loading...| Preferred Name | ALPORT SYNDROME 1, X-LINKED | |
| Synonyms |
ATS ATS1 NEPHROPATHY AND DEAFNESS, X-LINKED |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/301050 |
|
| altLabel |
ATS ATS1 NEPHROPATHY AND DEAFNESS, X-LINKED |
|
| cui |
C1567742 C4746986 |
|
| Gene Locus |
Xq22.3 |
|
| Gene Symbol |
COL4A5 ATS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU036383 http://purl.bioontology.org/ontology/OMIM/MTHU030626 http://purl.bioontology.org/ontology/OMIM/MTHU031642 http://purl.bioontology.org/ontology/OMIM/MTHU002179 http://purl.bioontology.org/ontology/OMIM/MTHU030629 http://purl.bioontology.org/ontology/OMIM/MTHU030627 http://purl.bioontology.org/ontology/OMIM/MTHU030628 http://purl.bioontology.org/ontology/OMIM/MTHU031645 http://purl.bioontology.org/ontology/OMIM/MTHU031644 http://purl.bioontology.org/ontology/OMIM/MTHU030624 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU031643 http://purl.bioontology.org/ontology/OMIM/MTHU030632 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
301050 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ALPORT SYNDROME 1, X-LINKED |
|
| 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] |
|
| tui |
T047 |