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2,359 Possible Causes for Rarely Autosomal Dominant Inheritance

  • Glanzmann Thrombasthenia

    Several rare mutations cause a Glanzmann-like syndrome which manifests macrothrombocytopenia and usually displays autosomal dominant inheritance.[ncbi.nlm.nih.gov] Abstract Mutations in the ITGA2B or ITGB3 genes that encode for the αIIbβ3 platelet integrin usually cause Glanzmann thrombasthenia, a severe autosomal recessive bleeding[ncbi.nlm.nih.gov]

  • Peutz-Jeghers Syndrome

    Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal polyposis and mucocutaneous pigmentation.[ncbi.nlm.nih.gov] BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation[ncbi.nlm.nih.gov] Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation.[ncbi.nlm.nih.gov]

  • Quebec Platelet Disorder

    Abstract Quebec platelet disorder (QPD) is a rare, autosomal-dominant, inherited bleeding disorder that is associated with unique abnormalities in fibrinolysis.[ncbi.nlm.nih.gov] , autosomal-dominant, inherited bleeding disorder that is associated with unique abnormalities in fibrinolysis.[doi.org] Hayward, Catherine PM a,b doi: 10.1097/MBC.0b013e3282f41e3e REVIEW ARTICLE Abstract Author Information Authors Article Metrics Metrics Quebec platelet disorder (QPD) is a rare[journals.lww.com]

  • Anemia

    Salient examples are discussed here, with greater details and more comprehensive summaries provided by numerous textbooks. 11 Diamond-Blackfan anemia (DBA) is a rare inherited[ncbi.nlm.nih.gov] Most DBA patients have autosomal dominant mutations in one of at least 12 ribosomal protein (RP) genes. 12 How haploinsufficiency of different RP genes causes anemia is unknown[ncbi.nlm.nih.gov]

  • Birt-Hogg-Dubé Syndrome

    Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous[ncbi.nlm.nih.gov] Abstract Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN).[ncbi.nlm.nih.gov] Birt–Hogg–Dubé syndrome is a rare autosomal dominant inherited condition characterised by the development of benign (non-cancerous) tumours on the head, face and upper body[dermnetnz.org]

  • Insomnia

    Abstract Fatal familial insomnia (FFI) is a rare prion disease commonly inherited in an autosomal dominant pattern from a mutation in the PRioN Protein (PRNP) gene.[ncbi.nlm.nih.gov]

  • Multiple Self-Healing Squamous Epithelioma

    autosomal dominant inherited condition first identified in the west of Scotland, that presents with multiple squamous cell skin carcinomas which grow, invade locally and[cancerres.aacrjournals.org] Abstract Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance[ncbi.nlm.nih.gov] […] carried out of the region on chromosome 9 containing the locus responsible for Ferguson-Smith disease, or multiple self-healing squamous epithelioma (MSSE/FSD); this is a rare[cancerres.aacrjournals.org]

  • Oculodentodigital Dysplasia

    Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart.[ncbi.nlm.nih.gov] Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition.[ncbi.nlm.nih.gov] autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition.[doi.org]

  • Hyperuricemia

    Although rare individuals with ADTKD- UMOD have been found to have proteinuria, this is uncharacteristic. Autosomal dominant polycystic kidney disease (ADPKD).[ncbi.nlm.nih.gov] Prevalence Autosomal dominant tubulointerstitial kidney disease, REN -related (ADTKD- REN ) is extremely rare, with only approximately 14 families having been identified worldwide[ncbi.nlm.nih.gov] If blood or protein is present in the urine, consider inherited glomerulonephritis (e.g., Alport syndrome ).[ncbi.nlm.nih.gov]

  • Goiter

    Homepage Rare diseases Search Search for a rare disease Familial multinodular goiter ORPHA:276399 Synonym(s): FMNG Familial MNG Prevalence: Unknown Inheritance: Autosomal[orpha.net] dominant Age of onset: Adolescent ICD-10: E04.2 OMIM: 138800 UMLS: - MeSH: - GARD: - MedDRA: - Summary An Orphanet summary for this disease is currently under development.[orpha.net]

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