WASF2, PADI4, IL17A, ALOX5AP, KCNH2, CACUL1, ABCC6, PPARGC1A, PLA2G15, HPGDS, F2RL3, TNFRSF11A, DNER, ITGB3, HSPB2, NR1I2, HSPB1, CAPN10, ABCB6, HSPB3, GPER1, B2M, CYP2J2, RFC1, ROCK1, PART1, NAMPT, RENBP, CYBB, MIR122, CTSK, GDF11, AMPD1, TRIB1, SLC35A1, MALAT1, DDAH2, PDE4A, FSTL1, PGF, ABCB1, MMRN1, CST12P, ADD1, PLAT, DUSP1, PLTP, ADH1C, POMC, ADRB3, AHSA1, PRKAA1, CBSL, PEAR1, ABCG5, AKR1B1, NOD1, BRD4, S100A1, CPB2, MAPK14, TP53, MIR22, NOX1, TFPI, CCR2, MIR33A, IL32, IL1RL1, TLR2, TNFRSF1A, TNFRSF1B, IL23A, MIR208A, VCL, CALR, MGAM, CALCR, SLC25A20, AIMP2, GP6, C4B, TSPO, KLF15, GRAP2, FADS2, RNF19A, SI, MIR132, CRK, CRH, KEAP1, PDGFC, APOA4, TNFSF10, COX8A, MIR143, HTR2A, SLC2A1, ST2, SLC2A2, SLC2A4, GAL3ST1, ROCK2, CNR1, SLC17A5, HAVCR1, CLU, NTN1, ARG1, SERPINA5, ANGPTL8, FABP1, INSRR, MSRA, GSTT1, CD180, FN1, EPRS1, FOXO1, FLAD1, BPIFB4, ADM2, PHACTR1, GLUL, FCGR3A, IGFBP3, HSPA5, ADIPOR2, IGFBP1, MMP7, LTA, SPX, IL4, FGG, MUSK, MME, HSPA1A, LCAT, FCGR3B, GOT2, MTR, HABP2, MEG3, WDR1, CNR2, NR1H4, DIANPH, SOAT1, GPR35, MRGPRX3, CUBN, LYPD4, APOA2, TRIM21, MTOR, APOC1, APOC2, LTC4S, ABCC9, SLC22A3, C3, CYP4F3, SLC2A9, HLA-B, INS, ANK2, CXCL5, DDAH1, ANXA1, SELPLG, NRG1, TUBB1, SFRP5, SFTPD, FZD4, COX1, FLNC, FLT1, SLC6A2, CHRNA5, CISD1, SLC6A8, MIR150, MRGPRX4, FMO3, HLP, MIR208B, APP, GHS, IL37, CD47, XPR1, CD44, MAP3K5, GDF2, CD38, GSTM1, CRISP2, TRAF1, HSP90B2P, RHOA, TTR, RNU1-1, MEFV, MEF2A, PDE3A, MDM2, SIRT7, GCH1, VASP, CD5L, ANKRD1, TNFSF12-TNFSF13, VN1R17P, GPR166P, ASIC3, BEST1, MET, CD69, MAOA, HDL3, MIR214, JAK3, TAC1, IL15, MIR222, MIR223, MIR28, TAT, PCSK7, HNF1A, MIR29A, OXER1, GPBAR1, TET2, GAS6, PTPN22, KMT2A, BAG3, CALCA, CDH13, GPX3, PXDN, KCNJ5, GATA4, HOPX, TREM1, HFM, CR1, LTA4H, IL11, IGF2BP2, HSPA4, PON3, IGF2, MRGPRX1, IRS2, PPBP, C1QL1, ETV3, PTPA, MLC1, PRKAA2, PRKAB1, NPR2, PRKCD, MIA3, BID, NOD2, NOTCH3, AOC3, DAPK3, LGR6, PROC, NEDD4L, CYP11B1, PSEN1, NOTCH1, FBLN1, ARSI, PER2, ADAM10, WNK1, LOC110806262, ENPP1, HTR2C, PDZK1, PECAM1, PAH, PF4, P2RX7, RIPK2, SERPINA1, EGR1, ACLY, PITX2, OGN, TNFSF12, RAPGEF4, PLA2G4A, EPOR, PLAU, DKK1, MYOCD, PINK1, IFNG, PLN, ERG, KCNIP3, HAMP, ARMS2, TRPV1, S100B, KLF14, KLF5, RLN2, CCN2, CTF1, MBL3P, DEGS1, POSTN, ALOX12, UCMA, NBN, FBLN5, CRYZ, BSG, IL6ST, MIRLET7G, MIR106A, RPS6KA1, RAPGEF3, PNPLA2, AKR1A1, FADS1, FGA, RGS2, GIPR, IL1RN, LPAR3, PTGIR, GRK3, HMGB1, GPR151, CYP3A4, GPRC6A, CYP2D6, LRP5, ZC3H12A, OGT, CYP2C9, SCD, CYP1B1, CYP1A2, SAT1, FGFR4, NGF, AKT1, ZNF385B, SETD2, NAAA, AGO2, MYLIP, BRD7, PPM1K, SLC27A6, MIR486-1, BTLA, PDCD4, PDLIM3, GGTLC5P, GGT2, SFTPA1, GGTLC3, NCF1, MAT2B, TOR2A, MIR652, CYTOR, SERP1, COA3, UCA1, REM1, MIR642A, MUC16, POTEF, TMEM43, PLB1, TARDBP, CAMTA1, SZT2, PPARGC1B, TP53COR1, PROKR2, TPSD1, TRS-AGA2-3, SFTPA2, FUNDC1, ACTRT1, HIF1A-AS1, MIR499B, TSPAN15, ARL2BP, APOA1-AS, PHLPP1, RBM45, ARL6IP1, LPIN1, ERICD, CNOT1, RN7SL263P, SIRT1-AS, SIRT2, ATF6, LOC107987479, GNPDA2, LOC110599569, CARD8, ADGRL1, TDGF1P6, TTC7B, NRG4, DAPK2, ATRNL1, TUBA3D, AKR1B1P3, TXNRD3, COMMD7, TIRAP, GGTLC4P, CYGB, FBXO8, PSS, OSBPL11, C1QTNF3, TES, CILP2, C1QTNF6, LRIG1, LINC01672, OMA1, SLC22A12, BEAN1, POU2F3, TXN2, PRDX5, SAMM50, GCA, CERNA1, ZNF318, MTCH2, SENP1, BRD7P3, AAA1, MIR483, MIR98, NPS, SLC44A2, LPAL2, SMYD2, MIR130B, PPP1R2C, PDGFD, MIR125A, PDXP, TBX20, MIRLET7C, C1QTNF12, ASRGL1, ARFGEF3, JPH3, AS3MT, AHRR, ZBTB12, SEMA6A, LINC01194, MIR139, SPIRE1, SPHK2, MIR142, ENAH, KDM3A, MIR17, CENPJ, MIR148A, ARID5B, USE1, SESN2, GPRC5C, MIR144, STOX1, APOL6, TBATA, ZEB1-AS1, MYDGF, COL18A1, CLDND1, JCAD, CHD8, CHD7, BTBD8, TAS2R50, BCL11B, IS1, ACD, TNFAIP8L2, HCAR2, GPIHBP1, BPIFA4P, KCTD1, SERPINA13P, UBE2Z, PAGR1, NOX5, KCTD15, SLC22A24, MAPKAP1, MBOAT7, NEAT1, NIBAN2, GORASP1, ECHDC3, NANOS3, STN1, TNRC6C, SPTBN4, IL27, PRM3, FNDC5, TRPV4, HEATR6, SLC27A1, ENHO, FRMD3, FBRS, AGBL2, HHIP, TICAM2, HCP5B, HSD17B13, ATF7IP, PLXNA3, UBIAD1, ANGPT4, MIR378A, UCN2, CRIM1, KLF3, CD320, TLR8, TNFRSF12A, KRT90P, MIR342, MIR99B, WNT16, MIR331, TRPV2, SYNPO2, PCYOX1, DCDC2, ADTRP, MIR17HG, HSPA14, INSIG2, ABHD5, ADIPOR1, DAB2IP, DSE, CERS2, CALML6, RHOD, VSX1, MIR451A, MIR429, BDNF-AS, IL22, MIR383, PAQR7, IRX4, FOXP3, MLXIPL, MIR382, TNNI3K, CNDP1, MIR99A, SLC35E3, PPP6R3, RLS1, MIR216A, RMST, ATG16L1, PRMT6, NADSYN1, SPRED2, NAT10, MIR200B, SCLY, MIR197, ZBTB7C, PRSS55, MGLL, MIR188, MIR185, KIAA1109, GPRC5D, TRPM7, DYM, TRPM4, MARCHF5, MED15, LSR, GHRL, PTCRA, MIR96, SPZ1, ARID4B, ZGPAT, INPP5K, IL17D, TPCN1, FAM3B, HHIPL1, MIR30C2, UGT1A6, MIR30C1, MIR29C, COG2, A2M, NRM, GCLC, GRIA1, FFAR2, GPR15, UTS2R, CXCR3, GP5, GJA5, CXCL2, GJA4, GGT1, GDF10, MSTN, GCK, GC, GRN, GSN, EDNRB, HLA-DQA1, HSD11B2, HRH1, HPD, HOXD13, HNRNPA1, HNF4A, HLA-DMA, HBA1, HLA-C, HDLBP, HDAC2, HTT, HCRTR2, HCRT, GAP43, GALR1, GAD1, ETV2, FAAH, F13A1, F12, F9, F8, F2RL1, FBL, ACKR1, ERCC3, EPHX1, EPHA1, SLC29A1, EGFR, EFNB2, FANCD2, FAT1, FCGR2A, FDFT1, FDXR, FER, FGF2, FHL1, FHL2, VEGFD, FOXC2, FOXM1, FLNB, FLT3LG, FOLH1, FOS, FOSB, HSF1, HSF4, HSPA1B, MC3R, MFAP4, MEN1, MAP3K3, MEIS1, DNAJB9, ADAM11, MBP, LRP1, MB, MAT1A, MAPT, MAP4, EPCAM, LRPAP1, MIF, FOXO4, MMP3, MMP11, MMP13, MMP14, MPI, MPZ, MRC1, MSR1, MST1, MT1A, MT1B, CYTB, ND5, RNR2, MTRR, LRP6, LOXL1, HSPA2, IL5, ITGB4, ITGB2, IRF6, IRF5, CXCL10, TNFRSF9, IL4R, LNPEP, IL1R1, IGFBP4, IGFBP2, IGFALS, IDH2, IDE, ITPA, JAK2, JUN, JUNB, JUND, KCNE1, KCNJ11, KCNMA1, KCNN4, KLKB1, KRT7, LGALS1, LGALS2, LGALS3BP, LIPA, LIPE, LMNA, EEF1A1, EDN2, TRNL2, ATP4A, CCND1, BCHE, BBS4, BBS1, ATP5PF, ALDH7A1, ATP12A, BCL2L1, ATHS, ATF3, ARSD, ARNTL, ARG2, AR, BCL2A1, BCL3, LPAR1, BMPR1A, CAV3, CASR, CAPN1, CAMP, CAPN5, SERPING1, BMP2, TNFRSF17, BHMT, CEACAM1, BGN, CFB, BDKRB2, BCR, AQP7, AQP4, AQP1, ACYP2, AKT2, NR0B1, AGRP, ACAN, ADRA2A, ADAM8, ACVRL1, APOH, ACP1, ACHE, ACAT1, ABL1, ABCA2, AAVS1, ALCAM, ALDH9A1, ALOX15, ALPL, ALPP, AMBP, AMCN, AMD1, AMD1P2, AMH, ANG, ANXA5, ANXA7, AOC2, APCS, APEX1, BIRC3, RUNX1, RUNX3, SERPINH1, NKX2-5, CYP2B6, CYP1A1, CTSL, CTSD, CTRL, CTNNB1, CSTB, CREM, VCAN, CSN3, CSN2, CSF3, CSF1, CRY1, CYP2C18, CYP3A5, CYP27A1, DACH1, DCN, DDT, DES, DHCR7, DMBT1, DMD, TRDMT1, DNMT3A, DRD4, TSC22D3, HBEGF, ECE1, TYMP, CRMP1, CPOX, CD6, CDK8, CENPC, CEBPD, CEBPB, CEBPA, CEACAM5, CDK9, CDC42, CORT, CDC25C, CD74, CD40, CD86, CD28, CD19, CES1, CETN1, CGA, CHGB, CHM, CISH, CLCN3, CLCN7, LTB4R, CMM, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, KLF6, TRNL1, MUC1, PACSIN2, MBTPS1, TMEM11, IQGAP1, IL18R1, IL18RAP, CREG1, TNFRSF10B, TNFRSF25, GGH, GALNT4, BECN1, VAMP8, SOCS1, TP63, DENR, SOCS2, CCN6, TNFAIP6, ARTN, DCLK1, OSMR, HGS, ARHGEF1, ANGPTL1, AIP, CCRL2, HDAC3, KALRN, TIMELESS, AP1G2, SPHK1, VNN1, ALKBH1, CYP4F2, RGS5, SOAT2, VDAC1, YWHAZ, XDH, WNT5A, NSD2, VTN, VHL, UTRN, NR0B2, UCP1, UCN, TYMS, TXNRD1, TNFSF4, TRPC1, LRP8, BSND, LEPQTL1, LAG5, TFEB, TFPI2, ARHGEF5, FOSL1, AAAS, HMGA2, AKAP1, TAM, ESS2, KDM5D, DYSF, ACOX2, BRAP, MSC, GPR55, CD163, PROCR, GJB6, NES, TRAF3IP2, OGA, CORIN, TXNIP, CIB1, FSTL3, STK25, FST, PPIH, IFI30, SPON2, APBB3, CCL27, HPSE, PROKR1, GADD45G, COPS8, PRDX3, GPR75, STIP1, KCNQ1OT1, KLK11, ESM1, WDR5, ADAMTS5, WDHD1, SLC2A6, NISCH, WIF1, EFS, SPRY2, SLIT2, H6PD, ELMO1, PCLAF, RIPOR2, NOS1AP, PPP6R2, NUP155, GMFG, SPRY1, ADAMTS1, CHST3, MAP4K4, AIM2, MED23, COX5A, MAGI2, RNF10, MFN2, SLC23A2, SCO2, NAALAD2, SRA1, PDCD6IP, SLC17A4, DNM1L, PTPRU, GPC6, PPIF, LRPPRC, G3BP1, ABI2, PRG4, TRAF6, TLR1, MYH7, PRKD1, EIF2AK2, MAPK10, MAPK9, MAPK8, MAPK7, PRKG1, PRKCA, MASP1, PRKAR2A, PRKAR1A, PREP, PPID, PODXL, SEPTIN4, PRL, RELN, TIMP4, RAC1, RNASE3, RNASE1, RIEG2, RELA, RASGRF1, RARA, PTPN11, HTRA1, PTGER3, PTGER2, PTGDS, TAS2R38, PTAFR, PSMA6, PMP22, PMM2, PLK1, NOTCH4, OPA1, OGG1, NR4A2, NUCB2, NT5E, NPY1R, NNMT, PLIN1, NME1, NM, NFKB1, NF1, MYOD1, MYLK, OPRK1, SLC22A18, OSM, OXA1L, PAEP, SERPINB2, PC, PCBP1, PDE4D, PDGFB, ENPP3, PDR, PEPD, SLC25A3, PIN1, PIP, PLAUR, BRD2, RNU1-4, ROBO1, STAT4, ADAM17, SYT1, ABCC8, SULT1A1, STK11, SULT1E1, SERPINA3, SMS, STAT2, ST13, SSB, SRM, SOS1, SORL1, TACR1, TAGLN, TAL1, TBXAS1, TRA, TERC, TERF1, TERT, TFR2, TFRC, TGFBR1, TGFBR2, THBS2, THBS4, THPO, TIAM1, TIMP1, SNAP25, SMPD1, RPE, SCN2A, CCL20, CCL7, CCL3, SCT, SCN10A, SCN8A, ACSM3, SMO, SAG, RYR3, RYR2, RYR1, RPS20, RPS6KB1, CCL21, CCL22, CCL23, SFRP1, SHC1, SLC1A5, SLC5A1, SLC6A7, SLC8A1, SLC9A1, SLC10A1, SLC12A3, SLC19A1, SLC20A2, SLC22A2, SLPI, SMARCA4, LOC113664106
  • Succinic Semialdehyde Dehydrogenase Deficiency GeneReviews
    Diagnosis Suggestive Findings Succinic semialdehyde dehydrogenase (SSADH) deficiency should be suspected in individuals with the following clinical, imaging, EEG, and supportive laboratory findings: Clinical features. Late-infantile to early-childhood onset, slowly progressive or static encephalopathy characterized by: Cognitive deficiency Prominent expressive language deficit Hypotonia Epilepsy Hyporeflexia Ataxia Neuroimaging features Cranial MRI that demonstrates: A pallidodentatoluysian pattern [Pearl et al 2009c], showing increased T 2 -weighted signal involving the globus pallidi bilaterally and symmetrically, in addition to the cerebellar dentate nuclei and subthalamic nuclei T 2 -hyperintensities of subcortical white matter and brain stem Cerebral atrophy Cerebellar atrophy Delayed myelination Magnetic resonance spectroscopy that demonstrates elevated levels of GABA and related compounds in the Glx peak (e.g., GHB [gammahydroxybutyrate, also known as 4-hydroxybutyric acid], glutamate, and homocarnosine) EEG findings. ... Clinical Characteristics Clinical Description SSADH deficiency is characterized by a relatively non-progressive encephalopathy presenting with hypotonia and delayed acquisition of motor and language developmental milestones in the first two years of life. Common clinical features include intellectual disability, behavior problems, and motor dysfunction. ... GABA transaminase deficiency was first reported in an index sibship and an additional unrelated proband [Medina-Kauwe et al 1999], and then in an infant identified using MR spectroscopy [Tsuji et al 2010].
    ALDH5A1, ALDH1B1, GPLD1, FBN1, GABBR1, SKI, ADHFE1
    • Succinic Semialdehyde Dehydrogenase Deficiency OMIM
      Clinical Features Jakobs et al. (1981) reported a patient with neurologic abnormalities and urinary excretion of gamma-hydroxybutyric acid. ... Delayed development was the main feature. He did not have ataxia, oculomotor apraxia, or seizures. ... Less common features included abnormal eye movements and psychosis in older patients. ... They reported 11 additional patients and reviewed the clinical features of 51 previously reported patients. Age at diagnosis ranged from 1 to 21 years. The main clinical features included mild to moderate mental retardation, disproportionate language dysfunction, hypotonia, hyporeflexia, autistic behaviors, seizures, and hallucinations.
    • Succinic Semialdehyde Dehydrogenase Deficiency Wikipedia
      Later cases reported in the early 1990s began to show that hypotonia , hyporeflexia , seizures , and a nonprogressive ataxia were frequent clinical features as well. [3] SSADH deficiency is caused by an enzyme deficiency in GABA degradation. ... This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen. [2] Contents 1 Signs and symptoms 2 Genetics 3 Mechanism 4 Diagnosis 4.1 Neuroimaging 4.2 Laboratory 5 Treatments 5.1 Vigabatrin 5.2 Sodium valproate 5.3 GABA B receptor antagonist: CGP-35348 5.4 GABA B agonist: baclofen 5.5 Taurine 5.6 Ketogenic diet 5.7 Other interventions 6 Research 6.1 Animal models 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] The symptoms of SSADH deficiency fall into three primary categories: neurological, psychiatric, and ocular . The most constant features seen are developmental delay, hypotonia and intellectual disability. ... Lower doses (30–50 mg/kg per day) is associated with fewer side effects and greater improvement of clinical features at high doses of the therapeutic. ... There is a lot of literature that indicates that taurine acts as antagonist at GABA A and GABA B receptors which may further enhance its ability to treat patients with SSADH deficiency, but further pharmacological studies are yet to be conducted to see if taurine could serve a therapeutic purpose. [9] Taurine has been successfully used in a single case open study in a child with SSADH deficiency; with resolving of brain lesions, and improvement in coordination and gait. [15] Ketogenic diet [ edit ] During prolonged periods of fasting, ketone bodies serve as the primary energy source for the brain.
    • Succinic Semialdehyde Dehydrogenase Deficiency Orphanet
      A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. Epidemiology Approximately 450 cases have been reported in the literature to date. Clinical description The mean age of onset is 11 months. Contrary to what is seen in many metabolic encephalopathies, patients do not present with hypoglycemia, hyper-ammonemia, or intermittent lethargy. Infants usually present with a slowly progressive or static encephalopathy manifesting with hypotonia, hyporeflexia, ataxia and delayed acquisition of motor and language developmental milestones in the first two years of life. Seizures occur in more than half of all affected individuals and are usually generalized tonic-clonic or atypical absence.
    • Succinic Semialdehyde Dehydrogenase Deficiency MedlinePlus
      People with this condition can also have problems controlling eye movements. Less common features of succinic semialdehyde dehydrogenase deficiency include uncontrollable movements of the limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle twitches (myoclonus), and a progressive worsening of ataxia.
    • Succinic Semialdehyde Dehydrogenase Deficiency GARD
      Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.
  • Alkaptonuria GeneReviews
    Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. ... Diagnosis Suggestive Findings Alkaptonuria should be suspected in individuals with any of the following major features: Dark urine or urine that turns dark on standing. ... A deep purple or black discoloration may be seen on the skin of the hands, corresponding to the underlying tendons, or in the web between the thumb and index finger. Arthritis, often beginning in the spine and resembling ankylosing spondylitis in its large-joint distribution. ... Comprehensive genome sequencing (when available) including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered if serial single-gene testing (and/or use of a multigene panel) fails to confirm a diagnosis in an individual with features of alkaptonuria. For an introduction to comprehensive genomic testing click here.
    HGD, CHIT1, CYLD, TNMD, MFT2, APCS, COMP, ELANE, SH2D1A, TNFRSF11B, TNFSF11, DKK1, ARL13B
    • Alkaptonuria OMIM
      The manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and arthritis, especially characteristic in the spine. Clinical Features Cunningham et al. (1989) observed rapidly evolving osteoarthrosis of the right hip in a 65-year-old woman who had unusual stress after being forced to abandon a train as a result of a bomb threat and having to carry 2 heavy suitcases. ... In Turkey, Elcioglu et al. (2003) described a 39-year-old male patient with typical features of alkaptonuria. In addition to the typical changes in the skin at many sites and in the pinnae and sclerae, there were grayish-blue longitudinal rigging of his fingernails and bluish-gray pigment deposition on the tympanic membrane.
    • Alkaptonuria MedlinePlus
      People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.
    • Alkaptonuria GARD
      Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and arthritis in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.
    • Alkaptonuria Orphanet
      Fractures of the vertebrae and long bones are also possible. Other features may include genitourinary (e.g. renal, bladder, prostatic stones) and cardiac (mitral valvulitis, arrhythmias) complications as well as respiratory insufficiency due to musculoskeletal involvement.
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques OMIM
    The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). Clinical Features Olmsted (1927) reported an Italian American boy who had onset of disease at age 18 months and, at 5 years, had symmetric massive yellow-gray horny plaques on his palms, divided into a mosaic pattern by several deep fissures. ... Several mitoses were seen within the basal and occasional suprabasal keratinocytes, and the mitotic index (2.5%) was greater than that of a control specimen. ... Because of extreme foot pain, the patient walked on hands and knees, resulting in mild palmar keratoderma, and used a wheelchair from age 3 years. Other features included increased sweating, thin brittle fingernails, and fine, dry, curly, and unmanageable hair. ... Examination of skin biopsies from 1 of the boys showed features suggesting that the disorder is related to epidermal hyperproliferation, including numerous centrioles by electron microscopy, increased mitotic count by histology, and increased numbers of silver-staining nucleolar organizer regions (AgNORs) on histochemical analysis.
    • Olmsted Syndrome GARD
      Olmsted syndrome , also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer.
  • Von Willebrand Disease, Type 2 OMIM
    For a general discussion and a classification of the types of von Willebrand disease, see VWD type 1 (193400). Clinical Features Von Willebrand disease type 2, like VWD type 1, is characterized by excessive mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery (Mannucci, 2004). ... Riddell et al. (2009) concluded that the defect was distinct from VWF type 2M, in that type 2M is also characterized by impaired binding to platelet GP1BA and can show a full range of associated VWF multimers. Other Features An association between aortic stenosis and hemorrhage from gastrointestinal angiodysplasia has long been recognized. ... Type IIE is associated with a reduction of high molecular weight (HMW) VWF multimers and a lack of outer proteolytic bands on gel electrophoresis, indicating reduced proteolysis. Genetic analysis of 38 such index cases identified 22 different mutations in the VWF gene, most of them affecting cysteine residues clustered in the D3 domain. ... She had very low levels of VWF and F8, and absent binding of VWF to F8. Clinical features included epistaxis, hematomas, and hematemesis throughout childhood.
    VWF, F8, COX8A, SPRR2A, CLEC4M, STXBP5
    • Von Willebrand Disease Type 2 Orphanet
      A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. Epidemiology The subtypes of type 2 VWD account for between 20-45% of cases of VWD. Clinical description Age of onset of the bleeding anomalies varies, with earlier onset being associated with more severe VWF deficiency. Four type 2 VWD subtypes have been described: types 2A, 2B and 2M are characterized by mucocutaneous manifestations (menorrhagia, epistaxis, gastrointestinal hemorrhage etc.); type 2N is mainly characterized by post traumatic soft tissue bleedings.
  • Congenital Disorder Of Glycosylation, Type Ia OMIM
    In a review, Hagberg et al. (1993) stated that CDG I had been diagnosed in 45 Scandinavian patients and presented different clinical phenotypic features of the syndrome according to period of life. ... Hagberg et al. (1993) summarized the features of CDG IIa and compared them with those of CDG I. ... Barone et al. (2008) reported 2 adult Sicilian brothers with CDGIa confirmed by genetic analysis (601785.0001; 601785.0003). Clinical features in both patients included early-onset cerebellar atrophy, mental impairment, pigmentary retinopathy, and dysmorphic features. The younger brother, patient 2, was more severely affected and had additional features, including abnormal subcutaneous fat distribution, inverted nipples, genu valgum and flat and inverted feet. ... Patients from 12 families had a typical type I transferrin profile, but one had a variant profile and another, who had many clinical features of CDG type I, had a normal profile.
    PMM2, PMM1, MPI, LEMD3, AHCY, GYPA, GYPB, GYPE, OGA, ALG6
    • Pmm2-Cdg (Cdg-Ia) GeneReviews
      More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that includes PMM2 ) fails to confirm a diagnosis in an individual with features of PMM2-CDG ( CDG-Ia ). For an introduction to comprehensive genomic testing click here. ... Although distinctive facies (high nasal bridge and prominent jaw) and large ears have been reported in the northern European population, these features have not been emphasized in reports of affected individuals in the US [Krasnewich & Gahl 1997, Enns et al 2002]. ... Note: The relatively specific findings of PMM2-CDG ( CDG-Ia ) including dysmorphic features, inverted nipples, and abnormal fat pads may disappear with age and are occasionally absent in milder cases [Funke et al 2013]. ... Other genetic disorders to consider in the differential diagnosis Prader-Willi syndrome Congenital muscular dystrophies including Fukuyama congenital muscular dystrophy (FCMD) caused by mutation of FKTN , muscle-eye-brain (MEB) disease caused by mutation of POMGNT1 [Yoshida et al 2001, Martin & Freeze 2003], and Walker-Warburg syndrome, caused by mutation of POMT1 Congenital myopathies (e.g., X-linked myotubular myopathy, multiminicore disease [OMIM 606210, 180901]) Many metabolic and genetic disorders that present in infancy share at least some of the clinical features of PMM2-CDG ( CDG-Ia ). The following metabolic disorders are in the differential diagnosis of hypotonia, developmental delay, and failure to thrive: Mitochondrial disorders (see Mitochondrial Disorders Overview) Peroxisome biogenesis disorders, Zellweger syndrome spectrum Urea cycle defects (see Urea Cycle Disorders Overview) Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PMM2-CDG ( CDG-Ia ) the following evaluations are recommended [Jaeken & Carchon 2001, Jaeken & Matthijs 2001, Grunewald et al 2002, Kjaergaard et al 2002, Miller & Freeze 2003, Grünewald 2009]: Liver function tests Measurement of serum albumin concentration Thyroid function tests to evaluate for decreased thyroid binding globulin, elevated serum concentration of TSH, and low serum concentration of free T4 Coagulation studies including protein C, protein S, antithrombin III, and factor IX Urinalysis to evaluate for proteinuria Measurement of serum concentration of gonadotropins in adolescent and adult women to look for evidence of hypogonadotropic hypogonadism Echocardiogram to evaluate for pericardial effusions Renal ultrasound examination to evaluate for microcysts Formal ophthalmologic evaluation since ocular anomalies are frequent and can involve both the structural components (development of the lens and retina) as well as ocular mobility and intraocular pressure [Morava et al 2009, Thompson et al 2013] Consultation with a clinical geneticist and/or genetic counselor with inclusion in a multidisciplinary team if needed Treatment of Manifestations Failure to thrive.
    • Pmm2-Cdg (Cdg-Ia) GARD
      Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive , seizures, and distinctive facial features. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure.
    • Pmm2 Deficiency Wikipedia
      PMM2 deficiency Other names Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency [1] ,Jaeken Syndrome, PMM2-CDG , CDG1a PMM2 protein PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2 . It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “ congenital disorders of glycosylation ” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide. Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 References Signs and symptoms [ edit ] Failure to thrive (FTT) - Failure to gain weight and grow at the expected rate. [2] Cerebellar hypoplasia - Small cerebellum, which is the part of the brain that coordinates movement. [3] [4] [5] [6] [7] Liver disease - Elevated liver function tests. [8] Pericardial effusion - Fluid around the heart. [9] Peripheral neuropathy (PN) - Impaired nerve impulse transmission to the legs. Patients do not respond well to reflex tests. [10] Strabismus - Crossed eyes, mainly presented as infantile Esotropia [11] Nystagmus - Involuntary eye movements caused by Cerebellar ataxia . [11] [12] Hypotonia - Weak muscle tone, commonly known as floppy baby syndrome. [13] Diagnosis [ edit ] PMM2 deficiency is diagnosed through genetic sequencing.
    • Pmm2-Cdg Orphanet
      PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
    • Pmm2-Congenital Disorder Of Glycosylation MedlinePlus
      Infants with PMM2 -CDG also frequently have an underdeveloped cerebellum , which is the part of the brain that coordinates movement. Distinctive facial features are sometimes present in affected individuals, including a high forehead, a triangular face , large ears, and a thin upper lip .
  • Heart Failure Mayo Clinic
    Irregular heart rhythms may cause the heart to beat too fast, creating extra work for the heart. ... Irregular heartbeats, especially if they are very frequent and fast, can weaken the heart muscle and cause heart failure. ... This quick and painless test records the electrical signals in the heart. It can show how fast or how slowly the heart is beating.
    NPPB, GRK2, TNF, ADRB1, NOS3, ACE, ATP2A2, NPPA, EDN1, HIF1A, AGT, AGTR1, IL6, PPARGC1A, CCL2, HMOX1, SOD2, MSTN, ADRB3, RAC1, HTR2B, GDF15, NRG1, PTH, ADIPOQ, IL1B, CRP, CCN2, AVP, REN, VEGFA, NR3C2, ALB, PIK3CG, EDNRA, GCG, PPP1R1A, PPARG, SIRT1, NFE2L2, CYBB, ADRA2C, PTGS2, TNFRSF1A, UCN2, SLC9A1, NOX4, SERPINE1, PRL, PON1, NOS2, VWF, EDNRB, RETN, PEBP1, TLR2, AVPR2, OLR1, POMC, EPHX2, GSK3B, CSF2, CS, XDH, CXCL8, NPR1, RBP4, IFNG, SOD3, TNNT2, ACACA, UCP1, CFD, CSF3, ACADS, ROCK2, GATM, HAND2, NRIP1, CAT, PDGFRA, TBX20, BAMBI, CSRP3, NOX1, PCK1, CIDEA, CASP3, PTGS1, MMP9, PDPK1, FIP1L1, INS, ITGB1, IGF1, MAP2K7, CALR, HSPB1, GHRL, KAT8, RYR2, PRKAR2B, SCN5A, TP53, LGALS3, CXCL2, GPX4, PLN, SOD1, ELOVL6, SOX4, MME, PLAT, ACE2, APLN, FASN, ADM, DSTN, FBLN5, ATP2A1, ACLY, ADRB2, APOC1, APCS, ATP1A3, PRKCA, SLC8A1, IL10, IL17A, ERBB2, MTPN, MMP2, CASQ2, POSTN, SIRT3, NR3C1, MYH7, MYH6, MMP1, HSF1, TIMP1, PRKCB, BNIP3, NOS1, GNAQ, AGTR2, ADAM17, SCD, NPY, TNFRSF11B, ALOX15, P2RX4, NCAM1, OPA1, TH, MAS1, HMGB1, PARP1, UCP3, TIMP2, BCL2, ENG, FXYD1, HP, SRI, BAX, PGF, KCNK2, CX3CR1, CORIN, KCNE1, HTR2A, IL6R, ERBB4, ECE1, TIMP4, DDR1, ARRB1, PPP1CC, DYNLL1, UCP2, RAMP2, FASLG, PLCD1, RNLS, MDH2, ENDOG, TUBB, FKBP1B, MMP13, DNMT1, MED1, LIF, CYP11B1, PLD2, MMP14, DIO3, MMP8, NOS1AP, FOS, TOMM70, OGT, CHRM4, CHRNA4, BECN1, SELP, BIRC5, NPTXR, FOSL1, SCN8A, CASP12, MYOD1, ALOX12, NGFR, GRK1, FTH1, ACAN, FAS, CDKN2B-AS1, TCF7L2, SLC39A8, FTO, RFC1, POLK, CELSR2, ADAMTSL1, SEMA5B, IL1A, ANGPT1, CMTM7, TM7SF2, TLR4, AMPD1, CERT1, ADRA1A, S100A1, EHMT1, REG1A, APLNR, GRK5, GPR42, FSD1L, C1orf21, ADRA2B, ANGPT2, SLC6A8, SSTR4, COPD, ST2, SLC5A2, LIPC, FADS1, LMNA, GRHL1, GCKR, GH1, ITPK1, GJA1, GLP1R, BRS3, CHDH, NUBPL, LCN2, TGFB1, OTUD7A, CYTH3, MAML3, ZGLP1, CST3, BEST1, MAPK14, FADS2, MIR21, LINC01782, SLC30A3, PIK3CD, LIPC-AS1, PIK3CB, PIK3CA, FGF23, CXCR6, SUGP1, CPNE5, ACTB, SIK3, ALDH1A2, MIR423, ZPR1, CALCR, BAZ1B, CA5A, VPS51, ANKS1B, ACKR3, LPAR2, MYBPC3, CELSR1, DSPP, TTN, PLCG1, BAG3, DPP4, DNAH8, TNNI3, ZCCHC8, DMD, FSD1, TTR, ATP2B1, C8orf37-AS1, ZFHX3, PPARA, IL18, CAD, DECR1, DES, LEP, HLA-C, KNG1, ATM, CYP11B2, GOLGA6A, APRT, RCBTB1, MFAP1, DNM1L, MIR25, MUC2, MARCKSL1, MRGPRX3, AIMP2, AGER, MAPK1, AKT1, VN1R17P, FZD4, BDNF, GPR166P, MRGPRX4, ALDH2, RNF19A, POLDIP2, LOX, STAT3, MRGPRX1, GPRC6A, SPP1, GPR151, LPAR3, AHSA1, CRK, LGR6, OXER1, GRAP2, HGF, UTS2, SLC33A1, PDE5A, HSPB7, GABPA, UTRN, GATA4, MEF2A, PGR-AS1, SGCD, KLF15, HAVCR1, JPH2, MTOR, PRKAA2, CAV3, BIN1, HSPA4, IL6ST, CSH1, CSH2, CYP2D6, MTCO2P12, MIR499A, CCHCR1, SELENBP1, CTF1, PCSK9, ERCC8, COX2, CRMP1, PPARGC1B, MPO, PKP2, DENR, CHGA, SHBG, EGFR, DAPK2, LRPPRC, MFN2, NM, HSPA9, TRPC3, MIR214, SRF, PPP1R2C, SMAD3, CENPJ, IL4, PRKAA1, PITX2, IL33, NPR2, NPPC, PRKD1, PTEN, INSRR, NFKB1, LPA, SERPINA3, DSP, TNFRSF1B, ATXN1, MMRN1, TIMELESS, MIR150, TRPC6, SDC4, MIR34A, BRD4, APOE, ANXA5, MIR665, EPO, TFAM, CD36, TAZ, CD34, TAC1, FSTL1, BRCA1, XBP1, ANKRD1, PRRT2, ARHGEF5, MUC16, HCN4, MIR221, SERPINA1, GINGF2, PENK, THBS2, PPIA, TLX1NB, MB, MAOA, SETD2, AXL, MIR126, TRPV1, PTPA, MIR22, PIN1, PTK2B, MIR19A, MIR223, MAP3K5, ABCB6, ABCB1, CCR2, FSTL3, ACVRL1, TXN, MIR199A1, RBM20, MIR146A, IL37, MIR199A2, TPM1, PINK1, MIF, CDK9, TPI1, DBP, CHAMP1, MS4A1, S100B, PNPLA2, RND3, TET2, FST, PSEN1, SCARA3, RBFOX1, SEMA4D, OSM, P2RX1, HCRTR2, NLRP3, PTPN1, IL34, P2RX7, NR4A1, TLX2, KRT20, IGFBP7, MOV10L1, P2RY2, MORF4, DNER, ROS1, MOK, RLN2, TNFRSF12A, AAVS1, NPR3, MAPK8, GRK3, SMYD1, SLC2A1, PRKAB1, HDAC4, FOXO3, TNNI3K, SLPI, CCK, CCN5, MLC1, ERBIN, PDE9A, PDK1, PIM1, CFLAR, P2RX6, MPRIP, NOD1, RACK1, SERPINA5, PDE4D, SLCO1B1, PDE4A, ARID1A, PDE3A, TNFRSF10B, LONP1, ANGPTL2, P2RX2, NNT, SPON1, PPIG, CD163, CXCR4, DUOX1, WNT5A, PCSK6, RIPK3, SMARCA4, SLN, GAL, SLC9A3, SLC6A2, SLC5A1, GP6, MAPK3, CASZ1, SGK1, RNF111, CCL21, CCL19, ISYNA1, SIRT6, NR1H4, RYR1, HDAC5, PTX3, RPGR, LUC7L3, ROCK1, DUOX2, STIM1, HAND1, QRSL1, VIP, VDR, PKD2, UMOD, ADCY10, GAL3ST1, UCN, SUMO1, TWIST1, TRPC1, TRAF6, CTCF, MFN1, GDF11, TNNC1, CHEK2, TLR3, HDAC9, TIMP3, TGM2, PYCARD, ZEB1, TBK1, UBR5, SLC35A1, MIR155, HSPD1, AVPR1A, F2RL1, NEXN, F8, IGHG3, IGFBP4, F10, IGF2, HCN2, ICAM1, BDH1, TNC, HTR4, BMI1, CPB1, ATP2B4, CXCR2, MIR212, ITPR1, ARRB2, HOPX, C20orf181, CRHR2, STS, G6PD, MIR208B, MIR210, ITGA2B, IRF1, INSR, CXCL10, ILK, CREM, CP, BMPR2, ERN1, BNIP3L, CASP1, MIR24-1, MIR27B, TRIM72, MIR342, MIR340, MIR29B1, GNB3, CRYGEP, GHSR, MIR29B2, MIR30A, FXN, GAS6, TMTC3, CAPN1, GSN, GSR, FGF2, HSF2, MIR216A, HRC, DBH, BSG, UCN3, FGFR4, RBM24, HFE, CFH, VEGFD, CAMK2D, CNP, MIR425, FBL, CRH, KCNH2, TMBIM1, ACTC1, CREBZF, ADCY6, MIR195, MYLK, PRDM16, MIR132, ACR, DSG2, COX1, DUSP1, S1PR1, MMP12, P2RX5-TAX1BP3, CYP1B1, HAMP, KMT2A, NQO1, P2RY1, P2RX5, P2RX3, ABCA4, CST12P, MIR18A, NT5E, ACHE, SLC24A3, CCN3, BIRC6, CYP2J2, CNOT3, ACADM, MMP3, MIR130B, ANXA2, MECP2, CRX, LAMP2, APP, APOA1, CRYGC, ENPEP, COL18A1, LTBP2, LUM, CTSD, CTNNA1, ANG, CTNNB1, ELAVL2, CHI3L1, MGP, ATG7, MIR19B1, ALAS2, AKR1B1, GNPTAB, TXN2, SLC17A5, MIR197, AMACR, TOR1AIP1, SMUG1, BACE1, DDAH1, MIR296, MIR30C1, MIR30C2, MIR30E, OPTC, MIR17, RBFOX2, MIR199B, MIR208A, OSBP2, MIR20A, FOXP1, OPLAH, IL17RA, PHLDA3, DIANPH, MIR185, PART1, BRD1, MIR183, ITGB1BP2, MIR200B, MIR23A, LRIT1, MIR182, MTO1, FAM20C, MIR33A, LIAS, KLRC4-KLRK1, PRDX3, PPR1, TMX2-CTNND1, CKAP4, FERMT2, LILRB4, BACE1-AS, SUGT1, NPPA-AS1, MIR1306, BVES, HLP, TRAP, WDHD1, INSL6, FASTK, FAME3, NISCH, AK6, PDXDC2P, CXCL13, PERCC1, SLU7, GNLY, SCGN, LINC02210-CRHR1, OPN1MW3, LILRB1, NPY4R2, LINC-ROR, MIR4491, OGA, YME1L1, TCFL5, PDE10A, MAP4K5, MIR744, SLC39A14, TRS-AGA2-3, PDS5A, NEDD4L, UFL1, MIR375, MIR328, MIR324, MIR148B, SF3B1, MIR409, LMOD2, POTEKP, PLIN5, TNFSF12-TNFSF13, MIR99A, MIR93, POFUT1, ARC, NRON, USP18, MIR652, MIR147B, MIR675, ECD, ACOT7, KLRK1, RNA18SN5, OPN1MW2, MIR650, POTEM, MIR92B, TRIM32, MON2, FRMD4B, MIR539, NCF1, GPD1L, PDS5B, COL6A4P1, MIR148A, ATP5MD, DDIT4, EGLN1, MCU, MLIP, UGT1A1, ADO, TRPM4, ORAI1, GTPBP3, MYLK3, SPZ1, MARCHF1, MOCOS, WIPI1, TCHP, EVA1A, BCL2L12, UNC93B1, DPP9, MTG1, UFM1, CGB8, NBAS, KLF13, TXNRD3, AZIN2, NLK, CMPK1, TGS1, OPN4, RTEL1, TIMM50, CGB5, MAP3K20, TPCN1, MYOCD, CNTN5, TLR9, ORAI3, CYTL1, SLC52A1, AGGF1, RMDN3, ZC4H2, USE1, CACNG6, RBM25, MYL7, BEX1, RHOU, CXCL16, ZKSCAN7, DPP10, TXNDC5, KCNT1, YLPM1, NLN, PDSS2, METTL3, KCNK13, PLSCR4, MAP3K7CL, GIGYF1, GORASP1, DCAF6, WNK1, ADI1, CDK5RAP3, ZC3H12A, DGLUCY, IMPACT, MEG3, ADM2, SLC30A10, CAAP1, SHCBP1, MYH14, SYBU, FKRP, ENAH, TMEM109, VKORC1, UBE2Z, GDE1, FHAD1, MIR145, BTBD8, SLC27A6, HIPK2, CHPT1, NRBP2, UBE2T, C1QTNF9, FFAR4, SLC9C1, LGALS13, ACTBL2, SYPL2, GNL2, RMC1, EMC10, MDFIC, KCNIP3, KCNIP2, EHD3, MCIDAS, SLCO1B3, C1QTNF1, MIR127, MIR144, MIR143, VPS4A, OXGR1, MIR142, MIR137, MIR134, BMP10, EIF3K, TOR2A, MIR106B, MIR100, NPSR1, MAT2B, MALAT1, ENHO, KCP, GSTK1, NEAT1, EHD2, RICTOR, SLCO6A1, LGALS16, UBAP1, BFAR, ASB14, FUNDC1, KLF14, TRPV2, PRKAG2, EMB, TPCN2, RBM45, CMPK2, SUCO, MYOM3, DNAAF1, JDP2, JAML, OMA1, GPBAR1, RMDN2, PPM1K, AMZ1, NOX3, PRSS55, SYCP3, DHRS7C, NLRP6, ASXL1, IL22, AK3, NTM, APIP, PPP1R18, ADAMTS16, HFM, RMDN1, SLC30A8, WBP2NL, ANGPTL4, MMP28, SELE, CIB1, GHRH, FRZB, XRCC6, GAB1, GAD1, GALNT1, GAPDH, GATA3, GC, GCH1, OPN1MW, GDF2, GFAP, CBLIF, FMOD, GNA12, GOLGB1, GP1BA, CXCR3, UTS2R, GPR17, GPR35, GPT, GRIN1, CXCL1, GSK3A, GSTP1, FN1, FLT1, EMD, FKTN, ENO2, EPHA3, EYA4, ESR1, ESR2, ESRRA, ETS1, ETV3, F2, F9, FABP4, FBLN1, FDPS, FLNA, FDXR, FGF4, FGF13, FGFR1, FKBP1A, FKBP1AP1, FKBP1AP2, FKBP1AP3, FKBP1AP4, FOXC1, FOXM1, FOXO1, GUCA2B, GUSB, H2AX, LPL, JAK2, JARID2, KCNA2, KCND3, KCNK3, KCNQ1, LAD1, LAMC2, LCAT, LDLR, LEPR, LGALS1, LTBP3, HADHA, LY75, MAP6, MATN1, MC4R, CD46, SMCP, MDM2, ME1, MEF2C, MEOX1, MGAT1, MICE, ITPR3, ITPR2, ITGB3, ITGB2, HADH, HDAC2, HDC, HK2, HLA-DQA1, HLA-DRB1, HMBS, HMGB2, HNRNPD, HRH2, PRMT1, HSD11B1, HSPA5, HSPG2, ID2, IGF2R, IGFBP1, IGFBP2, IGFBP5, IKBKB, IL1RN, IL4R, IL11, IL13RA1, ILF3, CTTN, ELAVL1, PRMT5, C3AR1, ATP5F1A, ALDH7A1, AVPR1B, BAD, BCL2A1, BGLAP, BGN, BMP4, BMPR1A, BRCA2, BTD, TSPO, C5AR1, ATF3, CA3, CALCA, CAPG, CAST, CASR, CBR3, CD14, TNFRSF8, SCARB2, CD40, CD44, CD68, ATP2A3, ARSL, ELANE, ADORA2B, ABCA1, ABCB7, ABL1, ABO, ACP5, ACTA2, ACTG1, ACTG2, ADCYAP1, ADCYAP1R1, ADD1, ADORA2A, JAG1, ARSD, AHSG, ALCAM, AMBP, ANK2, ANPEP, ANXA6, APOF, XIAP, AQP2, ARG1, RHOA, ARSB, CD69, CDH15, CDK8, DCN, CTSB, CTSG, CTSK, CTSS, CYP1A1, CYP2B6, CYP2C19, CYP2E1, CYP3A4, CYP3A5, DAG1, DAO, GADD45A, CDKN1A, DDT, TIMM8A, DLD, DMPK, DNASE1, DNM2, DNMT3A, DRD2, DUSP2, E2F6, EGR1, EIF4EBP1, CTRL, CTNND1, CTH, CSF1, CDS1, CETP, CGB3, CHGB, CHRM2, LYST, CIRBP, CISH, CLCN3, CLCNKA, CLU, CMA1, CCR4, CCR5, CCR7, CNN1, CNR2, COL3A1, COL11A2, KLF6, CPT1A, CPT2, CRABP1, CRHR1, CSE1L, CXCL9, MITF, MAP3K11, MAP3K12, VDI, VEGFB, VSNL1, NSD2, WNT1, WNT2, XIST, XRCC1, YY1, YWHAE, PCGF2, ZBTB17, SCG2, VCAM1, SLMAP, MANF, REEP5, LAP, TFEB, TCL1A, AKAP1, RBM10, DYSF, IKBKG, PLPP3, STC2, VCP, UVRAG, AFDN, TERF2, SPTBN1, SSB, STAT5A, STAT5B, STC1, SULT1E1, STK11, STRN, SYK, SYT1, TAGLN, TEAD1, TFPI, UGT2B7, TFR2, TFRC, TGFB2, THBS1, THRA, TJP1, TMSB4X, TOP2B, TPT1, CRISP2, TRAF2, TRAF3, PSMG1, TP63, DGAT1, HIPK3, BMS1, MED12, CCS, KCNE2, NR2E3, HDAC6, ABCC9, NR1H3, COX17, IL18BP, DPP3, PPIF, FRY, URI1, NAMPT, RASA4, ATP6AP2, ALYREF, CALCOCO2, STUB1, SPEG, MARCHF6, CNPY2, KLF2, RAPGEF3, YAP1, PIEZO1, MLEC, KMT2B, FAM53B, TNFSF12, TNFSF10, CDS2, SUCLA2, PROM1, NR1I2, SPHK1, NAE1, WASF1, CLDN10, HGS, IL1RL1, MAP3K13, XPR1, IL32, MSC, KL, TSIX, ABCG2, FHL5, PICK1, TBPL1, BCAR1, AKAP12, ISG15, SPTAN1, SPRR2B, SPARC, PF4, OPRD1, OPRM1, ORM1, P4HB, FURIN, PAFAH1B1, PAM, PAPPA, PCMT1, PDC, PDE1C, PDK4, PFN1, PPP1CB, PGK1, PIGF, PITX3, PKD1, PLA2G2A, PLAU, PMP22, POLR2A, PON2, PPA1, PPARD, PPBP, OGN, OGDH, NRF1, NOTCH3, MMP7, MPI, MRC1, MST1, MTTP, TRNT, MMUT, MYC, MYF6, MYL2, MYL3, MYL4, MYOC, PPP1R12A, NAGLU, NDUFAB1, NFATC2, NFATC4, NFE2L1, NFIL3, NGF, NHS, NME3, NNMT, NOTCH1, PPID, PPP1R3A, SOAT1, SFTPB, RPE65, RPL32, RRAD, RYR3, S100A8, S100A12, SAT1, SCN7A, CCL5, CX3CL1, SDC1, CXCL12, SFTPD, PPP1R7, SGCA, SGTA, SIX1, SLC4A3, SLC4A1, SLC6A4, SLC12A2, SLC18A3, SLC22A5, SMPD2, SUMO3, SUMO2, RORC, RNASE3, RHD, RGS4, PPP2R1A, PPP3CA, PPP5C, PPT1, NPY4R, SRGN, PRKCD, PKN1, PKN2, MAPK9, MAP2K3, PROC, PRTN3, PSEN2, PTGER4, PTHLH, PTN, PTPN11, PURB, PVALB, RAB1A, RARRES2, RELA, RENBP, RGS2, HEAT2
  • Travelers' Diarrhea Wikipedia
    "Isolates from Colonic Spirochetosis in Humans Show High Genomic Divergence and Potential Pathogenic Features but Are Not Detected Using Standard Primers for the Human Microbiota" . ... Zucherman, Ed., Principles and Practice of Travel Medicine , John Wiley and Sons, 2001. p.153 Google books preview Archived 2017-09-08 at the Wayback Machine ^ Shlim, DR (1 December 2005).
    SERPINA3, LTF, POTEKP, ACTBL2, ACOT7, FHL5, TBCA, SULT1E1, SLC9A3, TNFRSF11B, IL10, ACTG1, GUCY2C, GUCA2B, GUCA2A, GCY, EMD, MAP3K8, CD14, ACTG2, POTEM
    • Traveler's Diarrhea Mayo Clinic
      Overview Traveler's diarrhea is a digestive tract disorder that commonly causes loose stools and abdominal cramps. It's caused by eating contaminated food or drinking contaminated water. Fortunately, traveler's diarrhea usually isn't serious in most people — it's just unpleasant. When you visit a place where the climate or sanitary practices are different from yours at home, you have an increased risk of developing traveler's diarrhea. To reduce your risk of traveler's diarrhea, be careful about what you eat and drink while traveling.
  • Rubinstein-Taybi Syndrome 1 OMIM
    Hennekam and Van Doorne (1990) commented on short upper lip and pouting lower lip, a feature documented in many photographs by Hennekam et al. (1990). ... Bloch-Zupan et al. (2007) reported detailed orodental features of 40 patients with RSTS ranging in age from 4 to 30 years. ... Many had behavioral problems, such as poor attention span and autistic features, and worsening of behavior over time was reported in about 37%. ... They commented that the typical features of the syndrome increasingly developed in early infancy toward the total 'Gestalt' by the age of 2 years. ... A 2-month-old girl with typical features showed a de novo pericentric inversion of one chromosome 16; her karyotype was 46,XX,inv(16)(p13.3;q13).
    CREBBP, EP300, SMOC1, EIF4E, PCBP4, PAG1, OPN1LW, MECP2, HTC2, RECQL4, ENOSF1, KAT6B, TWIST1, TNFRSF13B, SRCAP, ZEB2, TMPRSS11D, NIPBL, BMP2, SMARCA4, SMARCA2, SLC20A1, CREB1, POU1F1, OGG1, IGFALS, TNC, HBA2, HBA1, FOXG1, SHH
    • Rubinstein-Taybi Syndrome GeneReviews
      The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. ... The diagnosis of RSTS is established in a proband with characteristic clinical features. Identification of a heterozygous pathogenic variant in CREBBP or EP300 confirms the diagnosis if clinical features are inconclusive. ... Note arched brows, downslanted palpebral fissures, low-hanging columella, and grimacing smile. Other features (see Figure 2 and Figure 3) Figure 2. ... However, with the exception of the low-hanging columella, the facial features in EP300 -RSTS are less marked. ... The presence of craniosynostosis and the difference in facial features should differentiate these disorders (see Table 2).
    • Chromosome 16p13.3 Deletion Syndrome, Proximal OMIM
      Rubinstein-Taybi syndrome-1 (RSTS1; 180849) is caused by point mutations or deletions within the CREBBP gene. Clinical Features Bartsch et al. (1999) reported 2 patients with RSTS caused by large deletions of chromosome 16p13.3 who died in infancy, which is rare in RSTS. ... Bartsch et al. (2006) noted that Kimura et al. (1993) had described a Japanese boy with RSTS and features of DiGeorge syndrome (188400) who died at age 20 months. ... The average age at diagnosis was 6.6 years, with an age range of 0.5 to 30 years, and the indications for study included developmental delay, autism spectrum disorder, dysmorphic features, multiple congenital anomalies, epilepsy, and seizure disorder.
    • Rubinstein-Taybi Syndrome Orphanet
      Epidemiology Birth prevalence is estimated at around 1/100,000 to 125,000. Clinical description Facial features, which become more prominent with age, include highly arched eyebrows, long eyelashes, downslanting palpebral fissures, convex nasal ridge, low hanging columella, highly arched palate and micrognathia.
    • Rubinstein-Taybi Syndrome 2 OMIM
      For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (180849). Clinical Features Roelfsema et al. (2005) reported 3 unrelated patients with RSTS2. ... Bartholdi et al. (2007) reported detailed clinical features of 4 RSTS patients with mutations in the EP300 gene; 3 of the patients had been reported by Roelfsema et al. (2005). ... She had marked mandibular retrognathism, requiring surgical correction. Other features included mild myopia, bilateral pes valgus, genu valgum, and scoliosis. ... He also had severe progressive scoliosis and chest deformity. He did not have the cardinal features of RSTS such as the typical facial gestalt or broad thumbs or toes. ... Eight patients had behavioral or social difficulties, and 3 had a diagnosis of autism spectrum disorder. Typical dysmorphic features were variably present. Additional features included scoliosis in 2, syndactyly in 3, feeding/swallowing issues beyond the neonatal period in 3, and hypermobility or dislocation of the elbow in 2.
    • Rubinstein–taybi Syndrome Wikipedia
      Rare genetic condition Rubinstein–Taybi syndrome Other names Broad thumb-hallux syndrome or Rubinstein syndrome [1] Child with Rubinstein–Taybi syndrome Specialty Medical genetics Rubinstein–Taybi syndrome ( RTS ), is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. [2] Other features of the disorder vary among affected individuals. ... Contents 1 Presentation 2 Genetics 3 Treatment 4 History 5 See also 6 References 7 External links Presentation [ edit ] Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). ... Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein–Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development. ... Taybi reported having evaluated seven children with characteristics such as broad thumbs and great toes, “unusual” facial features, and intellectual disabilities – these findings went on to appear in the American Journal of Diseases of Children documenting these characteristics as a syndrome. ... "Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management" .
    • Rubinstein-Taybi Syndrome GARD
      Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.
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