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Hidradenitis Suppurativa Wikipedia

This theory includes most of the following potential indicators: [7] Post-pubescent individuals [8] Blocked hair follicles or blocked apocrine sweat glands Excessive sweating Androgen dysfunction Genetic disorders that alter cell structure Patients with more advanced cases may find exercise intolerably painful, which may increase the rate of obesity among sufferers. The historical understanding of the disease suggests dysfunctional apocrine glands [9] or dysfunctional hair follicles, [10] possibly triggered by a blocked gland, which creates inflammation , pain , and a swollen lesion .

NCSTN, PSENEN, NLRP3, MEFV, NOD2, PSTPIP1, GJB2, PSEN1, IL17A, TNF, HYOU1, KDF1, IL1B, IL1A, IFNG, CRP, IL23A, IL10, IL22, CXCL8, PAPPA, IL6, IL20, GLI3, IL36RN, IL17B, DCD, IL37, IL13, AGO1, YME1L1, ADIPOQ, IL32, ACAD8, ADM, SND1, AGO2, C5AR2, SULT1B1, KRT20, IL26, RETN, ELOVL7, IL1F10, MTDH, RBM45, TET3, IL1RL2, SAA1, TLR4, IFNA1, BCL2, CAMP, MS4A1, CD27, CHI3L1, CTNNB1, CTNND1, EPHB2, ERBB4, HLA-A, HLA-DRB1, IDH1, IDH2, IDH3B, IFNA13, TIE1, IL12RB1, ITGAL, ITGB2, KLRB1, LCN2, CYP4F3, NHS, P2RX7, PDE4A, ANXA5, SAA2, SULT1E1, TARBP2, TGFB1, MIR21
- Hidradenitis Suppurativa Mayo Clinic
  
  Overview Hidradenitis suppurativa (hi-drad-uh-NIE-tis sup-yoo-ruh-TIE-vuh), also known as acne inversa, is a condition that causes small, painful lumps to form under the skin. The lumps usually develop in areas where your skin rubs together, such as the armpits, groin, buttocks and breasts. The lumps heal slowly, recur, and can lead to tunnels under the skin and scarring. Hidradenitis suppurativa tends to start after puberty, usually before age 40. It can persist for many years and worsen over time. It can affect your daily life and emotional well-being.
Mood Disorder Wikipedia

These characteristics would be difficult to understand if depression were a dysfunction. [70] A depressed mood is a predictable response to certain types of life occurrences, such as loss of status, divorce, or death of a child or spouse. ... CS1 maint: archived copy as title ( link ) ^ a b Pieczenik, Steve R, Neustadt, John (2007). "Mitochondrial dysfunction and molecular pathways of disease". ... PMID 17239370 . ^ "Mitochondrial dysfunction and bipolar disorder" . 29 September 2017. ... Retrieved 1 October 2017 . Mitochondrial dysfunction and bipolar disorder ^ Scainiab, Giselli, Rezinc, Gislaine, Carvalhod, Andre, Streckb, Emilio L, Berkef, Michael, Quevedo, João (2016). "Mitochondrial dysfunction in bipolar disorder: Evidence, pathophysiology and translational implications".

SLC6A4, NR3C1, POLG, ADCY8, DRD2, NCAM1, CREB1, COMT, BDNF, HTR2A, CRH, CLOCK, DISC1, MAOA, TH, HTR1A, FKBP5, P2RX7, DRD4, TPH1, CACNA1C, TPH2, WFS1, NPY, GSK3B, TNF, TAC1, CRHR1, HTR2C, NTRK2, GPR50, ESR1, OPRK1, PRL, DBH, ABO, HP, GABRA1, SLC6A3, SIRT2, MTHFR, DLG4, GRIN2A, DTNBP1, PDYN, AKT1, DRD3, PROKR2, MCHR1, HTR5A, AVPR1B, GNB3, ZNF804A, FGF2, DAOA, S100B, RELN, MAOB, FMR1, GAL, HCRTR1, NTF3, DLG3, IMPA2, GRM3, GRM2, GAD1, GRIK2, MAP2, GAD2, PROK2, HTR3A, FAAH, IL1RN, DISC2, HTR6, CYP2D6, TACR1, SLC6A2, ARNTL, SMS, CRHBP, PLA2G1B, TIMELESS, SERPINA1, ATP2A2, CRHR2, AR, GABRB2, GABRA6, GABRA5, CRTC1, SLC12A5, MAGEL2, SIGMAR1, RARA, VPS13A, ADRA2A, VIP, GABRD, SIRT1, VGF, SAT1, FEV, ANK3, HTR4, SLC1A2, TSNAX, VEGFA, TSNAX-DISC1, SLC5A7, HES6, GPRC5D, HPGDS, ADRB1, GCH1, ARRB2, TSPAN8, IL9R, SPR, FZD3, HCN4, CRYZ, TBX1, NTSR1, DAO, HIF1A, TGFB1, NTRK3, TGOLN2, NQO1, PAWR, NPY2R, HSPA4, DNMT1, DNMT3B, EDN1, PNOC, HTR1B, ADORA2A, ADCY7, MYO5B, PFKL, SST, RNPS1, CHRM2, CHRM3, ABCG1, FTO, SSTR3, SERTAD1, HSP90AA1, OXT, HTR7, NFKB1, TBC1D25, NTS, HDAC4, RGS6, TNFSF13B, PFKFB3, ERDA1, BSCL2, KAT2B, PMCH, PPARG, PRNP, LDHA, S100A10, KCNK9, PTGS2, HDAC2, SMOX, GAP43, FOSB, DUSP6, GLUL, DCTN1, CACNA1D, AMBP, HDAC1, ADRA2C, ADRA1B, ADCY3, HTT, KCTD12, HCN1, LINC02210-CRHR1, ERBB4, PDE4B, NEGR1, DCLK2, LINC01618, CDH8, MAD1L1, DPY19L3, PHF2, AREL1, EGFLAM, KLHL29, PAFAH1B1, CSE1L, RABGAP1L, SPSB4, NR1H3, CSTF3, NAV3, DAG1, BAIAP2, DGKG, KLHDC8B, WNT3, SSPN, SLC44A5, TCF4, LINC02040, GNG12-AS1, NCAM1-AS1, C6orf99, APBB2, UBA7, MAPT-AS1, RERE, LINC00461, SMIM4, RAPSN, RAB27B, C5orf17, PTPRD, PTH2R, VWC2L, VRK2, LINC01122, FAM228B, EYS, KANSL1, MYO1H, DCC, CREB3L1, ATAD2B, MAPT, EXD2, C11orf49, TNC, SOX6, PPP4R3A, NCOA5, ARHGAP15, YLPM1, CELF4, SORCS3, ZHX3, LMOD1, FSTL4, PLCL2, DPP10, KAZN, BBX, CAMTA1, NUP160, GPM6A, PBRM1, FYB1, TTC12, DDB2, LINGO1, ATP5MD, DELEC1, ARPP21, ARFGAP2, BICRA, KIAA1109, PRR16, NLK, TFAP2D, EMCN, CSNK1G1, IGLV10-54, BHLHE41, TMEM106B, ADAMTS6, BAZ1A, RBFOX1, GABBR1, PON1, ACE, IL6, PER3, CRP, IL1B, IGFBP2, LOC110806262, STIN2-VNTR, EPO, IL10, REM1, NR3C2, APOE, C1QL1, KL, TMED2, TPO, TPPP, P2RX5-TAX1BP3, TEMPS, BICC1, PPP1R9B, OPN4, CHP1, NLRP3, MAFD6, YWHAZ, NRSN1, HOMER1, MAFD4, PLB1, P2RX6, DGKH, P2RX2, FXR1, SMC2, H3P19, P2RX3, DST, PIK3CD, PIK3CB, PIK3CA, CD9, CNR1, P2RY2, P2RY1, P2RX5, P2RX4, CRY2, P2RX1, CTNNB1, DNASE1L3, DRD1, NOS1, MAFD2, MAFD1, FKBP4, GLP1R, GPER1, GRIK4, GRIN2B, HCRT, PIK3CG, GRM7, AVP, ADARB1, PVALB, MIR18A, EIF4EBP1, GABPA, FTL, FOS, FOXO3, ADCY9, PINK1, UBE2Z, FGF9, DMTN, MAPKAP1, LIN28A, SLC17A6, ADRA1A, ADRA2B, AGMAT, CAMKMT, RABEP2, EGF, PPP1R2C, PNPLA3, ZNF34, ADRB2, EDNRA, NDRG2, GABRA3, ACKR3, GLI2, LINC02605, GRM5, ACTB, GRIA3, GRIA1, PPP1R12C, GPR42, RN7SL263P, ADCY1, GLO1, GHSR, AP2B1, PLXNA3, GFAP, ATF7IP, CNDP2, GDNF, USE1, LMO3, GPRC5C, GCHFR, GCG, TMPRSS13, DPYD, PPP1R1B, CECR, CD44, KRIT1, CCKAR, CCK, CRTC2, CAT, OPN1SW, MDD1, MIR17HG, C9orf72, CALR, CALM3, IS1, CALM2, DAOA-AS1, CALM1, CALCA, TAAR6, NANOS3, MCIDAS, TSPO, BRS3, BRCA1, CDSN, OSR1, BPI, CHGB, APLNR, DMD, DLX4, DDC, SHANK3, RGS8, LMLN, CYP19A1, WASHC1, CSNK1E, ANGPT1, CSF2, PDIA3, CAMK2N2, SLC25A4, APOH, STS, CRY1, WASH6P, CREBBP, CP, ATP5F1A, BDNF-AS, SYN2, VSX1, GSTM1, ORM1, PLCB4, PLA2G4A, ST8SIA2, PITX2, ELP1, CCN6, PIK3R2, APLN, PIK3R1, ARHGEF7, CBFA2T2, LPAR2, HTR3B, ABCB1, ADIPOQ, ABCG2, EIF2AK3, PGM1, GDF15, NR1D1, PGD, PAX6, SEC24C, HDAC9, KEAP1, CCS, HDAC6, FOSL1, RASSF7, POU3F1, SLC18A2, SULT2A1, STAR, SSTR5, TDGF1P3, TFRC, SSTR4, SSB, THBS3, SOD2, TM7SF2, SOD1, SOAT1, TRPM2, PTPA, SEMG1, TTN, TYR, CCL11, CCL2, S100A12, VIPR2, PTGS1, VTN, PSMB6, PRKCZ, YY1, TOM1, TUBA1B, GSTT1, RAPGEF3, INSRR, PPP1R13B, IL7, SIRT3, IL4, IL2, IGHG1, ATP2C1, AGO2, IFNG, IFNA13, PCDH17, IFNA1, PCLO, DLL1, HTR1F, IGLV3-25, HSD11B2, SETD2, HRAS, HPX, SLC40A1, VAMP7, HPD, HLA-C, CRYL1, HINT1, ITGA2B, ITIH1, PLCB1, NGF, NUP98, DEAF1, NTRK1, PDLIM5, NRAS, CXCR6, NPAS2, NRG3, NOTCH4, NOS3, PPARGC1A, UTS2, METAP2, ITIH3, RAPGEF4, NFE2L2, MST1, MSMB, MAS1, LTBP3, IGSF9B, LEP, LBP, TBC1D9, STAB1, LAMC2, ABAT
- Mood Disorders Mayo Clinic
  
  Overview If you have a mood disorder, your general emotional state or mood is distorted or inconsistent with your circumstances and interferes with your ability to function. You may be extremely sad, empty or irritable (depressed), or you may have periods of depression alternating with being excessively happy (mania). Anxiety disorders can also affect your mood and often occur along with depression. Mood disorders may increase your risk of suicide. Some examples of mood disorders include: Major depressive disorder — prolonged and persistent periods of extreme sadness Bipolar disorder — also called manic depression or bipolar affective disorder, depression that includes alternating times of depression and mania Seasonal affective disorder (SAD) — a form of depression most often associated with fewer hours of daylight in the far northern and southern latitudes from late fall to early spring Cyclothymic disorder — a disorder that causes emotional ups and downs that are less extreme than bipolar disorder Premenstrual dysphoric disorder — mood changes and irritability that occur during the premenstrual phase of a woman's cycle and go away with the onset of menses Persistent depressive disorder (dysthymia) — a long-term (chronic) form of depression Disruptive mood dysregulation disorder — a disorder of chronic, severe and persistent irritability in children that often includes frequent temper outbursts that are inconsistent with the child's developmental age Depression related to medical illness — a persistent depressed mood and a significant loss of pleasure in most or all activities that's directly related to the physical effects of another medical condition Depression induced by substance use or medication — depression symptoms that develop during or soon after substance use or withdrawal or after exposure to a medication For most people, mood disorders can be successfully treated with medications and talk therapy (psychotherapy). When to see a doctor If you're concerned that you may have a mood disorder, make an appointment to see your doctor or a mental health professional as soon as you can.
Spinocerebellar Ataxia Type 36 GeneReviews

The diagnosis is suspected based on clinical findings in the absence of primary causes of cerebellar dysfunction. It is supported by a family history consistent with autosomal dominant inheritance, which can include simplex cases (i.e., a single occurrence in a family). ... However, in advanced disease the voice acquires a mixed quality with associated bulbar and/or pseudobulbar dysfunction. Appendicular cerebellar signs are also present in virtually all patients, manifesting as dysmetria and dysdiadochokinesis. ... Examination by an otolaryngologist and audiologist, with emphasis in a comprehensive characterization of degree and anatomic level of hearing dysfunction. Clinical genetics consultation and genetic counseling Additional brain MRI is not necessary following the diagnosis of SCA36; however, it can be used for complementary follow-up evaluation.

NOP56, SUPT4H1, ATXN10, C9orf72
- Spinocerebellar Ataxia Type 36 MedlinePlus
  
  Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands.
- Spinocerebellar Ataxia 36 OMIM
  
  A number sign (#) is used with this entry because spinocerebellar ataxia-36 (SCA36) is caused by heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene (614154) on chromosome 20p13. Unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats (Kobayashi et al., 2011 and Garcia-Murias et al., 2012). Description SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
- Spinocerebellar Ataxia Type 36 Orphanet
  
  An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. Epidemiology Spinocerebellar ataxia type 36 (SCA36) prevalence is unknown. SCA36 has been described in more than 100 families in Asia (Japan and China) and Europe (France, Italy, Poland, and Spain-Galicia). In a US population, SCA36 accounts for 0.7% of disease in a large undiagnosed ataxia cohort. Clinical description SCA36 presents in adulthood with ataxic dysarthria, truncal ataxia, limb ataxia, general hyperreflexia and variably occurring lower limb spasticity.
Hypoalphalipoproteinemia, Primary, 2 OMIM

Description Primary hypoalphalipoproteinemia-2 characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C), is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018).
Myopathy Due To Myoadenylate Deaminase Deficiency OMIM

The findings suggested that disruption of the purine nucleotide cycle due to myoadenylate deaminase deficiency can result in marked alterations in ATP content of muscle, and that the changes could account for muscle dysfunction. Shumate et al. (1980) reported an 18-month-old girl referred for delayed motor and speech development.

AMPD1, AMPD3, APRT, MFAP1
- Adenosine Monophosphate Deaminase 1 Deficiency GARD
  
  Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations) in the AMPD1 gene and is inherited in an autosomal recessive manner. Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).
- Erythrocyte Amp Deaminase Deficiency OMIM
  
  A number sign (#) is used with this entry because complete erythrocyte AMP deaminase deficiency is caused by homozygous mutation in the AMPD3 gene (102772) on chromosome 11p15. Description Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989). Clinical Features Ogasawara et al. (1987) observed 6 related individuals with complete deficiency of erythrocyte AMP deaminase (isozyme E). All were healthy and had no hematologic disorders. The ATP level was approximately 150% higher in AMP-deficient red cells compared to the level in the control cells. Degradation of adenine nucleotide was slower in the deficient erythrocytes than in the control erythrocytes.
Cranioectodermal Dysplasia 2 OMIM

Gilissen et al. (2010) postulated that the WDR35 mutations resulted in ciliary dysfunction due to disrupted intraflagellar transport.

IFT122, WDR35, WDR19, IFT43, IFT52, TGFB1, ATD, DPH1, TULP4, SPAG17
- Cranioectodermal Dysplasia 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that cranioectodermal dysplasia-4 (CED4) is caused by compound heterozygous mutation in the WDR19 gene (608151) on chromosome 4p14. One such family has been reported. Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330). Clinical Features Bredrup et al. (2011) described a 21-year-old Norwegian woman who was the second child of unrelated, healthy parents.
- Cranioectodermal Dysplasia 1 OMIM
  
  A number sign (#) is used with this entry because cranioectodermal dysplasia-1 (CED1) is caused by homozygous or compound heterozygous mutation in the IFT122 gene (606045) on chromosome 3q21. Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). Genetic Heterogeneity of Cranioectodermal Dysplasia Also see CED2 (613610), caused by mutation in the WDR35 gene (613602) on chromosome 2p24; CED3 (614099), caused by mutation in the IFT43 gene (614068) on chromosome 14q24; and CED4 (614378), caused by mutation in the WDR19 gene (608151) on chromosome 4p14. In a review, Lin et al. (2013) found that of 14 of 39 patients with Sensenbrenner syndrome who had a molecular diagnosis, 6 (43%) had mutations in WDR35, 4 in IFT122, 2 in WDR19, and 2 in IFT43. Clinical Features Levin et al. (1977) described 5 children with dolichocephaly (with sagittal suture synostosis in 3), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, brachydactyly, and narrow thorax.
- Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly OMIM
  
  A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-16 with or without polydactyly (SRTD16) is caused by homozygous or compound heterozygous mutation in the IFT52 gene (617094) on chromosome 20q13. Description Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia.
- Cranioectodermal Dysplasia GeneReviews
  
  Summary Clinical characteristics. Cranioectodermal dysplasia (CED), a ciliopathy also known as Sensenbrenner syndrome, is a multisystem disorder with skeletal involvement (narrow thorax, shortened proximal limbs, and brachydactyly), ectodermal features (widely-spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth retardation, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus/epicanthus, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage renal disease (ESRD) in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy, other manifestations of ciliopathies, are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur. Diagnosis/testing.
- Cranioectodermal Dysplasia MedlinePlus
  
  Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing ) and an elongated head (dolichocephaly ) due to abnormal fusion of certain skull bones (sagittal craniosynostosis).
- Cranioectodermal Dysplasia Orphanet
  
  Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). Epidemiology To date, 20 cases have been reported in the literature. Clinical description CED is primarily characterized by an abnormal development of bones (i.e. craniosynostosis/dolichocephaly, narrow thorax, pectus excavatum , rhizomelic micromelia, brachydactyly, syndactyly, clinodactyly, hyperextensible joints), and ectodermal defects such as dental anomalies (reduced enamel thickness, hypodontia, microdontia, taurodontism, malformations of the cusps), sparse hair, and abnormal finger and toe nails. Dysmorphic features are observed such as epicanthic folds, hypotelorism, anteverted nares, and everted lower lip. Patients frequently develop chronic renal failure due to nephronophthisis, usually between the ages of 2 and 6. Liver involvement (hepatic fibrosis) can also be observed. Recurrent lung infections, heart defects and ocular anomalies (nystagmus, myopia, retinal dystrophy, and particularly retinitis pigmentosa) are also possible in the course of the disease.
- Cranioectodermal Dysplasia 3 OMIM
  
  A number sign (#) is used with this entry because cranioectodermal dysplasia-3 (CED3) is caused by homozygous mutation in the IFT43 gene (614068) on chromosome 14q24. One such family has been reported. Description Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330). Clinical Features Arts et al. (2011) reported a sister and brother from a consanguineous family of Moroccan descent with cranioectodermal dysplasia.
Congenital Disorder Of Glycosylation, Type Ie OMIM

Subsequently, the patient showed delayed psychomotor development with lack of speech, recurrence of seizures, feeding difficulties, and evidence of liver dysfunction with low levels of coagulation proteins.

DPM1, ADNP-AS1, PMM2, ALG12
- Dpm1-Cdg Orphanet
  
  The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. Epidemiology The syndrome has been described in seven children. Etiology It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
Orotic Aciduria OMIM

INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive (in some patients) CARDIOVASCULAR Heart - Atrial septal defect (in 1 patient) - Ventricular septal defect (in 1 patient) GENITOURINARY - Orotic acid urinary obstruction NEUROLOGIC Central Nervous System - Developmental delay (in some patients) METABOLIC FEATURES - Orotic aciduria HEMATOLOGY - Megaloblastic anemia - Low to normal reticulocyte count - Anisocytosis - Poikilocytosis - Hypochromia - Platelet count normal IMMUNOLOGY - T-cell dysfunction, variable (in some patients) LABORATORY ABNORMALITIES - Orotic aciduria - Orotic acid crystalluria - Hematuria MOLECULAR BASIS - Caused by mutation in the uridine monophosphate synthetase gene (UMPS, 613891.0001 ) ▲ Close

UMPS
- Hereditary Orotic Aciduria Orphanet
  
  A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.
- Orotic Aciduria Wikipedia
  
  Orotic aciduria Other names Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase (UMPS) deficiency [1] Structure of orotic acid Specialty Hematology Symptoms Megaloblastic anemia; developmental delays Causes Autosomal recessive mutation of the UMPS gene Differential diagnosis Mitochondrial disorders; Lysinuric protein intolerance ; liver disease [1] Treatment Uridine triacetate Orotic aciduria (AKA hereditary orotic aciduria ) is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines . It is the only known enzyme deficiency of the de novo pyrimidine synthesis pathway . [2] Orotic aciduria is characterized by excessive excretion of orotic acid in urine because of the inability to convert orotic acid to UMP . [3] [1] It causes megaloblastic anemia and may be associated with mental and physical developmental delays. Contents 1 Signs and symptoms 2 Cause and genetics 3 Diagnosis 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] Patients typically present with excessive orotic acid in the urine, failure to thrive, developmental delay, and megaloblastic anemia which cannot be cured by administration of vitamin B12 or folic acid . [3] [2] Cause and genetics [ edit ] Orotic aciduria has an autosomal recessive mode of inheritance. This autosomal recessive disorder is caused by a deficiency in the enzyme UMPS , [4] a bifunctional protein that includes the enzyme activities of OPRT and ODC . [5] In one study of three patients, UMPS activity ranged from 2-7% of normal levels. [2] Two types of orotic aciduria have been reported. Type I has a severe deficiency of both activities of UMP synthase. In Type II orotic aciduria, the ODC activity is deficient while OPRT activity is elevated.
Cone-Rod Dystrophy 6 OMIM

Perrault et al. (1998) studied a family in which 6 members over 3 generations exhibited early cone dysfunction in the first decade of life, characterized by decreased vision acuity, severe color dyschromatopsia, and photophobia.

GUCY2D, GNAT2, BEST1
Cleft Palate With Or Without Ankyloglossia, X-Linked OMIM

The proband had a submucous cleft palate, ankyloglossia, speech and language delay, and left-sided eustachian tube dysfunction. His carrier mother had ankyloglossia, which was widely present in the extended family; affected males in the family also had submucous or soft palate cleft.

TBX22, CPOX, EBP, IRF6, PGK1, NECTIN1, SUMO1, CPXCR1, KLHL4
- X-Linked Cleft Palate And Ankyloglossia Orphanet
  
  X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
Papillon-Lefevre Syndrome OMIM

They found several other reports of this association and concluded that liver abscess is an important complication of neutrophil dysfunction in PLS. Toomes et al. (1999) summarized the clinical features of Papillon-Lefevre syndrome.

CTSC, ABO, IGFALS, SOD1, SPG7, TP53, FIG4, CCL3L3, C9orf72, ALS2, CASZ1, TBK1, ERLIN2, FASTK, SLC35A1, GAL3ST1, DPYS, ELANE, SPAST, CAMP, CCL3L1, CCL3, PLS1, CXCL10, IL2, DDIT3, HLA-DRB1, GZMB, CST12P
- Papillon–lefèvre Syndrome Wikipedia
  
  Papillon-Lefevre syndrome Other names Palmoplantar keratoderma with periodontitis Papillon–Lefèvre syndrome has an autosomal recessive pattern of inheritance . Specialty Dermatology , medical genetics Papillon–Lefèvre syndrome ( PLS ), also known as palmoplantar keratoderma with periodontitis , [1] [2] is an autosomal recessive [3] genetic disorder caused by a deficiency in cathepsin C . [4] [5] Contents 1 Presentation 2 Cause 3 Diagnosis 4 Treatment 5 Eponym 6 See also 7 References 8 External links Presentation [ edit ] PLS is characterized by periodontitis and palmoplantar keratoderma . [6] The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14. Hyperkeratosis of palms and soles of feet appear in first few years of life. Destructions of periodontium follows almost immediately after the eruption of last molar tooth. The teeth are involved in roughly the same order in which they erupt.
- Papillon-Lefèvre Syndrome Orphanet
  
  Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. Epidemiology The prevalence is estimated between 1/250,000 and 1/1,000,000 individuals. The male to female ratio is 1:1. PLS is found in all ethnic groups. Clinical description Diffuse palmoplantar keratoderma (see this term) with erythematous plaques develops between the first and fourth years of life, with the soles being usually more severely affected than the palms. Psoriasiform hyperkeratosis can overflow onto the dorsal surfaces of the hands and feet (transgredient spread) and, less frequently, lesions can be seen on the limbs (knees, elbows). Skin lesions are followed by intense gingivitis that rapidly progresses into periodontitis with alveolar bone lysis and early loss of primary dentition.
Thrombocythemia 1 OMIM

Platelets from 2 of these patients showed dysfunction, including failure to aggregate or release serotonin in response to concentrations of epinephrine that aggregated platelets of normal controls.

JAK2, CALR, SH2B3, MPL, THPO, IFNA2, TET2, TP53, TGFB1, PDGFA, FGF2, PDGFB, MYB, BCR, ABL1, CD34, CD177, ASXL1, PRB1, SOAT1, EPO, IFNA13, IFNA1, STAT5A, IDH2, STAT5B, VEGFA, LINC01152, AR, SRSF2, GATA1, F5, F2, SELP, IDH1, STAT3, DERL1, NFE2, IL6, SOCS3, BCL2, F3, HPSE, STAT1, CXCL8, TFPI, ITGAM, ITGB3, SF3B1, KIT, PTX3, LCN2, MDM2, PGF, SELE, MMP9, TERT, MVD, MYC, NOS3, SOCS1, HMGA2, HBS1L, RN7SL263P, FLI1, CSF2, CBL, EPOR, CD63, CTNNB1, G6PD, EVPL, EZH2, BAX, CRP, CSF3R, LRPPRC, PIAS3, WDR4, HLA-B, BAK1, CHEK2, CCND1, DAAM1, MTUS2, ARSA, DKK1, HDAC9, HDAC6, NAAA, TLR4, BNIP3L, U2AF1, UCP2, BID, CXCR4, LAP, BDNF, SLC14A2, CNTNAP1, BCL2L2, DLK1, SOCS2, BCL2L1, USP14, MYOM2, GDF15, DKK3, RABGEF1, IL37, MIR146B, CYGB, ANXA5, MIR125A, MIR143, MIR203A, MIR221, MIR490, GGTLC5P, THBS1, GGTLC3, GGT2, GGTLC4P, BCL2L2-PABPN1, MIR4639, AK6, AKT1, NLRP3, MLIP, HAVCR2, PRAM1, SETD2, IL22, PTOV1, TERF2IP, ARG2, BCOR, FASLG, MTUS1, HAMP, ACE2, APOA1, HDAC11, FIP1L1, QTRT1, SESN2, CALB2, CD69, CASP9, RUNX1T1, ITGB2, FLT1, JAK1, FLII, FCGR2A, LDHA, LDHC, LGALS3, LIG3, SMAD4, MCAM, FANCB, MFGE8, ATXN3, MMP2, ITGA2B, IL10, CXCR2, IFNG, HIF1A, HFE, IFI27, SERPIND1, H2AX, CXCL1, IGF1, CXCR1, IGF2, IGH, IL3, NR3C1, IL6ST, GGT1, COX1, MTHFR, ERCC2, SELENOP, S100A9, S100A12, ACSM3, CXCL12, CHIT1, CHI3L1, AKR1C4, REN, SLC14A1, CDR1, SPP1, CDH13, HSPA4, CD14, S100A8, RARS1, EDN1, SERPINE1, NFATC2, ACE, ADM, NRAS, NTRK1, PAEP, PCNA, RAP1A, PDGFRA, CPB1, PROC, PROS1, PTGS1, CISH, NM
- Essential Thrombocythemia GARD
  
  Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms , which cause the bone marrow to make too many platelets, white blood cells and/or red blood cells. In essential thrombocythemia, the body produces too many platelets. The signs and symptoms vary from person to person, but most people with essential thrombocythemia do not have any symptoms when the platelet cell count first increases. Signs and symptoms that develop as the disease progresses include: increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets); enlargement of the spleen ( splenomegaly ); and bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs and difficulty breathing. Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet).
- Thrombocythemia 3 OMIM
  
  A number sign (#) is used with this entry because thrombocythemia-3 (THCYT3) is caused by heterozygous germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p24. Description Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). Clinical Features Mead et al. (2012) reported a 3-generation family with autosomal dominant inheritance of thrombocythemia.
- Essential Thrombocythemia Orphanet
  
  Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage. Epidemiology Prevalence is estimated at 1/4,200 in the US and is reported at 1/3,333 in Sweden. Median age at diagnosis is 60-65 years, but the disease may occur at any age, with another peak in incidence in younger women. The female to male ratio is about 2:1. Clinical description The clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Some patients with ET are asymptomatic, while others may experience microcirculatory disturbances or vasomotor events: headaches, visual disturbances, lightheadedness, atypical chest pain, distal paresthesias, erythromelalgia, and other symptoms of transient neurological ischemia.
- Thrombocythemia 2 OMIM
  
  A number sign (#) is used with this entry because thrombocythemia-2 (THCYT2) is caused by heterozygous germline or somatic mutation in the MPL gene (159530) on chromosome 1p34. For a general phenotypic description and a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). Clinical Features Ding et al. (2004) reported a 3-generation Japanese family in which 8 of 16 members had thrombocythemia, with a platelet count more than 600 x 109/L. Bone marrow biopsies were normocellular and normoplastic, except for increased megakaryocytes. Inheritance The transmission pattern of thrombocythemia in the family reported by Ding et al. (2004) was consistent with autosomal dominant inheritance.
- Essential Thrombocythemia Wikipedia
  
  Essential thrombocythemia Other names Essential thrombocythaemia, essential thrombocytosis, primary thrombocytosis Specialty Hematology Essential thrombocythemia ( ET ) is a rare chronic blood cancer (myeloproliferative neoplasm) characterised by the overproduction of platelets (thrombocytes) by megakaryocytes in the bone marrow . [1] It may, albeit rarely, develop into acute myeloid leukemia or myelofibrosis . [1] It is one of four myeloproliferative neoplasms (blood cancers) that occur when the body makes too many white or red blood cells , or platelets). [1] Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 4.1 Indications 4.2 Agents 5 Prognosis 6 Epidemiology 7 Pregnancy 8 References 9 External links Signs and symptoms [ edit ] Most people with essential thrombocythemia are without symptoms at the time of diagnosis, which is usually made after noting an elevated platelet level on a routine complete blood count (CBC). [2] The most common symptoms are bleeding (due to dysfunctional platelets), blood clots (e.g., deep vein thrombosis or pulmonary embolism ), fatigue, headache, nausea, vomiting, abdominal pain, visual disturbances, dizziness, fainting , and numbness in the extremities; the most common signs are increased white blood cell count , reduced red blood cell count , and an enlarged spleen . [2] [3] [4] Cause [ edit ] In ET, megakaryocytes are more sensitive to growth factors . [ citation needed ] Platelets derived from the abnormal megakaryocytes are activated, which, along with the elevated platelet count, contributes to the likelihood of forming blood clots. [5] The increased possibility of bleeding when the platelet count is over 1 million is due to von Willebrand factor (vWF) sequestration by the increased mass of platelets, leaving insufficient vWF for platelet adhesion. [5] A mutation in the JAK2 kinase (V617F) is present in 40–50% of cases and is diagnostic if present. [1] [5] JAK2 is a member of the Janus kinase family. [1] [5] In 2013, two groups detected calreticulin mutations in a majority of JAK2 -negative/ MPL -negative patients with essential thrombocythemia and primary myelofibrosis , which makes CALR mutations the second most common in myeloproliferative neoplasms .
Schizophrenia 1 OMIM

Neither individual had neurologic dysfunction or mental retardation. The woman who was mother and sister of the affected men was phenotypically normal; her chromosomes showed a balanced translocation t(1;5)(q32.3;q13.3q11.2).

TSNAX-DISC1, TDO2, ATM, MAP3K8, SULT1E1
Löffler's Syndrome Wikipedia

External links [ edit ] Classification D ICD - 10 : J82 ICD - 9-CM : 518.3 MeSH : D011657 DiseasesDB : 7580 External resources MedlinePlus : 000105 eMedicine : ped/1322 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis

MYD88, CEL, SLC27A5, PARP9, ALB, CCR3, CCL13, CCL24, POSTN, DOCK8, IL33
Macular Degeneration, Age-Related, 13 OMIM

Seddon et al. (2013) found that 7.8% of ARMD cases compared to 2.3% of controls were carriers of rare missense CFI variants (odds ratio = 3.6; p = 2 x 10(-8)). There was a preponderance of dysfunctional variants in cases compared to controls.

CFI
Gastric Volvulus Wikipedia

PMID 9074918 . v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum
Mental Retardation With Language Impairment And With Or Without Autistic Features OMIM

In infancy, he had failure to thrive associated with oromotor dysfunction and excessive drooling. He showed delayed psychomotor development, with walking at age 25 months and a notable delay in speech and language acquisition with articulation difficulties.

FOXP1
- Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome GARD
  
  Intellectual disability-severe speech delay-mild dysmorphism syndrome , also known as intellectual disability with language impairment and with or without autistic features, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short nose with broad tip, head appearing too large for the body, frontal hair upsweep, bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have been the first to occur in the family (de novo). This condition is caused by changes (mutations) in the FOXP1 gene .
- Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome Orphanet
  
  Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Caplan's Syndrome Wikipedia

External links [ edit ] Classification D ICD - 10 : J99.0 M05.1 ICD - 9-CM : 714.81 MeSH : D002205 DiseasesDB : 1961 SNOMED CT : 398640008 External resources MedlinePlus : 000137 Patient UK : Caplan's syndrome 00057 at CHORUS v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Diseases of joints General Arthritis Monoarthritis Oligoarthritis Polyarthritis Symptoms Joint pain Joint stiffness Inflammatory Infectious Septic arthritis Tuberculosis arthritis Crystal Chondrocalcinosis CPPD (Psudogout) Gout Seronegative Reactive arthritis Psoriatic arthritis Ankylosing spondylitis Other Juvenile idiopathic arthritis Rheumatoid arthritis Felty's syndrome Palindromic rheumatism Adult-onset Still's disease Noninflammatory Hemarthrosis Osteoarthritis Heberden's node Bouchard's nodes Osteophyte

HLA-A
Bacterial Pneumonia Wikipedia

External links [ edit ] Classification D ICD - 10 : J13 - J16 ICD - 9-CM : 481 - 483 MeSH : D018410 External resources eMedicine : emerg/465 v t e Diseases of the respiratory system Upper RT (including URTIs , common cold ) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT / lung disease (including LRTIs ) Bronchial / obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD ) Asthma ( Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial / restrictive ( fibrosis ) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other ARDS Combined pulmonary fibrosis and emphysema Pulmonary edema Löffler's syndrome / Eosinophilic pneumonia Respiratory hypersensitivity Allergic bronchopulmonary aspergillosis Hamman-Rich syndrome Idiopathic pulmonary fibrosis Sarcoidosis Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia / pneumonitis By pathogen Viral Bacterial Pneumococcal Klebsiella Atypical bacterial Mycoplasma Legionnaires' disease Chlamydiae Fungal Pneumocystis Parasitic noninfectious Chemical / Mendelson's syndrome Aspiration / Lipid By vector/route Community-acquired Healthcare-associated Hospital-acquired By distribution Broncho- Lobar IIP UIP DIP BOOP-COP NSIP RB Other Atelectasis circulatory Pulmonary hypertension Pulmonary embolism Lung abscess Pleural cavity / mediastinum Pleural disease Pleuritis/pleurisy Pneumothorax / Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease Mediastinitis Mediastinal emphysema Other/general Respiratory failure Influenza Common cold SARS Coronavirus disease 2019 Idiopathic pulmonary haemosiderosis Pulmonary alveolar proteinosis v t e Pneumonia Infectious pneumonias Bacterial pneumonia Viral pneumonia Fungal pneumonia Parasitic pneumonia Atypical pneumonia Community-acquired pneumonia Healthcare-associated pneumonia Hospital-acquired pneumonia Ventilator-associated pneumonia Severe acute respiratory syndrome Pneumonias caused by infectious or noninfectious agents Aspiration pneumonia Lipid pneumonia Eosinophilic pneumonia Bronchiolitis obliterans organizing pneumonia Noninfectious pneumonia Chemical pneumonitis Idiopathic pneumonia syndrome

SFTPB, CXCL1, F2, CYP2J2, CXCL2, PDPN, ITGB3, PECAM1, TLR2, TLR6, SFTPA1, SFTPC, SFTPD, CAT, IL6, IL22, IL10, HMGB1, HAMP, IL17A, NAMPT, IP6K1, IL17RA, SCGB1A1, TYK2, TNF, ABL1, FOXP3, IL23A, IL36G, ACE2, BPIFB1, UCN3, NLRP3, MIR155, MIR21, CCR2, DEFB4B, LARP1BP2, TLR3, SERPINA1, STAT3, GRN, CD68, CHI3L1, CR1, CRP, CSF2, CSF3, CST3, DEFB4A, DNAH8, FER, NR3C1, CCL2, HIF1A, HPR, IL11, LCN2, MTTP, NM, SERPINE1, PF4, AMBP, S100A12, RNU6-392P
Juvenile Dermatomyositis Wikipedia

Please help to improve this article by introducing more precise citations. ( April 2009 ) ( Learn how and when to remove this template message ) Juvenile dermatomyositis Juvenile dermatomyositis Specialty Rheumatology Juvenile dermatomyositis ( JDM ) is an idiopathic inflammatory myopathy (IMM) of presumed autoimmune dysfunction resulting in muscle weakness among other complications.

TNF, IL1B, IL1A, C2, C9, HLA-B, HLA-DQA1, HLA-DRB1, RBM45, VCAM1, CCL21, IFNA13, IFNA1, MX1, TLR7, IFIH1, TLR3, THBS1, CDR3, TLR4, CRISP2, ABCC8, TRIM21, WT1, ACR, CD83, ISG15, MORC3, IGAN1, SMOC1, MCHR2, NT5C1A, SPZ1, ABCC11, PRSS55, SPP1, PLCL1, CCL19, IFNG, BLK, C4A, CASP6, CD68, CRP, HLA-A, HLA-DMA, HLA-DMB, IFIT3, IFNB1, IL6, CCL18, CXCL8, IL10, CXCL10, IRF7, LGALS9, NCAM1, PF4, BCL2, PLCG2, S100A8, MIR10A
- Juvenile Dermatomyositis Orphanet
  
  Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. Epidemiology The exact prevalence of JDM is not known. Estimated annual incidence rates range from 1/520,000 to 1/250,000. Females are affected more frequently than males (2.3:1 ratio). Clinical description Dermatomyositis occurring before the age of 18 years is considered to be JDM. The average age of onset is 5 to 14 years of age (median = 7 years). Patients commonly have the signs of DM, i.e symmetrical proximal muscle weakness and erythematous rash (heliotrope rash, Gottron papules, sunexposed areas erythema), that is sometimes pruritic, along with cutaneous vasculitis and ulcerations, calcinosis of soft tissue (20-40%), and vasculopathy affecting the digestive tract (with bowel ischemia and/or infarction, abdominal pain, and melena). Muscle weakness leads to variable impairment of physical function. Commonly reported signs also include myalgia and arthralgia.
- Juvenile Dermatomyositis GARD
  
  Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis . It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema , muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.