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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621254
http://purl.bioontology.org/ontology/OMIM/621254
|
|---|---|
| Preferred Name | IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY |
| Synonyms |
IMD133
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMD133
|
|---|---|
| prefLabel | IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY
|
| Gene Symbol |
ITPR3
IMD133
CMT1J
|
| Scope Statement | Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 3 gene (ITPR3, 147267.0003) [MOLECULAR BASIS]
Ectodermal dysplasia, developmental delay, and peripheral neuropathy are incompletely penetrant [MISCELLANEOUS]
Pleiotropic features [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Onset in infancy or first years of life [MISCELLANEOUS]
Hematopoietic stem cell transplantation is curative for immunodeficiency [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6p21.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621254
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012744
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |