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Orofaciodigital Syndrome Type 13
Orphanet
Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet).
- Mehmo Syndrome Orphanet
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Idiopathic Nephrotic Syndrome
Orphanet
Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.NPHS2, NPHS1, AXDND1, ACE, ABCB1, TBC1D9, HLA-DRB1, CABIN1, MS4A1, CD80, TNF, IL6, F5, KRT20, TLR3, TRPC6, UCHL1, TPT1, SCGB1A1, ACTN4, FGF23, NR1I2, HPGDS, SOST, ACE2, IGAN1, CMIP, ESPN, TLR4, PLG, SOD2, HSP90AA1, CD247, EDN1, EDNRA, FCGR2A, FCGR3A, FCGR3B, NR3C1, HLA-DQA1, IL1B, REN, IL17A, INS, LPA, MIF, MTHFR, APOE, POMC, PON1, RBM45
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Tp63-Related Disorders
Gene_reviews
Breast and/or nipple hypoplasia that may be symmetric or asymmetric is typically seen in ADULT syndrome and limb-mammary syndrome and not in other TP63- related disorders. ... Breast and/or nipple hypoplasia has been reported in 90% of individuals with limb-mammary syndrome [van Bokhoven et al 1999]. It may be symmetric or asymmetric, and is typical for ADULT syndrome and limb-mammary syndrome and rarely seen in other TP63- related disorders. ... Clinical Characteristics Clinical Description AEC Syndrome The manifestations of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome are typically present at birth. ... Other pathogenic variants have been reported in isolated patients with features reminiscent of ADULT syndrome, but also of other TP63 -associated syndromes. ... Nomenclature Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is also known as Hay-Wells syndrome after the physicians who first described the condition in 1976.
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Multiple Endocrine Neoplasia Type 1
Gene_reviews
Socin et al [2003] 5. Manifest as Zollinger-Ellison syndrome (ZES) The endocrine tumors of MEN1 syndrome occur in varying combinations in individuals. ... Approximately 40% of individuals with MEN1 syndrome have gastrinoma, which manifests as Zollinger-Ellison syndrome (ZES). ... Twenty-five percent of individuals with MEN1 syndrome/ZES have no family history of MEN1 syndrome [Gibril et al 2004]. ... Morbidity and Mortality of MEN1 Syndrome Improved knowledge of MEN1 syndrome-associated clinical manifestations, early diagnosis of MEN1 syndrome-associated tumors, and treatment of metabolic complications of MEN1 have virtually eliminated ZES and/or complicated PHPT as causes of death. ... MEN1 syndrome-associated malignancies currently account for approximately 30% of deaths in MEN1 syndrome.MEN1, CDKN1B, CDKN2C, CDKN2B, CDKN1A, RET, PYGM, CDC73, AIP, PTH, GAST, SST, GCG, GH1, PRL, EPHB1, ELK3, SLC6A2, CCND1, PSMD9, CIB1, ZNRD2, DCTN6, IFI27, TMED7, TICAM2, TMED7-TICAM2, PLCB3, H3P23, CASR, INTS2, PPY, FGF3, TP53, SF1, GHRH, CDK4, CTNNB1, FGF2, GNAS, CDKN3, HPT, PRKAR1A, VDR, CAPN1, CASP8, VHL, IGF1, DAXX, SMUG1, GSTP1, GRN, GNA12, FOXN3, SDHB, SDHD, POMC, DNMT1, SCG2, RASSF7, PDE8B, CYP24A1, UCP1, VEGFA, BRCA1, TTF1, TSC2, SUV39H1, SULT1E1, BRCA2, EIF4EBP3, ATRX, GCM2, MFHAS1, ALB, POTEF, POU5F1P4, POU5F1P3, MIR28, AMHR2, TCHP, APC, CDCA7L, MEG3, RBM47, APRT, PDE11A, NEUROG3, UBN1, CADM1, ASCL1, SLC8A1, BGLAP, PRMT5, CHST4, DEPDC5, KLF4, SOX2, CALB1, CA9, SLC29A2, MFAP1, CDK6, SMAD3, PDX1, INS, CXCL10, IAPP, HTC2, HRAS, FOXA2, SIPA1, GLP1R, GFAP, CHGA, GAPDH, MAP3K8, MTOR, FKBP2, FAU, CSF2, MMP9, NEUROD1, NRAS, NTRK1, SFRP5, SEA, SDHC, SDHA, RPL10, RPA2, RIT2, PTCH1, KLK6, PPP2R5B, PTPA, PPP1CA, POU5F1, POU3F2, ACTB, PIK3CG, PIK3CD, PIK3CB, PIK3CA, ABO
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Megalocornea-Mental Retardation Syndrome
Omim
Kimura et al. (1991) described a patient with Neuhauser syndrome who also had primary hypothyroidism and delayed myelination observed on brain magnetic resonance imaging (MRI). ... Sarkozy et al. (2002) reported a child with megalocornea-mental retardation syndrome who had also had primary hypothyroidism, osteopenia, and hypercholesterolemia. ... Derbent et al. (2004) reported a male child with features of Neuhauser syndrome, including mental and motor retardation, megalocornea, and generalized hypotonia. ... Verloes et al. (1993) reported 4 unrelated cases of megalocornea and mental retardation associated with anomalies that the authors considered to be distinct from Neuhauser syndrome. The authors classified the megalocornea-mental retardation syndromes into 5 types: type 1 was Neuhauser syndrome, with iris hypoplasia and minor anomalies. ... Davidson et al. (2014) suggested that MMR syndrome may be digenic or multigenic in some cases.
