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Birbeck Granule Deficiency OMIM

Clinical Features Birbeck granules (BGs) are rod-shaped cytoplasmic organelles found only in epidermal Langerhans cells (LCs). ... Furthermore, a BG-specific monoclonal antibody failed to stain the individual's LCs. ... Two observations indicated that these BG-negative LCs had normal antigen-presenting capacity. ... Mommaas et al. (1994) concluded that BGs are not a prerequisite for normal LC function. ... Expression of langerin with the W264R mutation in fibroblasts induced tubular-like structures that were not recognized by anti-BG antibodies and that lacked the characteristic structural features of BGs.

CD207

Baller–gerold Syndrome Wikipedia

Baller–Gerold syndrome Other names Craniosynostosis-radial aplasia syndrome, Craniosynostosis with radial defects The inheritance pattern of Baller-Gerold Syndrome Baller–Gerold syndrome ( BGS ) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. [1] The symptoms of Baller–Gerold syndrome overlap with features of a few other genetics disorders: Rothmund–Thomson syndrome and RAPADILINO syndrome . [1] The prevalence of BGS is unknown, as there have only been a few reported cases, but it is estimated to be less than 1 in a million. [1] The name of the syndrome comes from the researchers Baller and Gerold who discovered the first three cases. [2] Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] The Coronal suture The most common and defining features of BGS are craniosynostosis and radial ray deficiency. [3] The observations of these features allow for a diagnosis of BGS to be made, as these symptoms characterize the syndrome. [4] Craniosynostosis involves the pre-mature fusion of bones in the skull. [1] The coronal craniosynostosis that is commonly seen in patients with BGS results in the fusion of the skull along the coronal suture . [5] Because of the changes in how the bones of the skull are connected together, people with BGS will have an abnormally shaped head, known as brachycephaly . [1] Features commonly seen in those with coronal craniosynostosis are bulging eyes, shallow eye pockets, and a prominent forehead. [5] Radial ray deficiency is another clinical characteristic of those with BGS, and results in the under-development ( hypoplasia ) or the absence ( aplasia ) of the bones in the arms and the hands. These bones include the radius, the carpal bones associated with the radius and the thumb. [1] [6] Oligodactyly can also result from radial ray deficiency, meaning that someone with BGS may have fewer than five fingers. [5] Radial ray deficiency that is associated with syndromes (such as BGS) occurs bi-laterally, affecting both arms. [6] Some of the other clinical characteristics sometimes associated with this disorder are growth retardation and poikiloderma . [5] Although the presentation of BGS may differ between individuals, these characteristics are often observed. ... In order for someone to have BGS, they need to have two mutant copies of the gene. ... You can help by adding to it . ( July 2017 ) Treatment [ edit ] While there is no cure for BGS, symptoms can be treated as they arise. ... Retrieved 2015-11-09 . ^ a b c "OMIM Entry - # 218600 - BALLER-GEROLD SYNDROME; BGS" . www.omim.org . Retrieved 2015-11-09 . ^ Mundlos, Stefan; Horn, Denise (2014-01-01).

RECQL4, TWIST1, TNF

Baller-Gerold Syndrome GeneReviews

Summary Clinical characteristics. Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. ... Diagnosis/testing. The diagnosis of BGS is established in a proband with typical clinical findings and/or the identification of biallelic pathogenic variants in RECQL4 by molecular genetic testing. ... Clinical Characteristics Clinical Description Since the original description of Baller-Gerold syndrome (BGS) by Baller [1950] and Gerold [1959], fewer than 40 individuals with BGS have been reported [Mégarbané et al 2000, Van Maldergem et al 2006, Debeljak et al 2009, Siitonen et al 2009, Piard et al 2015, Kaneko et al 2017]. BGS can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. ... Differential Diagnosis The major differential diagnosis for Baller-Gerold syndrome (BGS) comprises the allelic disorders Rothmund-Thomson syndrome and RAPADILINO syndrome (OMIM 266280).
Baller-Gerold Syndrome OMIM

A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (603780) on chromosome 8p24. ... The finding of premature centromere separation pointed to Roberts syndrome rather than BGS as indicated by Huson et al. (1990). ... The patient of Gripp et al. (1999) illustrated the practical significance of the distinction. BGS has been thought to be an autosomal recessive disorder; the Saethre-Chotzen syndrome is an autosomal dominant disorder. ... Molecular Genetics Van Maldergem et al. (2006) pointed out the clinical overlap between the BGS and Rothmund-Thomson syndrome (RTS; 268400) and RAPADILINO syndrome (266280). Because patients with RAPADILINO syndrome and a subset of patients with RTS have mutations in the RECQL4 gene (603780), they reassessed 2 previously reported BGS families and found causal mutations in RECQL4 in both.
Baller-Gerold Syndrome Orphanet

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). Epidemiology Around 30 cases have been reported but the prevalence of the syndrome is unknown. Clinical description Craniosynostosis and radial ray anomalies present at birth and are associated with facial dysmorphism (brachycephaly, ocular exophthalmia, frontal bossing, nasal hypoplasia, small mouth, ogival palate). An inconstant poikiloderma can appear during the first months of life. Delayed growth is nearly always present, usually around -4SD. Patellar aplasia or hypoplasia can be observed during childhood.
Baller-Gerold Syndrome GARD

Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. ... In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown ( poikiloderma ). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene.
Baller-Gerold Syndrome MedlinePlus

Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead , and bulging eyes with shallow eye sockets (ocular proptosis ). Other distinctive facial features can include widely spaced eyes (hypertelorism ), a small mouth , and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly ) and malformed or absent thumbs .

Oculomucocutaneous Syndrome Wikipedia

PMC 1672788 . PMID 1125623 . ^ Amos, HE; Lake, BG; Artis, J (Feb 18, 1978). "Possible role of antibody specific for a practolol metabolite in the pathogenesis of oculomucocutaneous syndrome" .

Saethre-Chotzen Syndrome GeneReviews

Skeletal concerns such as segmentation defects of the vertebrae, parietal foramina, radioulnar synostosis, duplication of the distal hallux, and hallux valgus Congenital heart malformation Short stature A more severe phenotype, indistinguishable from that of Baller-Gerold syndrome (BGS) (see Differential Diagnosis), has been observed. ... Two individuals with clinical features consistent with BGS were found to have novel TWIST1 pathogenic variants. ... Isolated coronal fusion is ~10x more common than SCS. Baller-Gerold syndrome (BGS) RECQL4 AR Bilateral coronal craniosynostosis → brachycephaly w/ocular proptosis & flat forehead In BGS: Radial ray defect, usually w/oligodactyly (↓ # of digits), aplasia or hypoplasia of the thumb, &/or aplasia or hypoplasia of the radius Growth restriction Poikiloderma Rothmund-Thomson syndrome & RAPADILINO syndrome (OMIM 266280), also caused by RECQL4 pathogenic variants, have overlapping clinical features w/BGS.

TWIST1, FGFR2, FGFR3, NEUROD1, TCF12, BGLAP, RUNX2, EFNB1, HTC2, HAND2, SPP1, POSTN, HDAC9, PIK3CG, ADIPOR1, MUL1, ADIPOR2, ROS1, PIK3CA, PIK3CD, PIK3CB, CASP2, PRKN, MSX2, LEP, GLI3, FGFR1, CASP9, CASP3, CBLL2

Saethre-Chotzen Syndrome GARD

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome.
Saethre-Chotzen Syndrome Orphanet

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations. Epidemiology Saethre-Chotzen syndrome (SCS) prevalence ranges from 1/25,000 to 1/50,000 livebirths. Clinical description SCS has a variable spectrum of manifestations. Classic SCS presents at birth with synostosis of coronal (less commonly in conjunction with sagittal, metopic or lambdoid) sutures resulting in abnormal skull shape, facial asymmetry, low frontal hairline, ptosis, strabismus, tear duct stenosis and small ears with prominent crus. Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present. Intelligence is normal in most, but mild to severe developmental delay has been reported, primarily in cases with a large genomic deletion.
Saethre-Chotzen Syndrome OMIM

A number sign (#) is used with this entry because of evidence that the Saethre-Chotzen syndrome (SCS) is caused by heterozygous mutation in the TWIST1 gene (601622) on chromosome 7p21. See also Muenke syndrome (602849), which is caused by a mutation in the FGFR3 gene (P250R; 134934.0014) and has a similar overlapping phenotype to SCS. In addition, at least 1 individual with a phenotype of SCS has been described with a mutation in the FGFR2 gene (176943.0023). Description Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia.
Saethre–chotzen Syndrome Wikipedia

Direct gene testing can determine whether an individual has SCS by testing the individual's blood for mutations in the TWIST1 gene. [7] Differential diagnosis [ edit ] Genetic testing allows for a definitive diagnosis because it allows similar conditions to be differentiated from each other based on which gene is mutated. [2] The following table contains conditions similar to SCS: Condition Symptoms Gene SCS Widely spaced eyes, low hairline, drooping eyes, interdigital webbing, deformed ears, crossed eyes, and downward sloping palpebral fissures TWIST1 Robinow-Sorauf syndrome Widely spaced eyes, deviated septum, flat skull posterior, deformed ears, crossed eyes, protruding jaw, and duplication of distal phalanx TWIST1 Muenke Syndrome Widely spaced eyes, enlarged head, hearing loss , flat cheeks, and low-set ears FGFR3 Crouzon Syndrome Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus , protruding chin, and short humerus and femur FGFR2 & FGFR3 Pfeiffer Syndrome Widely spaced eyes, underdeveloped jaw, beaked nose, hearing loss, and bulging eyes FGFR1 & FGFR2 Apert Syndrome Widely spaced eyes, prominent forehead, flat skull posterior, bulging eyes, low-set ears, flat or concave face, short thumb, and webbed fingers FGFR2 Isolated unilateral coronal synostosis Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS FGFR (any) Baller-Gerold syndrome (BGS) Short broad head, bulging eyes, flat forehead, poikiloderma , radial deformity with reduced number of digits, underdeveloped or missing thumb and radius, and growth retardation RECQL4 Treatment [ edit ] Bone segments that are removed in fronto-supraorbital advancement A child wearing a cranial remolding helmet after surgery.

Smouldering Myeloma Wikipedia

. ^ Rajkumar, SV; Dimopoulos, MA; Palumbo, A; Blade, J; Merlini, G; Mateos, MV; Kumar, S; Hillengass, J; Kastritis, E; Richardson, P; Landgren, O; Paiva, B; Dispenzieri, A; Weiss, B; LeLeu, X; Zweegman, S; Lonial, S; Rosinol, L; Zamagni, E; Jagannath, S; Sezer, O; Kristinsson, SY; Caers, J; Usmani, SZ; Lahuerta, JJ; Johnsen, HE; Beksac, M; Cavo, M; Goldschmidt, H; Terpos, E; Kyle, RA; Anderson, KC; Durie, BG; Miguel, JF (November 2014). "International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma" . ... Blood . 110 (7): 2586–92. doi : 10.1182/blood-2007-05-088443 . PMID 17576818 . Kyle RA, Durie BG, Rajkumar SV, Landgren O, Blade J, Merlini G, Kröger N, Einsele H, Vesole DH, Dimopoulos M, San Miguel J, Avet-Loiseau H, Hajek R, Chen WM, Anderson KC, Ludwig H, Sonneveld P, Pavlovsky S, Palumbo A, Richardson PG, Barlogie B, Greipp P, Vescio R, Turesson I, Westin J, Boccadoro M (Jun 2010).

MYOM2, SDC1, IL1B, CD38, CDKN2A, IL6, PTP4A3, TIMP3, TP53, VEGFA, MSC, SMR3B, ALB, CX3CL1, CARD8, B3GAT1, CD274, SLC12A9, IL21, MIR4741, MIR4633, RASSF1, LY9, MYC, MGMT, CCND1, CASP1, CCND3, CDKN1A, CDKN2B, CDKN2C, CDKN3, DAPK1, FGF2, CCN1, IL6R, CXCL8, KIT, LAG3, B2M, H3P10

Worster-Drought Syndrome Wikipedia

. ^ Clark M, Carr L, Reilly S, Neville BG (October 2000). "Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy.

Suprabulbar Paresis, Congenital OMIM

Clinical Features Called the Worster-Drought (1974) syndrome because of the review of 200 cases by that physician, congenital suprabulbar paresis is characterized by selective weakness and impairment of movement of the orbicularis oris muscle, tongue and soft palate leading to dysarthria and troublesome drooling. In severe cases there is involvement of the pharyngeal and laryngeal muscles in early life. The child cannot protrude his tongue or move it within the mouth and is unable to round the lips to whistle or blow, but since other facial muscles are unaffected, he can smile normally and close his eyes. Worster-Drought (1974) noted familial occurrence in 12 of his 200 patients. Patton et al. (1986) described 4 affected males in 3 sibships of 3 generations of a family.
Worster-Drought Syndrome Orphanet

Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Epidemiology Prevalence is estimated at around 1/25,000-30,000, with a male predominance (male to female sex ratio: 3:1). Clinical description Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. In severe cases, the muscles of the pharynx and larynx are also involved. Epilepsy, learning difficulties and behavioral disturbances are common.
Worster Drought Syndrome GARD

Worster-Drought syndrome (WDS) is a condition that affects the muscles of the mouth and throat; it is considered a type of cerebral palsy . The main symptoms of WDS include difficulties with drooling, swallowing and speaking. Some affected individuals may also have challenges with intelligence, behavior, or seizures. The cause of WDS is currently unknown, though it is believed that both genetic and environmental factors influence the development of this condition.

Kbg Syndrome Orphanet

ANKRD11 is one of the most frequently muted gene in patients with neurodevelopmental disorders diagnosed by whole exome sequencing. Clinical description BG syndrome (KBGS) manifests in childhood with global developmental delay with short stature, mild-to-moderate intellectual disability, characteristic facies, macrodontia of the permanent upper central incisors and skeletal anomalies.

