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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/219800
http://purl.bioontology.org/ontology/OMIM/219800
|
|---|---|
| Preferred Name | CYSTINOSIS, NEPHROPATHIC |
| Synonyms |
CYSTINOSIS, ATYPICAL NEPHROPATHIC
LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
CTNS
CYSTINOSIS, INFANTILE NEPHROPATHIC
CYSTINOSIN, DEFECT OF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CYSTINOSIS, ATYPICAL NEPHROPATHIC
LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
CTNS
CYSTINOSIS, INFANTILE NEPHROPATHIC
CYSTINOSIN, DEFECT OF
|
|---|---|
| prefLabel |
CYSTINOSIS, NEPHROPATHIC
|
| Gene Symbol |
CTNS
|
| notation |
219800
|
| Scope Statement |
Incidence 1/100,000 - 1/200,000 live births [MISCELLANEOUS]
Three types of cystinosis are recognized - (1) infantile nephropathic (219800), (2) juvenile or adolescent nephropathic (219900), (3) adult nonnephropathic (219750) [MISCELLANEOUS]
Male infertility [MISCELLANEOUS]
Caused by mutation in the cystinosin gene (CTNS, 606272.0001) [MOLECULAR BASIS]
Presentation in first year of life [MISCELLANEOUS]
|
| 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 |
17p13
|
| tui |
T047
|
| cui |
C2931187
C3537440
C2749685
C4316899
|
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