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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301500
http://purl.bioontology.org/ontology/OMIM/301500
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|---|---|
| Preferred Name | FABRY DISEASE |
| Synonyms |
GLA DEFICIENCY
FABRY DISEASE, CARDIAC VARIANT
HEREDITARY DYSTOPIC LIPIDOSIS
ANGIOKERATOMA CORPORIS DIFFUSUM
ANDERSON-FABRY DISEASE
CERAMIDE TRIHEXOSIDASE DEFICIENCY
ALPHA-GALACTOSIDASE A DEFICIENCY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLA DEFICIENCY
FABRY DISEASE, CARDIAC VARIANT
HEREDITARY DYSTOPIC LIPIDOSIS
ANGIOKERATOMA CORPORIS DIFFUSUM
ANDERSON-FABRY DISEASE
CERAMIDE TRIHEXOSIDASE DEFICIENCY
ALPHA-GALACTOSIDASE A DEFICIENCY
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|---|---|
| prefLabel | FABRY DISEASE
|
| Gene Symbol | GLA
|
| Scope Statement | Female carriers experience significant clinical manifestations [MISCELLANEOUS]
Occurs in at least 1 in 55,000 male births (that figure may not include milder variants) [MISCELLANEOUS]
Caused by mutation in alpha-galactosidase A gene (GLA, 300644.0001) [MOLECULAR BASIS]
Onset usually in childhood or adolescence [MISCELLANEOUS]
Atypical affected males, 'cardiac variants' 301500.0005 exist [MISCELLANEOUS]
Death secondary to renal failure, cardiac or cerebrovascular disease [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | Xq22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 301500
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0002986
C5960004
C1970820
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |