Alport syndrome 2, autosomal recessive

Preferred Label : Alport syndrome 2, autosomal recessive;

Symbol : ATS2;

CISMeF acronym : ATS2;

Type : Phenotype, molecular basis known;

Description : Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). 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; autosomal dominant inheritance (104200) is rare (van der Loop et al., 2000). See also benign familial hematuria (BFH; 141200), a similar but milder disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-4 gene (COL4A4, 120131.0001); Caused by mutation in the collagen, type IV, alpha-3 gene (COL4A3, 120070.0001);

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

Prefixed ID : #203780;

Details

Origin ID

203780;

UMLS CUI

C4746745;

Automatic exact mappings (from CISMeF team)
- Alport syndrome, autosomal recessive [ICD-11 More detail]
- nephritis, hereditary [MeSH Descriptor]
Broader ORDO disease(s)
- Alport syndrome [ORDO Disease]
CISMeF manual mappings
- Alport syndrome autosomal recessive (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alport syndrome, recessive type [MeSH concept]
- Autosomal recessive Alport syndrome [ORDO Disease]
- alport syndrome, autosomal recessive [MeSH concept]
- alport syndrome, recessive type [MeSH Supplementary Concept]
- autosomal recessive Alport syndrome [DO Concept]
- autosomal recessive Alport syndrome [Disease (Nov.)]
DO Cross reference
- autosomal recessive Alport syndrome [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-4 [OMIM gene]
HPO term(s)
- Anterior lenticonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Corneal erosion [HPO term]
- Glomerular basement membrane lamellation [HPO term]
- Hearing impairment [HPO term]
- Hematuria [HPO term]
- Heterogeneous [HPO term]
- Hypertension [HPO term]
- Myopia [HPO term]
- Nephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened glomerular basement membrane [HPO term]
ORDO concept(s)
- Alport syndrome [ORDO Disease]
- Autosomal recessive Alport syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alport syndrome autosomal recessive (disorder) [SNOMED CT concept]
- alport syndrome, autosomal recessive [MeSH concept]
- autosomal recessive Alport syndrome [DO Concept]
- autosomal recessive Alport syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Alport syndrome [ORDO Disease]

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