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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620300
http://purl.bioontology.org/ontology/OMIM/620300
|
|---|---|
| Preferred Name | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 |
| Synonyms |
MTPD2
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MTPD2
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY
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|---|---|
| prefLabel | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
|
| Gene Symbol |
HADHB
MTPD2
|
| Scope Statement | Childhood or adolescent onset, protracted, with myopathy and neuropathy [MISCELLANEOUS]
Caused by mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB, 143450.0001) [MOLECULAR BASIS]
Three major clinical forms are apparent [MISCELLANEOUS]
Symptoms may be aggravated by acute illness [MISCELLANEOUS]
Rapidly progressive neonatal onset with early death [MISCELLANEOUS]
Infantile onset with hepatic involvement [MISCELLANEOUS]
Many patients die from heart failure [MISCELLANEOUS]
Sudden infant death may occur [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 2p23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 620300
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5830693
C5830374
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |