Alport syndrome 3a, autosomal dominant

Preferred Label : Alport syndrome 3a, autosomal dominant;

Symbol : ATS3A;

CISMeF acronym : ATS3;

Type : Phenotype, molecular basis known;

Description : Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (203780); autosomal dominant inheritance is rare (van der Loop et al., 2000). Also see benign familial hematuria (BFH; 141200), a similar but milder disorder also caused by mutation in the COL4A3 gene. An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (153640), is caused by mutation in the MYH9 gene (160775) on chromosome 22q11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A3, 120070.0009);

Laboratory abnormalities : Hematuria, gross and microscopic; Proteinuria;

Prefixed ID : #104200;

Details

Origin ID

104200;

UMLS CUI

C5882663;

Automatic exact mappings (from CISMeF team)
- Alport syndrome, autosomal dominant [ICD-11 More detail]
- nephritis, hereditary [MeSH Descriptor]
Broader ORDO disease(s)
- Alport syndrome [ORDO Disease]
CISMeF manual mappings
- Alport syndrome autosomal dominant (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alport syndrome, dominant type [MeSH concept]
- Autosomal dominant Alport syndrome [ORDO Disease]
- alport syndrome, autosomal dominant [MeSH concept]
- alport syndrome, dominant type [MeSH Supplementary Concept]
- autosomal dominant Alport syndrome [DO Concept]
DO Cross reference
- autosomal dominant Alport syndrome [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-3 [OMIM gene]
HPO term(s)
- Anterior polar cataract [HPO term]
- Autosomal dominant inheritance [HPO term]
- Azotemia [HPO term]
- Glomerular basement membrane lamellation [HPO term]
- Glomerulonephritis [HPO term]
- Hematuria [HPO term]
- Hypertension [HPO term]
- Hypophosphatemia [HPO term]
- Lenticonus [HPO term]
- Myopia [HPO term]
- Nephritis [HPO term]
- Nephrocalcinosis [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]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Alport syndrome [ORDO Disease]
- Autosomal dominant Alport syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alport syndrome autosomal dominant (disorder) [SNOMED CT concept]
- alport syndrome, autosomal dominant [MeSH concept]
- autosomal dominant Alport syndrome [DO Concept]
Validated automatic mappings to NTBT
- Alport syndrome [ORDO Disease]

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