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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/301050
http://purl.bioontology.org/ontology/OMIM/301050
|
|---|---|
| Preferred Name | ALPORT SYNDROME 1, X-LINKED |
| Synonyms |
ATS
ATS1
NEPHROPATHY AND DEAFNESS, X-LINKED
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ATS
ATS1
NEPHROPATHY AND DEAFNESS, X-LINKED
|
|---|---|
| prefLabel | ALPORT SYNDROME 1, X-LINKED
|
| Gene Symbol |
COL4A5
ATS1
|
| notation | 301050
|
| Scope Statement | Caused by mutation in the collagen, type IV, alpha-5 gene (COL4A5, 303630.0001) [MOLECULAR BASIS]
Affected males show onset of hematuria in first year of life [MISCELLANEOUS]
Hearing loss occurs in late childhood [MISCELLANEOUS]
Males more severely affected than females [MISCELLANEOUS]
Estimated gene carrier frequency of 1 in 5,000 [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Female carriers may show intermittent hematuria [MISCELLANEOUS]
About 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis [MISCELLANEOUS]
About 15% of female carriers develop renal insufficiency in the second or third decade [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | Xq22.3
|
| tui | T047
|
| cui |
C1567742
C4746986
|
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