ANKRD11, KAT6B, KDM1A

Kbg Syndrome GeneReviews

Summary Clinical characteristics. KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family. Diagnosis/testing. The diagnosis of KBG syndrome is confirmed in a proband by detection of either a heterozygous pathogenic variant in ANKRD11 or deletion of 16q24.3 that includes ANKRD11 . Management. Treatment of manifestations. Surgical corrections and/or speech therapy for palatal anomalies; nasogastric tube feeding in infants; pharmacologic treatment for gastroesophageal reflux disease; pressure-equalizing tubes and/or tonsillectomy/adenoidectomy for chronic otitis media; consideration of amplification for hearing loss; consideration of growth hormone therapy for short stature and medication to arrest puberty for premature pubertal development; standard treatment of seizure disorder, undescended testis in males, congenital heart defects, strabismus / refractive errors, and developmental disabilities.
Kbg Syndrome OMIM

A number sign (#) is used with this entry because of evidence that KBG syndrome (KBGS) is caused by heterozygous mutation in the ANKRD11 gene (611192) on chromosome 16q24. Description KBG syndrome is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et al. (2011) noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis. Clinical Features Herrmann et al. (1975) described 2 families in which multiple members had short stature, characteristic facies (telecanthus, wide eyebrows, brachycephaly), macrodontia, mental retardation, and skeletal anomalies (abnormal vertebrae, short metacarpals, short femoral necks). Male-to-male transmission occurred in 1 family. (The designation KBG syndrome follows Opitz's practice of using the initials of affected families' surnames.)
Kbg Syndrome Wikipedia

KBG syndrome Symptoms macrodontia , brachycephaly , hypertelorism , synophrys , long philtrum , thin upper lip KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. [1] Features include unusually large upper front teeth ( macrodontia ), wide, short skull ( brachycephaly ), widely spaced eyes ( hypertelorism ), and wide eyebrows that may grow together in the middle ( synophrys ). [2] The syndrome was first described by Herrmann in 1975 in three distinct families. [3] Herrmann proposed the name KBG syndrome after the initials of affected families last names. [4] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050 ^ "KBG syndrome" . Genetics Home Reference . U.S. Department of Health & Human Services, National Library of Medicine. ^ Herrmann J, Pallister PD, Tiddy W, Opitz JM (1975). "The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies". Birth Defects Original Article Series . 11 (5): 7–18. PMID 1218237 . ^ Morel Swols D, Foster J, Tekin M (December 2017). "KBG syndrome" . Orphanet Journal of Rare Diseases . 12 (1): 183. doi : 10.1186/s13023-017-0736-8 .
Kbg Syndrome MedlinePlus

KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia ). Other distinctive facial features include a wide, short skull (brachycephaly ), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys ), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum ), and a thin upper lip . A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2.
Kbg Syndrome GARD

KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically .

Rapadilino Syndrome OMIM

Siitonen et al. (2009) identified homozygosity or compound heterozygosity for RECQL4 mutations in 16 (46%) of 35 Finnish patients with a suspected clinical diagnosis of RTS, RAPADILINO, or BGS. The authors stated that the most common RECQL4 mutation, 1390+2delT in intron 7 (603780.0009), is enriched in the isolated Finnish population and that all Finnish RAPADILINO patients carry at least 1 copy of the mutation.

RECQL4, HFM1

Rapadilino Syndrome MedlinePlus

RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations . The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate ) or a high arched palate ; a long, slender nose; and dislocated joints. Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting.
Rapadilino Syndrome Orphanet

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. Epidemiology Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified. Clinical description Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. Etiology RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer. Differential diagnosis Differential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome.
Rapadilino Syndrome Wikipedia

Rapadilino syndrome Other names Radial and patellar aplasia, Radial and patellar hypoplasia Rapadilino syndrome has an autosomal recessive pattern of inheritance . Specialty Medical genetics RAPADILINO syndrome is an autosomal recessive disorder characterized by: [1] RA : ra dial ray defect PA : pa tellar aplasia , arched or cleft pa late DI : di arrhea , di slocated joints LI : li ttle (short stature), li mb malformation NO : slender no se, no rmal intelligence It is more prevalent in Finland than elsewhere in the world. [ citation needed ] It has been associated with the gene RECQL4 . [2] This is also associated with Rothmund-Thomson syndrome [3] and Baller-Gerold syndrome. [4] References [ edit ] ^ Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations". Am J Med Genet . 33 (3): 346–351. doi : 10.1002/ajmg.1320330312 . PMID 2801769 . ^ Siitonen HA, Kopra O, Kääriäinen H, et al. (November 2003). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases" .

Hiv/aids In Thailand Wikipedia

Retrieved 4 March 2013 . ^ "Weniger BG. History of the Early HIV/AIDS Epidemic in Thailand and Highlights of the Country's Key Contributions to Global Prevention" . The Siam Society, Bangkok, Thailand (Lecture 2019-05-02 @Youtube). ^ "Wangroongsarb Y, Weniger BG, Wasi C, Traisupa A, Kunasol P, Rojanapithayakorn W, Fucharoen S. ... Archived from the original (PDF) on 20 January 2016. ^ "Weniger BG, Limpakarnjanarat K, Ungchusak K, Thanprasertsuk S, Choopanya K, Vanichseni S, Uneklabh T, Thongcharoen P, Wasi C.

Shunt Nephritis Wikipedia

. ^ Black JA, Challacombe DN, Ockenden BG (November 1965). "Nephrotic syndrome associated with bacteraemia after shunt operations for hydrocephalus".

Sporadic Late-Onset Nemaline Myopathy Wikipedia

PMID 16401746 . ^ Bos MM, Overeem S, van Engelen BG, et al. (August 2006). "A case of neuromuscular mimicry".

Type 1 Diabetes Wikipedia

This is a life-threatening issue and children are at a higher risk for cerebral edema than adults, causing ketoacidosis to be the most common cause of death in pediatric diabetes. [74] Treatment of diabetes focuses on lowering blood sugar or glucose (BG) to the near normal range, approximately 80–140 mg/dL (4.4–7.8 mmol/L). [75] The ultimate goal of normalizing BG is to avoid long-term complications that affect the nervous system (e.g. peripheral neuropathy leading to pain and/or loss of feeling in the extremities), and the cardiovascular system (e.g. heart attacks, vision loss). ... Some insulins are biosynthetic products produced using genetic recombination techniques; formerly, cattle or pig insulins were used, and even sometimes insulin from fish. [77] People with type 1 diabetes always need to use insulin, but treatment can lead to low BG ( hypoglycemia ), i.e. BG less than 70 mg/dL (3.9 mmol/L).

PTPN22, HNF1A, INS, HP, IFNG, IL2RA, CASP12, IL10, FOXP3, HLA-DRB1, HLA-DQA1, HLA-DQB1, CLEC16A, SH2B3, GLIS3, TYK2, BACH2, CTSH, C1QTNF6, CD69, CAT, NOS3, TNF, CRP, IGF1, IL6, PRKCQ, KCNJ11, PAX4, SLC29A3, STAT3, SLC11A1, FGF21, IL27, ITPR3, CP, ABCC8, NOS1, PRSS1, HSD11B2, IL20, CCR5, NEUROD1, DDIT3, ICA1, G6PC2, IGF2, PTPRN, STAT4, PTPRN2, AIFM1, CCL20, IL4, CXCL10, IL19, CHRM2, GAD2, GH1, CASP3, APOC3, PDX1, GIMAP5, NOS2, CBLB, IL1R1, LGALS3, AIF1, CD40LG, GSTT1, CD38, VWF, FASLG, CDK4, SELL, EGFR, GAL, TNFSF4, SLC18A2, DOCK8, PRF1, CCL11, AGER, IFNGR2, VAV1, HLA-DPB1, CBL, HLA-DQB2, ADRB1, UGT1A1, IFIH1, TAP2, TAP1, ERBB3, E2F1, HLA-DQA2, PTPN2, IRAK3, YY1, MICA, CD226, HLA-B, HLA-A, CFB, DUSP1, SENP1, LTA, AIRE, INS-IGF2, UBASH3A, MMP2, COX2, RPS26, HLA-DPA1, HLA-DRA, STAT1, ABO, TCF19, IL23R, APOM, PSMB9, TH, HLA-DMB, PSMB8, EIF2AK3, GSDMB, PRRC2A, NAA25, FUT2, MPIG6B, SIRPG, GATA3, BTNL2, MMP14, RNLS, DDX39B, HCG18, SUOX, LST1, AFF3, TNFSF15, MAPK14, HLA-DOB, SPINK1, HLA-DMA, RASGRP1, ND1, SBDS, HSPA1L, CTRC, CUX2, KIAA1109, MSH5, IKZF4, GLRA3, ERAP2, IKZF1, BCL2L15, PGM1, CFTR, TNXB, MEG3, MICB, NEUROG3, ADCY7, SNHG32, RAB5B, STK19, ACOXL, IGF2-AS, KIR3DL1, GPANK1, ABHD16A, SLC30A10, SMAD3, LEP, GATD3A, BTN2A3P, BNC2, H2BC15, H3C12, MAPT, SKAP2, LMO7, USO1, EDA, ATG16L1, BAG6, AGTR1, PSTPIP1, EFR3B, STUB1, HCG9, ATXN2L, IFNA1, IFNA13, EHMT2-AS1, CNOT1, TAX1BP3, FNBP1, FLOT1, NUP210, ADGRL2, CAMSAP2, IL1A, TRIM31, EHMT2, ICAM1, HCP5, HLA-C, ABCF1, PTGFR, IAPP, TRDN, HLA-DRB9, NXF1, HLA-L, AGPAT1, CORIN, HNF4A, SORBS1, TSBP1, SIRT1, GPR35, CRB1, GAD1, ZNRD1, ADIPOQ, PPT2, FLNB, FLT1, CD274, ISG20, CLEC2D, INSR, IL18, IL17A, IL13, GABBR1, GABPA, IL12B, SEC14L2, LINC02357, IL7R, ATN1, LINC02829, GCK, GEM, LINC02571, ACP1, IL2, PRKD2, GLP1R, GLUL, GNAO1, IL1B, GCG, DAG1, MBL2, TRNW, ATP6V1G2-DDX39B, PPP1R18, STOX1, MAGI3, MSH5-SAPCD1, HLA-S, OR10A4, TCF4, HECTD4, KCTD1, LURAP1L, NOTCH4, C2, REN, SUMO4, PSORS1C1, PPT2-EGFL8, SLC30A8, UNC5D, RBM45, P2RX5-TAX1BP3, TGM2, DNAJC21, TRIM40, MUCL3, TGFB1, HORMAD2, NFE2L2, TRBV20OR9-2, CD28, DNAH2, TCF7L2, AQP4-AS1, ZFP36L1, BRAF, SFTA2, JAZF1-AS1, SKIV2L, POU5F1, CXCL12, HLA-DPA2, ZGLP1, ATXN2, DNAJC3, APOE, USP8P1, AP4B1-AS1, AKR1B1, ALB, AGT, RNF5, IRF1-AS1, HCG17, SRP54, C1orf141, COL11A2P1, ACAN, MUC21, LINC02649, LINC02694, BCL2, LINC00243, SLC5A1, TRIM26BP, PAX5, PDCD1, SLC16A2, SLC12A3, SLC5A2, LRRK2, GAB3, RMI2, VWA7, CYP21A2, GPSM3, TPO, CARD9, SIRPG-AS1, LY6G6E, CTLA4, EFL1, CSNK2B, COX1, ANKRD55, EHMT1, RNF39, COX3, LINC01250, HPSE2, CYP27B1, PSMB8-AS1, TTC7A, DPP4, MECP2, VEGFA, VDR, VARS2, ZMIZ1, C6orf47, TSBP1-AS1, LY6G5B, LY6G6D, IL21, EDA2R, ACE, LINC00993, SLC44A4, MST1, TRNE, INSM2, TRNS2, TRNS1, TRNQ, TRNL1, SGF29, TRNH, ANKRD30A, TRNF, CLCNKB, CLN3, ND6, NKD1, ND5, FKRP, PRRT1, ND4, OR5V1, OR12D3, LY6G5C, COL1A2, LY6G6C, ITCH, LINC01193, HLA-DOA, WFS1, SH2D1A, DPT, PON1, ST3GAL4, HT, SLC2A1, TLR4, SOD2, BGLAP, ICOS, PIK3CD, TNFRSF11B, CXCR3, IL4R, ERVK-18, TP53, TNFSF10, PTEN, ADA, PIK3CA, LPA, PIK3CG, PIK3CB, CD40, TIMP1, SOD1, CCL2, HSPA4, IDDM8, TLR2, IL7, SLC2A4, IL1RN, TXNIP, PTGS2, CD14, CCR2, ESR1, IL22, HIF1A, CTNNB1, GFAP, KIR2DS1, POMC, RENBP, FOXO1, TCF7, IDDM4, REG1A, DCN, OAS1, PPARG, CYBA, NLRP3, GC, KIR3DL2, TG, TNFSF11, CYP2R1, SERPINA1, LINC02605, ITGAM, C4B, GCGR, DEXI, KRT20, RCBTB1, SLC2A2, TLR3, AVP, CXCL8, SOX13, GOLGA6A, IL15, GDF5, IDDM13, HSP90AA1, MOK, SOST, MS4A1, IL23A, HSPD1, IDDM7, LCN2, CYP24A1, NUDT10, NLRP1, DMD, BEST1, SOCS1, MIR155, SLC14A1, MIR146A, TADA1, TNFRSF9, SNCA, CD80, MTHFR, NFKB1, RAPGEF5, SPP1, IRS1, FN1, LCK, CHRM3, PDLIM7, MBL3P, NPY, GZMB, LAD1, PTPRU, ACTB, SELE, HLA-DRB5, MIR21, HOTAIR, MAFD2, HSPA5, GSTM1, HLA-DRB4, TNFRSF1A, TNFRSF1B, HBA1, ADAMTS5, HLA-DRB3, TRPC6, IDDM6, IDDM3, WG, EGF, TXN, HLA-G, SLC25A3, IL12A, MIR222, MIR34A, THY1, FAS, FOXD3, HAVCR1, IL2RB, APCS, CSN2, HMGB1, GCLC, PTPRC, ACE2, GLO1, VTCN1, DBP, CREM, TJP1, TRAF6, TNFAIP3, FCRL3, CTSC, CHGA, CST3, CISH, COL9A3, CPE, MPO, SERPINE1, CAPSL, CD36, PLXNA2, PML, APC, ANXA1, ANPEP, AMD1P2, MAPK1, AMD1, S100B, ALOX15, C4B_2, RPL17, AHSG, RPL17-C18orf32, ADM, LOC102723407, PERCC1, MTCO2P12, PTH, SHBG, APP, MIR15A, STAT5B, CD34, CD86, TRB, CD19, NHS, HNF1B, CALD1, TBP, STAT5A, MIR126, C4A, TSPO, BTF3P11, BMP2, CXCR5, UCP2, BDNF, MIR125A, CIITA, HRAS, UMOD, HSPA14, SPATA2, IDO1, GDF15, MTOR, FOS, IRF1, IRF7, FOXM1, KL, CD163, TBX21, FCGR3B, NR1I2, HDAC3, KIR2DL2, IL18RAP, TNFRSF11A, ACAD8, IL9, PRPF31, IFNA2, HMOX1, HSPA1A, HPSE, PRSS16, HGF, IDDM11, IDDM15, DKK1, CBLIF, TAB2, GPX4, IGFBP1, IGFBP3, GPT, IGHG3, TPGS2, DLK1, IRF5, TRPV1, RETN, LRP5, IL17D, DPYD, MYDGF, EDNRA, ARNTL2, CELA1, LPL, MIR494, SIRT3, MIR375, USE1, NAMPT, FTO, XYLT1, IL18BP, SELP, GDE1, TNFAIP6, CD2AP, CCL5, ZAP70, MIR326, WDR11, DGCR2, NR1D2, ATP2C1, MIR210, SLC2A3, TSPAN7, TAF5L, CELA3A, CCL3, CCL4, MEPE, TNFSF13B, TRIB3, CXCR6, DEAF1, UPK3B, NFAT5, YAP1, TUBB4B, EBNA1BP2, PLAAT4, RBP4, LANCL1, TNFRSF4, MIR204, RGS1, CLIP2, LINC01672, SLC7A9, CLIP1, S100A12, RABEPK, DDX39A, YES1, SRL, NOD2, COBL, CHDH, HPGDS, MIR20A, NR4A3, ARMH1, SOCS3, PCSK9, SELENBP1, IL33, HFM1, TREM1, TAS2R13, CDK5R1, PROM1, TLR1, NRP1, IL18R1, TSPAN33, RASSF7, CDCA5, ADIPOR1, IDDM17, TGFBI, TP63, SLCO6A1, THBS1, CDR3, TLR8, ISYNA1, SIRT6, NOX4, CNDP1, TNFRSF13C, SOD3, TRBV20-1, TRBV16, MIR132, SLC22A3, SLC22A2, SLC22A4, TRBV7-9, MIR127, SOAT1, TRBC1, ZC3H12A, NCR1, SOX9, ZFP57, SLC19A3, CD101, TUG1, SPRR2A, UCP1, GSTK1, CCHCR1, SIAE, PLA2G7, MSC, IL32, ARHGEF2, ACKR3, H3P28, PTPN1, KLRD1, RUNX2, RUNX1, LBR, CD1D, RPSA, CD3E, CD4, CD27, ENTPD1, LRP1, CD59, KIR3DS1, FCGRT, KIR2DL3, KIR2DL1, KIF5A, KDR, JAK2, LPP, LRP6, CETP, MMP3, APOA1, NFKBIA, MYO9B, ATP4A, B2M, MNAT1, MMP13, MMP9, MMP1, MAP6, BCL2A1, BMP6, MIF, BTC, MEFV, CALCA, MCL1, CALCR, CDKN2A, ITGB7, P2RX7, GCHFR, HBA2, SARDH, DNTT, GPR183, EIF5A, ENG, ENPEP, GLA, ERN1, DHCR7, ESR2, EZH2, G6PC, FYN, GAST, FAT1, FBN1, FCGR3A, HCCS, DEFB1, CCR6, IFN1@, INPP5D, COL1A1, IL6R, IL3, IGH, IGFBP5, IGF1R, CSF2, IDE, HHEX, HSPG2, HSPA2, HSPA1B, HSD11B1, CYBB, CYP2E1, DDOST, DECR1, OXA1L, FCN2, PFKFB3, ADAM10, ACR, PROC, ALOX5, AMY2A, ACTN4, ALOX12, ADRB2, PPARA, ADORA1, PSMD7, AGTR2, AKT1, PCSK1, REG3A, PRKCSH, PRKCB, CUX1, SMOC1, UGDH-AS1, NQO1, CYP2D6, XYLT2, ADORA2A, DHPS, CYP7A1, CTSV, ROBO3, NSD1, CTSL, GORASP1, WDR13, DIAPH2, ERVK-6, GAS5, ADD1, KIR2DL5A, DES, GBA3, STIM2, ZNF410, CFAP97, DEFB4A, SEMA6A, ADD2, DEFA1, ADH5, ADCY3, AICDA, LGR6, LINC-ROR, DAXX, LOC102723971, CYP27A1, PLEKHA1, PLF, IPPK, CRK, CRYZ, FHOD3, AGA, PNPLA3, CRYGD, PDCD1LG2, CD276, CRYAB, AKT2, LINC00958, IL25, CREBBP, CR1, COL11A2, COL4A2, SPX, SETD7, COL2A1, TXNDC5, CNR1, KLRC4-KLRK1, POF1B, PIP4K2C, CSF3, PINK1, DLAT, ERVK-15, UBE2Z, PARP1, GGCT, CTSG, CTSB, ADRA1A, CTRL, OR5H5P, MUL1, ADIPOR2, CCN2, NLRX1, VCAN, ADRA2B, CSK, SUV39H2, WNK1, U2AF1L5, PELI1, PCBP4, F2R, F2, ARID4B, ADA2, RN7SL263P, ETS1, DUOX1, TLR9, ERRFI1, TREM2, ETFA, ESRRA, ABL1, APBB1IP, ESD, DDIT4, CST12P, ERG, LOC105379528, TET2, ERCC1, ABCA1, DINOL, F2RL1, PTK2B, TNDM1, FCGR1B, FCGR1A, FCER2, AAVS1, NDUFA13, ERVK-32, FASN, RMDN1, TUBE1, LARS1, ACSL1, CRBN, FABP2, TLR7, FABP1, KLRF1, CSAD, FABP4, NELFCD, TRPM7, ASPN, ELP6, TOR1A, CNDP2, CSGALNACT1, IL26, ADCY10, PAG1, SELENOS, S1PR1, LMO3, ANGPTL8, DSPP, SYBU, SLC26A3, SLC2A9, PANX2, DPYS, NMUR2, LOC102724971, DNAH8, PRDM10, IDDM18, EDN1, STAP2, CASZ1, QRSL1, SARS2, EPO, BANK1, EPHB4, SLC52A1, MTPAP, RMDN3, ACTG1, KIRREL1, ENO2, MIOX, GIMAP4, ACTG2, ELF3, ELAVL2, EIF4E, EFNA1, EEF2, IL17RB, PLXNA3, ABCC2, CCR8, FAM167A, LTB4R, LOC390714, BLK, BCR, TNFRSF17, MIR487A, MIR486-1, ANXA11, BCAT1, MIR432, BAK1, BAD, MIR202, MIR409, SCGB1D4, CIMT, MIRLET7G, BAAT, ATP7A, MIR130B, ATP6V1E1, MIR136, C1QTNF8, MAFA, POTEM, CA5A, MIR449B, STPG4, SLC9C1, RNF180, SLC25A20, CELIAC2, MMAB, C1QTNF9, DDR1, VWA2, RTL1, CA2, ACTBL2, VPS51, H3P44, C3, NCF1, BRS3, ANXA5, THEMIS, MIR141, MIR142, MIR143, AQP7, MIR27A, MIR29A, MIR30D, MIR31, AQP9, MIR34C, MIR93, MIR96, MIR17HG, AQP3, MIR221, PSG8, APRT, POTEKP, APOA4, OR14J1, ANXA13, MIR328, AOC2, MIR338, AR, MIR216A, MIR145, MIR15B, KIR2DL5B, MIR148A, MIR149, MIR424, MIR150, MIR152, MIR154, ATIC, ATF3, MIR17, ARG2, MIR192, MIR377, MIR193A, MIR195, MIR197, ATD, SERPINC1, MIR206, ARNTL, LYPD5, MIR573, GSDMA, CDK2, CEACAM5, CDX2, CD52, CDKN2B, DEFB4B, KIR3DL3, CDKN1B, APOA5, LEAP2, TAGAP, MIR3150A, CDH13, CDC25C, LRBA, ADAD1, CD74, MIR1225, TRAP, KIR2DS2, SOD2-OT1, ALDH3A2, IL17F, ALOX15B, RBM17, CDCA7, TARP, ASCC2, ZCCHC7, ALDH2, GPT2, CCR4, HAVCR2, ORAI1, ABCC11, PRRT2, CCR3, TSLP, CEACAM21, MCU, CCR1, CHAT, UBXN11, MFSD4B, PRDM6, FAM83H-AS1, CD48, MIR589, DEFA1B, ARID2, KRT8P3, CCNY, PI16, RNASEH1, POTEF, CAV2, NPB, CAV1, ANGPT2, CBR1, MIR640, COPD, SEC14L3, CASP8, CASP1, MIR625, LINC00641, NPW, PGP, SERPINA6, CCK, CD44, EFHB, TNFSF8, DOCK11, MIR885, TNFRSF8, CACUL1, MIR665, AMPD1, CD247, RMDN2, BTLA, CD1A, SLC2A12, CBLL2, SLC35G1, SLC5A8, CD3D, LINC00917, GIMAP7, ANGPT1, OIP5-AS1, CD63, IGHV3OR16-7, IL21R, TM7SF2, MNDA, MMP12, MMP10, TP53BP1, TRP-TGG3-1, TRPC3, MME, TSHR, TTC3, TTC4, TTR, KMT2A, MLH1, CXCL9, U2AF1, UBC, UBE2G1, UBE2I, SUMO1, MGAT5, MGAT1, UCP3, MFGE8, MPP1, MYO1B, KIR2DS4, CYTB, NGFR, NGF, NFKBIL1, TRA, NFKB2, TRG, TRGC1, TFRC, NFATC2, NF2, NEFL, NCAM1, MYD88, THBS2, MYC, MUC1, TIMP2, TIMP3, TRNT, TKT, MTRR, MTTP, NUDT1, MFAP4, VCAM1, MFAP1, MET, MADCAM1, LDHC, F8A1, AXIN2, LAIR1, PLA2G6, DOC2B, CUL4B, CUL4A, CILP, PIK3R3, LAG3, KRT18, KRT8, RNASET2, AOC3, KNG1, PDE5A, TNFRSF25, KLRC3, RIPK2, FADD, TNFRSF18, LEPR, KMT2D, PDHX, MAS1, VEGFC, VIL1, VIM, MAP3K1, MEF2A, WARS1, MDM4, XBP1, XDH, MC4R, NPHS2, LGALS1, ALMS1, SMAD7, MXD1, LIPC, LIF, AIMP2, LHCGR, LGALS3BP, CUBN, PROA, NM, NOTCH2, NOTCH3, SCG5, RXRB, S100A1, S100A8, MAPK8, MAPK7, SARS1, SAT1, MAPK3, SCD, SCO1, PRKCA, CCL3L1, PRKAB1, PRKAA2, CCL8, PRKAA1, PREP, CCL21, SDC2, PPBP, SEL1L, PPARD, POLE, PRL, RPS6KB1, HTRA1, OPN1LW, PSMD12, PSMD8, PVT1, RAC2, RAD51, PSMC6, RAG2, RARB, PSMB5, PSMA6, PSMA3, ROS1, REG1B, RELA, RELB, PSG7, PSG2, PSG1, RGS2, RIT2, RMRP, PRTN3, SRSF5, PLIN1, NOVA1, PLEK, PAEP, P4HB, SST, SSTR4, ORM1, OAS3, NTS, NTRK2, NRAS, STAT6, SULT1E1, STIM1, NPY2R, NPPC, SUV39H1, SYT1, TAC1, TAC3, ADAM17, NPPA, NPHS1, TAPBP, TAT, SPARC, SP3, SOX2, PF4V1, PMEL, PLG, PLAU, PKD1, PI3, PHB, ABCB1, SLC6A6, SERPINA3, CFP, PF4, PRKN, PER1, SERPINF1, PDR, ENPP1, SLC22A5, SUMO2, PDCD2, FSCN1, PCMT1, PAX6, KISS1, KAT2B, FGB, CXCL1, GRN, GRB10, GPX3, ANKS1A, ICOSLG, GPX1, ZDHHC17, SIRT5, FFAR2, GPR42, XCR1, CELA3B, GPI, DDAH2, PADI4, DDAH1, DDX58, GNB3, CA14, SNHG1, PPIL2, IL17RA, PANX1, NR3C1, MLC1, KCNQ1, PMPCA, BTN3A2, FAF1, HCRT, NUDT3, SLC2A6, POLG2, USP18, HARS1, ACOT7, IKZF3, H2AX, CARD8, KLRK1, MMRN1, SIRT2, GYS1, TPX2, GSTM2, GSR, GSN, MCF2L2, GSK3B, NCDN, QPCT, LMOD1, PART1, GLB1, DESI1, PTGER4, IGHV3-69-1, FYB1, TRBV2, TRAV29DV5, TRAJ60, TRAC, FPR3, FLVCR1, FPR2, FMR1, FOXO3, FOXF1, NENF, FGR, SLC2A8, FGF14, FGF3, CD209, FGF2, DUOX2, FGF1, PCSK1N, SLC37A4, PDCD4, GCKR, RNF19A, SOSTDC1, GORASP2, APPL1, POLDIP2, B4GALT1, NOC2L, GFER, MSTN, OR7E66P, GATA4, IL17B, GALNT3, UTP25, SND1, FOXP1, B3GAT1, B4GALNT1, DKK4, NAAA, IL37, IL17C, CIT, HFE, CFHR2, IL5, GRAP2, NTN1, ABCG2, INSRR, INPPL1, FHL5, CHST3, ATG5, STX8, ADAMTS4, ADAMTS3, ADAMTS1, GAL3ST1, IL15RA, SOCS5, CEP135, SART3, IL13RA1, IL12RB2, ELMO1, PUM3, ARHGAP25, MVP, IRAK1, NRXN1, ITGA2B, IVL, KCNJ3, KCNE1, APLN, SPHK1, HERC2, KCNC4, HSPB3, JUN, MAP3K14, JAK1, HGS, ITGA4, SCAF11, LPAR2, IL1RL1, XPR1, ITGB3, ITGB2, ITGB1, STK17B, ITGAX, ITGAL, IL12RB1, ABCB6, SDS, DNM1L, SLC19A2, AHSA1, SLCO1B1, HES1, IGF2BP2, HPRT1, HOXD8, HNRNPK, HNRNPF, HMGCS2, OGA, HLA-E, YME1L1, PHTF1, MASP2, NES, CCL27, HK2, LILRB1, HK1, PPARGC1A, NRG1, KCNQ1OT1, SLC35A1, HSD17B4, PRDX4, RAMP2, IGHM, TSPAN5, IGF2R, EBI3, ALYREF, IFNW1, IFNB1, OLIG2, KLRG1, IFNA17, ID3, BATF, SIGMAR1, ID2, IRF8, AKR1A1, TLR6, HTR1A, CEPT1, NOD1, HSPE1, UNC13B, NAT2

Anti-Aqp4 Disease Wikipedia

Early data suggested that then-practiced forms of HSCT were very effective only in the short term. [24] However later study data had most patients thriving, with no relapses within 5 years. [25] References [ edit ] ^ a b Wingerchuk DM, Banwell B, Bennett JL, Cabre P, Carroll W, Chitnis T, de Seze J, Fujihara K, Greenberg B, Jacob A, Jarius S, Lana-Peixoto M, Levy M, Simon JH, Tenembaum S, Traboulsee AL, Waters P, Wellik KE, Weinshenker BG (July 2015). "International consensus diagnostic criteria for neuromyelitis optica spectrum disorders" . ... PMID 16831964 . ^ Matiello M, Jacob A, Wingerchuk DM, Weinshenker BG (June 2007). "Neuromyelitis optica".

Ovarian Serous Cystadenoma Wikipedia

.; Kurman, RJ.; Wang, M.; Oldt, R.; Wang, BG.; Berman, DM.; Shih, IeM. (Jun 2004).

PIK3CA, TP53, BRAF, FBXW7, ERBB2, HRAS, PPP2R1A, NRAS, B2M, PIK3CB, VEGFA, PIK3CG, PIK3CD, AKT1, ABCB1, NOS2, CCN1, GSTM5, ESR1, YAP1, TMEM14A, LPAR1, MIR744, MIR940

Cardiofaciocutaneous Syndrome Wikipedia

. ^ Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease".

BRAF, MAP2K1, KRAS, MAP2K2, HRAS, PTPN11, NRAS, RAF1, SOS1, SHOC2, RRAS, A2ML1, MRAS, LZTR1, SOS2, RASA2, RIT1, RASA1, PPP1CB, EPHB2, MAPK1, MAP2K7, SGSM3, ZHX2, YWHAZ, CFC1, NPPC, KANSL1

Cardiofaciocutaneous Syndrome 1 OMIM

A number sign (#) is used with this entry because cardiofaciocutaneous syndrome-1 (CFC1) is caused by heterozygous mutation in the BRAF gene (164757) on chromosome 7q34. Description Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.
Cardiofaciocutaneous Syndrome GARD

Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome . These syndromes belong to a group of related conditions called the RASopathies , which are distinguished by their genetic causes and specific pattern of features. It can sometimes be hard to tell these conditions apart in infancy. CFC syndrome is usually caused by a mutation in the BRAF gene, but can also be due to a mutation in the MAP2K1 , MAP2K2 or KRAS g ene.
Cardiofaciocutaneous Syndrome GeneReviews

Summary Clinical characteristics. Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals. Diagnosis/testing. Diagnosis is based on clinical findings and molecular genetic testing.
Cardiofaciocutaneous Syndrome MedlinePlus

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect ), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features.
Cardiofaciocutaneous Syndrome 3 OMIM

A number sign (#) is used with this entry because of evidence that cardiofaciocutaneous syndrome-3 (CFC3) is caused by heterozygous mutation in the MAP2K1 gene (176872) on chromosome 15q22. For a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 (115150). Description Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008). Clinical Features Rodriguez-Viciana et al. (2006) reported 2 patients with CFC3.
Cardiofaciocutaneous Syndrome 2 OMIM

A number sign (#) is used with this entry because this form of cardiofaciocutaneous syndrome (CFC2) is caused by heterozygous mutation in the KRAS gene (190070) on chromosome 12p12.1. For a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 (115150). Description Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation. Clinical Features Wieczorek et al. (1997) described a female patient (patient 2) with cardiofaciocutaneous syndrome.
Cardiofaciocutaneous Syndrome 4 OMIM

A number sign (#) is used with this entry because of evidence that cardiofaciocutaneous syndrome-4 (CFC4) is caused by heterozygous mutation in the MAPK2K2 gene (601263) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 (115150). Description Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010). Clinical Features Rodriguez-Viciana et al. (2006) identified 1 patient with CFC4 among 23 CFC patients. The child had characteristic craniofacial features, ectodermal abnormalities, aortic valve defect and nonprogressive ventricular septal hypertrophy, short stature with growth hormone deficiency, scoliosis and pectus deformity, ocular abnormalities (nystagmus, strabismus, myopia, bilateral cataracts and optic nerve hypoplasia), cerebellar hypoplasia, prominence of the lateral ventricles, thinning of the corpus callosum, and moderate developmental delay.
Cardiofaciocutaneous Syndrome Orphanet

A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability. Epidemiology Around 300 cases have been published in the literature to date. Prevalence has been estimated at 1/810,000 people in Japan. However prevalence is believed to be higher. Clinical description Cardiofaciocutaneous (CFC) syndrome displays wide phenotypic variability. Polyhydramnios is often reported. Neonates present at birth with relative macrocephaly, short webbed neck and distinctive dysmorphic craniofacial features (i.e. coarse facial appearance, large forehead, low-set ears, ptosis, downslanting of eyes, epicanthal folds, short nose with depressed nasal bridge, prominent philtrum, high arched palate, thick lower lip).

Nonpuerperal Mastitis Wikipedia

PMID 20349659 . S2CID 25120670 . ^ Verghese BG, Ravikanth R (May 2012). "Breast abscess, an early indicator for diabetes mellitus in non-lactating women: a retrospective study from rural India".

Optic Nerve Sheath Meningioma Wikipedia

PMID 12738331 . ^ Landert M, Baumert BG, Bosch MM, Lütolf UM, Landau K (June 2005).

SST

Arcus Senilis Wikipedia

. ^ Christoffersen, M; Frikke-Schmidt, R; Schnohr, P; Jensen, GB; Nordestgaard, BG; Tybjærg-Hansen, A (15 September 2011).

APOA2, APOB, APOE, EPHX2, GHR, LDLR, ALDH18A1, PPP1R17, KERA, SLC29A3, CHRDL1, LCAT, HDL3

Galloway Mowat Syndrome Wikipedia

You can help by adding to it . ( July 2017 ) References [ edit ] ^ a b Cooperstone BG, Friedman A, Kaplan BS (Aug 1993).

WDR73, OSGEP, LAGE3, TPRKB, TP53RK, WDR4, NUP133, NUP107, ACTN4, ITGB1, LAMA5, LAMB2, ZNF592, YRDC, GON7

Galloway-Mowat Syndrome 1 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-1 (GAMOS1) is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. Description Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat Syndrome See also GAMOS2 (301006), caused by mutation in the LAGE3 gene (300060) on chromosome Xq28; GAMOS3 (617729), caused by mutation in the OSGEP gene (610107) on chromosome 14q11; GAMOS4 (617730), caused by mutation in the TP53RK gene (608679) on chromosome 20q13; GAMOS5 (617731), caused by mutation in the TPRKB gene (608680) on chromosome 2p13; GAMOS6 (618347), caused by mutation in the WDR4 gene (605924) on chromosome 21q22; GAMOS7 (618348), caused by mutation in the NUP107 gene (607617) on chromosome 12q15; and GAMOS8 (618349), caused by mutation in the NUP133 gene (607613) on chromosome 1q42.
Galloway-Mowat Syndrome 8 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-8 (GAMOS8) is caused by homozygous mutation in the NUP133 gene (607613) on chromosome 1q42. One such family has been reported. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18; 618177). Description Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Galloway-Mowat Syndrome 4 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-4 (GAMOS4) is caused by homozygous or compound heterozygous mutation in the TP53RK gene (608679) on chromosome 20q13. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
Galloway-Mowat Syndrome 3 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-3 (GAMOS3) is caused by homozygous or compound heterozygous mutation in the OSGEP gene (610107) on chromosome 14q11. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
Galloway-Mowat Syndrome 2, X-Linked OMIM

A number sign (#) is used with this entry because of evidence that X-linked Galloway-Mowat syndrome-2 (GAMOS2) is caused by hemizygous mutation in the LAGE3 gene (300060) on chromosome Xq28. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
Galloway-Mowat Syndrome 5 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-5 (GAMOS5) is caused by homozygous mutation in the TPRKB gene (608680) on chromosome 2p13. Description Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
Galloway-Mowat Syndrome Orphanet

A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Epidemiology More than 100 cases have been reported to date. Males and females are equally affected. Clinical description Disease onset is typically within the first few months of life, but may be detected in childhood with later onset nephrotic syndrome (NS). Clinical manifestations, primarily involving the kidney and central nervous system, are heterogeneous. Renal manifestations range from isolated proteinuria to full blown early-onset nephrotic syndrome (NS), which is multidrug resistant and rapidly progresses to end-stage kidney disease (ESKD).
Galloway-Mowat Syndrome GARD

Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome ; hiatal hernia ; optic atrophy ; movement disorders ; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present in each individual.
Galloway-Mowat Syndrome 6 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-6 (GAMOS6) is caused by homozygous or compound heterozygous mutation in the WDR4 gene (605924) on chromosome 21q22. Description Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).
Galloway-Mowat Syndrome 7 OMIM

A number sign (#) is used with this entry because of evidence that Galloway-Mowat syndrome-7 (GAMOS7) is caused by homozygous or compound heterozygous mutation in the NUP107 gene (607617) on chromosome 12q15. Biallelic mutation in the NUP107 gene can also cause nephrotic syndrome type 11 (NPHS11; 616730). Description Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). Clinical Features Rosti et al. (2017) reported 5 patients from 2 unrelated consanguineous families, one of which was of Turkish descent, with a nephrotic syndrome similar to Galloway-Mowat syndrome.

Chediak-Higashi Syndrome OMIM

Other Features Penner and Prieur (1987) found close morphologic similarities of the CHS fibroblasts from humans, cats, mink, and cattle. Mice homozygous for the 'beige' (bg) gene have a selective deficiency of NK (natural killer) lymphocytes and an increased susceptibility to transplanted tumors. ... Perou et al. (1997) showed that the mutation in the bg allele is the result of a LINE-1 (see 151626) retrotransposition.

LYST, VPS13B, AP3B1, ACTB, CYCS, TYR, TYRP1, RAB7A, RAB9A, VPS39, PIK3R4, FSD1, NBEAL1, TLR2, FSD1L, SYTL3, RAB7B, MIR25, MIR96, MIR525, TLR4, TFF1, ADAM8, IDH1, ANXA5, BMP1, CHM, CTLA4, FGL1, HLCS, HPS1, IDH2, TRBV20OR9-2, LAMP1, LTC4S, MPO, OCA2, PRKAA1, PRKAA2, PRKAB1, MIR622

Chediak-Higashi Syndrome GeneReviews

Summary Clinical characteristics. Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood. Diagnosis/testing. The diagnosis of CHS is established in a proband with giant inclusions within leukocytes on peripheral blood smear and/or by the identification of biallelic pathogenic variants in LYST on molecular genetic testing. Management. Treatment of manifestations: Initial chemoimmunotherapy followed by transition to continuation therapy for the accelerated phase; allogenic HSCT as soon as possible to cure hematologic and immunologic defects; L-dopa may be considered for those with parkinsonism; home modifications and intensive rehabilitation for those with ataxia and other neurologic complications; corrective lenses to improve visual acuity; sunglasses to protect sensitive eyes from UV light; sunscreen to prevent sun damage and skin cancer.
Chédiak-Higashi Syndrome Orphanet

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described. Epidemiology Exact prevalence is difficult to determine; fewer than 500 cases have been reported. Many patients likely remain undiagnosed because of variability in clinical signs. No gender or ethnic predilection has been found. Clinical description Patients with CHS mostly have partial OCA involving the hair, skin, and eyes.
Chediak-Higashi Syndrome MedlinePlus

Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening. Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair , often with a metallic sheen.
Chédiak–higashi Syndrome Wikipedia

This article's lead section may be too short to adequately summarize its key points . Please consider expanding the lead to provide an accessible overview of all important aspects of the article. ( December 2016 ) Béguez-Chédiak–Higashi syndrome Béguez-Chédiak–Higashi syndrome is inherited in an autosomal recessive manner Specialty Endocrinology Béguez-Chédiak–Higashi syndrome [1] ( CHS ) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis . The decrease in phagocytosis results in recurrent pyogenic infections, albinism , and peripheral neuropathy . In Béguez–Higashi syndrome, the lysosomal trafficking regulator ( LYST ) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells . [3] This results in defective white blood cell function with enlarged vesicles . This syndrome also leads to neutropenia and phagocyte bactericidal dysfunction due to impaired chemotaxis . [4] Deficiency in serotonin and adenosine-phosphate-containing granules in platelets causes impaired platelet aggregation, leading to prolonged bleeding time.
Chediak-Higashi Syndrome GARD

Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism , blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can become life-threatening. It is caused by mutations in the LYST gene and is inherited in an autosomal recessive fashion.