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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618416
http://purl.bioontology.org/ontology/OMIM/618416
|
|---|---|
| Preferred Name | METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION |
| Synonyms |
MECREN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MECREN
|
|---|---|
| prefLabel | METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
|
| Gene Symbol |
MECREN
SLC25A42
|
| Scope Statement | Onset in the first decade [MISCELLANEOUS]
Caused by mutation in the solute carrier family 25, member 42 gene (SLC25A42, 610823.0001) [MOLECULAR BASIS]
Acute metabolic decompensation associated with fever, infection, or stress [MISCELLANEOUS]
Highly variable phenotype, even within families [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19p13.11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618416
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193083
|
| 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 |