Alport syndrome 1, X-linked

Preferred Label : Alport syndrome 1, X-linked;

Symbol : ATS1;

CISMeF acronym : ATS; ATS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephropathy and deafness, X-linked; ATS;

Description : Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999). Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (203780); autosomal dominant inheritance (104200) is rare (Kashtan, 1999). See also benign familial hematuria (BFH; 141200), a phenotypically similar, but milder disorder. Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (308940) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; 300194).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-5 gene (COL4A5, 303630.0001);

Laboratory abnormalities : Hematuria, gross and microscopic; Proteinuria; Nephrotic syndrome;

Prefixed ID : #301050;

Details

Origin ID

301050;

UMLS CUI

C4746986;

Automatic exact mappings (from CISMeF team)
- Anti-Thymocyte Globulin [NCIt concept]
- Arizona Tobacco Survey [NCIt concept]
- Arterial tortuosity syndrome [ORDO Disease]
- At - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- At increased risk for noncompliance (finding) [SNOMED CT concept]
- Atypical Timothy syndrome [ORDO Disease]
- BTK wt Allele [NCIt concept]
- COL4A5 wt Allele [NCIt concept]
- Long QT Syndrome 7 [NCIt concept]
- antithyroid agents [MeSH Descriptor]
- atherosclerosis [MeSH Descriptor]
- nephritis, hereditary [MeSH Descriptor]
Broader ORDO disease(s)
- Alport syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Alport syndrome X-linked (disorder) [SNOMED CT concept]
- X-linked Alport syndrome [DO Concept]
- X-linked Alport syndrome [ORDO Disease]
- alport syndrome, X-Linked [MeSH concept]
- x linked Alport syndrome [Disease (Nov.)]
DO Cross reference
- X-linked Alport syndrome [DO Concept]
False automatic mappings
- Austria [NCIt concept]
Genes related to phenotype
- Collagen, type iv, alpha-5 [OMIM gene]
HPO term(s)
- Anterior lenticonus [HPO term]
- Corneal erosion [HPO term]
- Developmental cataract [HPO term]
- Diffuse leiomyomatosis [HPO term]
- Glomerular basement membrane lamellation [HPO term]
- Heterogeneous [HPO term]
- Hypertension [HPO term]
- Hypoparathyroidism [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Lenticonus [HPO term]
- Microscopic hematuria [HPO term]
- Myopia [HPO term]
- Nephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Sensorineural hearing impairment [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened glomerular basement membrane [HPO term]
- Thrombocytopenia [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Alport syndrome [ORDO Disease]
- X-linked Alport syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alport syndrome X-linked (disorder) [SNOMED CT concept]
- X-linked Alport syndrome [ORDO Disease]
- X-linked Alport syndrome [DO Concept]
- alport syndrome, X-Linked [MeSH concept]
- x linked Alport syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Alport syndrome [ORDO Disease]

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