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Inferior Vena Cava Syndrome
Wikipedia
Inferior vena cava syndrome Inferior vena cava Specialty Cardiology Inferior vena cava syndrome ( IVCS ) is a constellation of symptoms resulting from obstruction of the inferior vena cava . ... This is caused by decreased perfusion of the uterus, resulting in hypoxemia of the fetus. Supine hypotensive syndrome Causes [ edit ] Obstruction by deep vein thrombosis or tumors (most commonly renal cell carcinoma ) Compression through external pressure by neighbouring structures or tumors, either by significantly compressing the vein or by promoting thrombosis by causing turbulence by disturbing the blood flow. ... It is seen most commonly when women lie on their back or right side. [4] 90% of women lying in the supine position during pregnancy experience some form of inferior vena cava syndrome; however, not all of the women display symptoms. [4] References [ edit ] ^ D.B. ... Mengert (1953). "Supine hypotensive syndrome in late pregnancy". Obstetrics and Gynecology . 1 (4): 371–377. ... External links [ edit ] Classification D ICD - 10 : I87.1 External resources eMedicine : emerg/2718 v t e Cardiovascular disease (vessels) Arteries , arterioles and capillaries Inflammation Arteritis Aortitis Buerger's disease Peripheral artery disease Arteriosclerosis Atherosclerosis Foam cell Fatty streak Atheroma Intermittent claudication Critical limb ischemia Monckeberg's arteriosclerosis Arteriolosclerosis Hyaline Hyperplastic Cholesterol LDL Oxycholesterol Trans fat Stenosis Carotid artery stenosis Renal artery stenosis Other Aortoiliac occlusive disease Degos disease Erythromelalgia Fibromuscular dysplasia Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm torso : Aortic aneurysm Abdominal aortic aneurysm Thoracic aortic aneurysm Aneurysm of sinus of Valsalva Aortic dissection Aortic rupture Coronary artery aneurysm head / neck Intracranial aneurysm Intracranial berry aneurysm Carotid artery dissection Vertebral artery dissection Familial aortic dissection Vascular malformation Arteriovenous fistula Arteriovenous malformation Telangiectasia Hereditary hemorrhagic telangiectasia Vascular nevus Cherry hemangioma Halo nevus Spider angioma Veins Inflammation Phlebitis Venous thrombosis / Thrombophlebitis primarily lower limb Deep vein thrombosis abdomen Hepatic veno-occlusive disease Budd–Chiari syndrome May–Thurner syndrome Portal vein thrombosis Renal vein thrombosis upper limb / torso Mondor's disease Paget–Schroetter disease head Cerebral venous sinus thrombosis Post-thrombotic syndrome Varicose veins Gastric varices Portacaval anastomosis Caput medusae Esophageal varices Hemorrhoid Varicocele Other Chronic venous insufficiency Chronic cerebrospinal venous insufficiency Superior vena cava syndrome Inferior vena cava syndrome Venous ulcer Arteries or veins Angiopathy Macroangiopathy Microangiopathy Embolism Pulmonary embolism Cholesterol embolism Paradoxical embolism Thrombosis Vasculitis Blood pressure Hypertension Hypertensive heart disease Hypertensive emergency Hypertensive nephropathy Essential hypertension Secondary hypertension Renovascular hypertension Benign hypertension Pulmonary hypertension Systolic hypertension White coat hypertension Hypotension Orthostatic hypotension
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Enteropathy
Wikipedia
Contents 1 Types 2 References 3 External links Types [ edit ] Specific types of enteropathy include: Enteropathy-associated T-cell lymphoma Environmental enteropathy An incompletely defined syndrome of inflammation related to the quality of the environment. ... Eosinophil build up in the gastrointestinal tract can result in polyp formation, tissue break down, inflammation , and ulcers . [3] Gluten-sensitive enteropathy (which can progress to coeliac disease ) Coeliac disease A malabsorption syndrome precipitated by the ingestion of foods containing gluten in a predisposed individual. ... External links [ edit ] Classification D ICD - 9-CM : 569.9 MeSH : D007410 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 This article about a disease , disorder, or medical condition is a stub .SAMD9, CTLA4, NOS2, DDIT3, SGO1, PPIF, CDCA7, MYO5B, MUC2, BCL2, CASP3, SOD2, BAX, CRTC1, LRRC8D, BARX1, ALDH1A2, NOD2, FOXP3, SLCO2A1, TGM2, IL10, GCG, ACAD8, CFTR, TNF, IL1B, TLR4, PTGS2, COX2, IL17A, MTCO2P12, HMOX1, STAT3, P2RX7, IFNG, MPO, EPCAM, TNFRSF1B, NCAM1, MUC1, IL15, GUSB, FHL5, IL7, SI, ATG16L1, TTC7A, AHR, LRBA, CASP1, NLRP3, MIR150, MIR342, TNFRSF1A, MIR22, TP53, HSP90B1, NPSR1, ZGLP1, LINC01193, STH, TRPV1, ABCB11, NPS, DEFB4B, TGFB1, ST14, SLC6A4, SLC9A3, SLC10A2, LINC02210-CRHR1, SOD1, P2RX5-TAX1BP3, MICA, DGAT1, STAT5B, STX3, STXBP2, ADAM17, PRDX2, TFF3, GPBAR1, RIPK1, KRT20, IL17B, P2RX2, HSH2D, ZGPAT, SELENOP, MACF1, REG4, HPGDS, RAB11A, EHMT1, PYCARD, ALG8, IL20, ANO1, ABHD5, SCAP, FOXP2, OGA, IL17F, DBA2, USH1C, LPIN2, CLCA3P, NAPSA, ADIPOQ, CD163, P2RX6, LRRK2, SLC16A3, SLC16A4, NR1I2, RC3H1, ACTA2, SERPINE1, CCL20, ATN1, FDXR, G6PC, GDNF, GFAP, GH1, CBLIF, GLP1R, FFAR2, GUCA2A, GUCA2B, GZMB, HGF, HLA-G, HSPD1, ID2, IGF1, IL2, IL4, IL5, STX2, DPP4, BRD2, NQO1, AKR1B1, ALK, AMBP, ANXA1, AIRE, STS, AVP, B2M, BTD, CAT, CCK, TNFRSF8, CD44, CDKN3, CLDN3, CRHR1, DAPK3, ACE, DEFB4A, IL6, IL12B, IL12RB1, IL13, OPRM1, P2RX1, P2RX3, P2RX4, P2RX5, P2RY1, P2RY2, AGT, ABCB1, PHB, SERPINA1, PLG, PLIN1, PPARA, PRTN3, PYY, PTGS1, PTPN2, REG1B, OPRK1, NM, MUC5AC, LTF, IL16, ITGB4, KRT1, LCN2, LCT, LMNB1, LTA, LTBR, LYZ, COX1, SMAD2, SMAD3, SMAD7, MATK, RAB8A, MIF, MMP1, MT3, LINC02605
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Ramsay Hunt Syndrome Type 1
Wikipedia
For other uses, see Ramsay Hunt syndrome . Ramsay Hunt syndrome type 1 Specialty Neurology Ramsay Hunt syndrome (RHS) type 1 is a rare, degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor , progressive ataxia and occasionally cognitive impairment [1] It has also been alternatively called dyssynergia cerebellaris myoclonica , [2] [3] dyssynergia cerebellaris progressiva , [4] dentatorubral degeneration, or Ramsay Hunt cerebellar syndrome. ... "Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies" . ... Brain . 37 (2): 247–268. doi : 10.1093/brain/37.2.247 . ^ Lu CS, Thompson PD, Quinn NP, Parkes JD, Marsden CD (1986). "Ramsay Hunt syndrome and coeliac disease: a new association?". ... "CSF antigliadin antibodies and the Ramsay Hunt syndrome". Neurology . 49 (4): 1131–3. doi : 10.1212/wnl.49.4.1131 . PMID 9339701 . ^ Berkovic SF, Andermann F (January 1990). "Ramsay Hunt syndrome: to bury or to praise" . J. Neurol.
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Neuropsychiatric Systemic Lupus Erythematosus
Wikipedia
It is estimated that over half of people with SLE have neuropsychiatric involvement. [1] Contents 1 Classification 1.1 Other syndromes 2 Pathogenesis 3 Diagnosis 4 Treatment 5 See also 6 References Classification [ edit ] The American College of Rheumatology (ACR) has outlined 19 syndromes that are seen in NPSLE. ... Between 10-15% of people with NPSLE have PNS involvement. [3] Mononeuropathy and polyneuropathy are the most common PNS syndromes. [1] Other syndromes [ edit ] Some neurological syndromes outside of the ACR classification may also be considered NPSLE manifestations. These include neuromyelitis optica , posterior reversible encephalopathy syndrome , small fiber neuropathy , [4] and Lambert–Eaton myasthenic syndrome . [5] Pathogenesis [ edit ] There are several possible mechanisms that underlie the nervous system manifestations of lupus. Specific syndromes may be vasculopathic , autoantibody-mediated, or inflammatory in nature. ... Dubois' Lupus Erythematosus and Related Syndromes (Ninth ed.). Elsevier. pp. 434–456. doi : 10.1016/B978-0-323-47927-1.00036-0 .
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Autoimmune Lymphoproliferative Syndrome
Wikipedia
Autoimmune lymphoproliferative syndrome Other names Canale-Smith syndrome , [1] Specialty Immunology Autoimmune lymphoproliferative syndrome ( ALPS ), is a form of lymphoproliferative disorder (LPDs). ... J Allergy Clin Immunol ^ Autoimmune Lymphoproliferative Syndrome (ALPS) Causes. (2019, April 19). ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study" . ... "Autoimmune Lymphoproliferative Syndrome: New Approaches to Diagnosis and Management" . ... "A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation" .FAS, FASLG, CASP10, NRAS, CASP8, PRKCD, TNFAIP3, RASGRP1, IL10, TRBV20OR9-2, KRAS, SPP1, UNC13D, IL17A, STAT3, FOXP3, B3GAT1, CTLA4, PRF1, CDR3, FADD, TIMP1, TNF, MIR21, EOMES, MIR146A, IL17F, PPIG, LSM2, BCL2L11, TNFRSF13C, KLRG1, TCF7, MMRN1, SMUG1, ADA2, KRT20, LYPLA1, ABCD1, HNF1A, TAP1, AIRE, XIAP, BCL2, CASP9, MS4A1, CD27, CD28, CD48, LRBA, CETN2, COL4A2, MTOR, HLA-A, HMMR, IFNG, IL2RA, ISG20, SH2D1A, PCNA, PIK3CD, APCS, SLC6A3, STAT5B, RN7SL263P
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Acanthosis Nigricans
Wikipedia
Activation of other growth factor receptors such as fibroblast growth factor receptors or epidermal growth factor receptor can also be responsible. [2] Contents 1 Signs and symptoms 2 Causes 2.1 Type I – familial 2.2 Type II – endocrine 2.3 Type III – obesity and pseudoacanthosis nigricans 2.4 Type IV – drug-related 2.5 Type V – malignancy 2.6 Acral acanthotic anomaly 3 Pathophysiology 4 Diagnosis 4.1 Differential diagnosis 4.2 Classification 5 Treatment 6 Prognosis 7 References 8 External links Signs and symptoms [ edit ] Acanthosis nigricans may present with thickened, velvety, relatively darker areas of skin on the neck, armpit and in skin folds. [3] Causes [ edit ] It typically occurs in individuals younger than age 40, may be genetically inherited and is associated with obesity or endocrinopathies, such as hypothyroidism , acromegaly , polycystic ovary disease , insulin-resistant diabetes or Cushing's disease . [ citation needed ] Type I – familial [ edit ] Familial acanthosis [4] : 86 may arise as a result of an autosomal dominant trait, presenting at birth or developing during childhood. [5] : 506 [6] : 676 Type II – endocrine [ edit ] Endocrine syndromes associated with acanthosis nigricans [5] : 506–7 can develop in many conditions, particularly: [3] : 978 [4] : 86 starts with insulin resistance , such as diabetes mellitus and metabolic syndrome excess circulating androgens , particularly Cushing's disease , acromegaly , polycystic ovarian disease Addison's disease and hypothyroidism Rare diseases, including pinealoma , leprechaunism , lipoatrophic diabetes , pineal hyperplasia syndrome, pituitary basophilism, ovarian hyperthecosis, stromal luteoma, ovarian dermoid cysts, Prader-Willi syndrome , and Alström syndrome . ... Acanthosis nigricans may lighten up and possibly go away by treating the root cause, insulin resistance, but it can take months or years to do so. [7] Insulin resistance syndromes may be divided into type A (HAIR-AN) and type B syndromes. [3] : 978 The majority of cases of acanthosis nigricans are associated with obesity and otherwise idiopathic. ... Blood tests, an endoscopy , or X-rays may be required to eliminate the possibility of diabetes or cancer as the cause. [4] : 87 On biopsy, hyperkeratosis, epidermal folding, leukocyte infiltration, and melanocyte proliferation may be seen. [3] : 979 [4] : 87 Differential diagnosis [ edit ] Acanthosis nigricans should be distinguished from the casal collar appearing in pellagra . [ citation needed ] Classification [ edit ] Acanthosis nigricans is conventionally divided into benign and malignant forms, [3] [10] although may be divided into syndromes according to cause: [5] : 506 Benign This may include obesity-related, hereditary, and endocrine forms of acanthosis nigricans. [3] Malignant. ... It delineates acanthosis nigricans syndromes according to their associated syndromes, including benign and malignant forms, forms associated with obesity and drugs, acral acanthosis nigricans, unilateral acanthosis nigricans, and mixed and syndromic forms. [16] [17] Treatment [ edit ] People with acanthosis nigricans should be screened for diabetes and, although rare, cancer. ... External links [ edit ] 00001 at CHORUS Classification D ICD - 10 : L83 ICD - 9-CM : 701.2 OMIM : 100600 MeSH : D000052 DiseasesDB : 58 SNOMED CT : 402599005 External resources MedlinePlus : 000852 eMedicine : derm/1 Wikimedia Commons has media related to Acanthosis nigricans . v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation v t e Cutaneous keratosis, ulcer, atrophy, and necrobiosis Epidermal thickening keratoderma : Keratoderma climactericum Paraneoplastic keratoderma Acrokeratosis paraneoplastica of Bazex Aquagenic keratoderma Drug-induced keratoderma psoriasis Keratoderma blennorrhagicum keratosis : Seborrheic keratosis Clonal seborrheic keratosis Common seborrheic keratosis Irritated seborrheic keratosis Seborrheic keratosis with squamous atypia Reticulated seborrheic keratosis Dermatosis papulosa nigra Keratosis punctata of the palmar creases other hyperkeratosis : Acanthosis nigricans Confluent and reticulated papillomatosis Callus Ichthyosis acquisita Arsenical keratosis Chronic scar keratosis Hyperkeratosis lenticularis perstans Hydrocarbon keratosis Hyperkeratosis of the nipple and areola Inverted follicular keratosis Lichenoid keratosis Multiple minute digitate hyperkeratosis PUVA keratosis Reactional keratosis Stucco keratosis Thermal keratosis Viral keratosis Warty dyskeratoma Waxy keratosis of childhood other hypertrophy: Keloid Hypertrophic scar Cutis verticis gyrata Necrobiosis / granuloma Necrobiotic/palisading Granuloma annulare Perforating Generalized Subcutaneous Granuloma annulare in HIV disease Localized granuloma annulare Patch-type granuloma annulare Necrobiosis lipoidica Annular elastolytic giant-cell granuloma Granuloma multiforme Necrobiotic xanthogranuloma Palisaded neutrophilic and granulomatous dermatitis Rheumatoid nodulosis Interstitial granulomatous dermatitis / Interstitial granulomatous drug reaction Foreign body granuloma Beryllium granuloma Mercury granuloma Silica granuloma Silicone granuloma Zirconium granuloma Soot tattoo Tattoo Carbon stain Other/ungrouped eosinophilic dermatosis Granuloma faciale Dermis / localized CTD Cutaneous lupus erythematosus chronic: Discoid Panniculitis subacute : Neonatal ungrouped: Chilblain Lupus erythematosus–lichen planus overlap syndrome Tumid Verrucous Rowell's syndrome Scleroderma / Morphea Localized scleroderma Localized morphea Morphea–lichen sclerosus et atrophicus overlap Generalized morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma Atrophic / atrophoderma Lichen sclerosus Anetoderma Schweninger–Buzzi anetoderma Jadassohn–Pellizzari anetoderma Atrophoderma of Pasini and Pierini Acrodermatitis chronica atrophicans Semicircular lipoatrophy Follicular atrophoderma Linear atrophoderma of Moulin Perforating Kyrle disease Reactive perforating collagenosis Elastosis perforans serpiginosa Perforating folliculitis Acquired perforating dermatosis Skin ulcer Pyoderma gangrenosum Other Calcinosis cutis Sclerodactyly Poikiloderma vasculare atrophicans Ainhum / Pseudo-ainhum v t e Paraneoplastic syndromes Endocrine Hypercalcaemia SIADH Zollinger–Ellison syndrome Cushing's syndrome Hematological Multicentric reticulohistiocytosis Nonbacterial thrombotic endocarditis Neurological Paraneoplastic cerebellar degeneration Encephalomyelitis Limbic encephalitis Opsoclonus Polymyositis Transverse myelitis Lambert–Eaton myasthenic syndrome Anti-NMDA receptor encephalitis Musculoskeletal Dermatomyositis Hypertrophic osteopathy Mucocutaneous reactive erythema Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe palms Other Febrile neutrophilic dermatosis Pyoderma gangrenosum Paraneoplastic pemphigusFGFR3, INSR, LMNA, PPARG, FGFR2, AKT2, AIP, CAV1, PLIN1, POMC, PSMB4, PSMB9, XRCC4, ALMS1, CUL4B, CLDN1, PCSK1, ZMPSTE24, AGPAT2, SPINK5, POLR3A, BSCL2, PRMT7, CIDEC, ELOVL1, GPR101, CAVIN1, PEX1, PEX6, NSMCE2, FOS, MC4R, LIPE, CYP19A1, HRAS, ERF, ESR1, JUP, LEP, RNF19A, AHSA1, FGFR1, PNPLA2, POLDIP2, MAPK14, CRP, CRK, GZMB, PCNA, TBC1D4, GRAP2, SERPINF1, IL6, CXCL8, AIMP2, INS, TNF, TGFA, KDR, KRT18, MAPK1, NTRK1, SERPINE1, IGF1R
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Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Omim
He concluded that Weissenbacher-Zweymuller syndrome and nonocular Stickler syndrome are the same disorder and suggested the designation heterozygous OSMED. Pihlajamaa et al. (1998) likewise concluded that WZS and nonocular Stickler syndrome are identical and suggested that they be classified as the heterozygous type of OSMED. Clinical Features First described in 1964 as 'Pierre Robin syndrome with fetal chondrodysplasia,' the Weissenbacher-Zweymuller syndrome is characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years (Weissenbacher and Zweymuller, 1964; Haller et al., 1975). ... Brunner et al. (1994) reported a large Dutch kindred in which 16 members had characteristic facial features of Stickler syndrome (see 108300) in combination with hearing impairment. Cleft palate or mild arthropathy occurred in several patients, but ocular signs of Stickler syndrome (high myopia, vitreoretinal degeneration, and retinal detachment) were absent.
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Bacillary Peliosis
Wikipedia
PMID 9407154 . v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis 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 This article about a disease , disorder, or medical condition is a stub .
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Acrogeria
Wikipedia
Acrogeria Other names Acrogeria, Gottron type, Gottron's syndrome [1] Collagen(which is below normal/damaged in this condition) [2] Specialty Dermatology Acrogeria (Gottron's syndrome) is a skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). [1] The prefix "acro" stems from the Greek akros which alludes to "extremity, tip" while the suffix "geria" comes from the Greek gerôn which means "elder". This is one of the classic congenital premature aging syndromes, occurring early in life, others being pangeria ( Werner's syndrome ) and progeria (Hutchinson–Gilford's syndrome), and was characterized in 1940. [3] Onset is in early childhood, it progresses over the next few years and then remains stable over time with morphology, colour and site remaining constant. A bruising tendency has been observed. [4] It is believed that Gottron syndrome may affect more females than males. ... As a consequence, a certain number of authors consider acrogeria mainly as a cutaneous affection, but the bone alterations are well described as part of the syndrome.For patients who show typical alterations of acrogeria and metageria, in a concomitant way, the single term of "Acrometageria" has been proposed, which can refer to the widest spectrum of premature ageing syndromes. However, this concept is still not generally accepted in the medical literature. [ citation needed ] As these are extremely rare syndromes, all sharing an aspect of aging skin similar to progeria, they are also called progeroid syndromes, from time to time. ... External links [ edit ] Familial acrogeria in a brother and sister Classification D OMIM : 201200 MeSH : C538187 External resources Orphanet : 2500 v t e Disorders involving multiple endocrine glands Autoimmune polyendocrine syndrome APS1 APS2 Carcinoid syndrome Multiple endocrine neoplasia 1 2A 2B Progeria Werner syndrome Acrogeria Metageria Woodhouse–Sakati syndrome
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Pilomatricoma
Wikipedia
Clinically, pilomatricomas present as a subcutaneous nodule or cyst with unremarkable overlying epidermis that can range in size from 0.5-3.0 cm, but the largest reported case was 24 cm. [4] Contents 1 Presentation 1.1 Associations 2 Histologic features 3 Pathogenesis 4 Diagnosis 5 See also 6 References 7 External links Presentation [ edit ] Associations [ edit ] Pilomatricomas have been observed in a variety of genetic disorders including Turner syndrome , myotonic dystrophy , Rubinstein-Taybi syndrome , Trisomy 9 , and Gardner syndrome . [5] It has been reported that the prevalence of pilomatricomas in Turner syndrome is 2.6%. [6] Hybrid cysts that are composed of epidermal inclusion cysts and pilomatricoma-like changes have been repeatedly observed in Gardner syndrome. [7] [8] [9] [10] This association has prognostic import, since cutaneous findings in children with Gardner Syndrome generally precede colonic polyposis . [ citation needed ] Histologic features [ edit ] Pilomatricomas consist of anucleate squamous cells (called "ghost cells"), benign viable squamous cells and foreign body giant cells. ... "Pilomatricoma-like changes in the epidermal cysts of Gardner's syndrome". Journal of the American Academy of Dermatology . 8 (5): 639–44. doi : 10.1016/S0190-9622(83)70071-X . ... "An Unusual Hybrid Cyst in Gardner's Syndrome with Partial Differentiation toward the Inner Root Sheath". ... PMID 2628457 . ^ Rütten, A; Wenzel, P; Goos, M (1990). "Gardner-Syndrom mit pilomatrixomartigen Haarfollikelzysten" [Gardner syndrome with pilomatrixoma-like hair follicle cysts]. ... INIST : 19291018 . ^ Narisawa, Yutaka; Kohda, Hiromu (1995). "Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells".
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Thin Basement Membrane Disease
Wikipedia
Frank hematuria and loin pain should prompt a search for another cause, such as kidney stones or loin pain-hematuria syndrome . Also, there are no systemic manifestations, so presence of hearing impairment or visual impairment should prompt a search for hereditary nephritis such as Alport syndrome . ... The history and presentation are helpful in this regard: In Alport syndrome , there is often a family history of kidney failure , which may be associated with hearing impairment . ... "A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy" . ... "COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome". Kidney Int . 60 (2): 480–3. doi : 10.1046/j.1523-1755.2001.060002480.x . ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) External links [ edit ] Classification D ICD - 10 : N05.8 MeSH : C562476 DiseasesDB : 5363 External resources MedlinePlus : 003524 eMedicine : med/149 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
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Giant Axonal Neuropathy
Wikipedia
National Library of Medicine External links [ edit ] Giant axonal neuropathy at NLM Genetics Home Reference GeneReview/NIH/UW entry on Giant Axonal Neuropathy Classification D ICD - 10 : G60.8 OMIM : 256850 MeSH : D056768 DiseasesDB : 33515 External resources GeneReviews : Giant Axonal Neuropathy Orphanet : 643 v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins
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Fibular Aplasia-Complex Brachydactyly Syndrome
Orphanet
A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene ( GDF5 ).
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King Denborough Syndrome
Gard
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia , skeletal abnormalities and dysmorphic features with characteristic facial appearance. Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease .