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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616457
http://purl.bioontology.org/ontology/OMIM/616457
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 |
| Synonyms |
EIEE50
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY
DEE50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
CDG1Z, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EIEE50
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY
DEE50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
CDG1Z, FORMERLY
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
|
| Gene Symbol |
CAD
DEE50
CDG1Z
|
| Scope Statement | Onset in infancy (up to 2 years) [MISCELLANEOUS]
Favorable response to treatment with oral uridine [MISCELLANEOUS]
Death in early childhood may occur [MISCELLANEOUS]
Caused by mutation in the carbamoyl phosphate synthetase/aspartate transcarbamoylase/dihydroorotase gene (CAD, 114010.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616457
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225320
|
| 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 |