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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/203700
http://purl.bioontology.org/ontology/OMIM/203700
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) |
| Synonyms |
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
ALPERS SYNDROME
MTDPS4A
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
PNDC
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE
ALPERS-HUTTENLOCHER SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
ALPERS SYNDROME
MTDPS4A
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
PNDC
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE
ALPERS-HUTTENLOCHER SYNDROME
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|---|---|
| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
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| Gene Symbol |
MIRAS
POLG
POLG1
SCAE
POLGA
MTDPS4A
PEO
MTDPS4B
SANDO
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| Scope Statement | Onset in infancy after normal birth and neonatal period [MISCELLANEOUS]
Later onset (late childhood to young adult) has been reported [MISCELLANEOUS]
Rapidly progressive [MISCELLANEOUS]
Increased sensitivity to valproic acid toxicity [MISCELLANEOUS]
Death usually by age 3 years [MISCELLANEOUS]
Caused by mutation in the nuclear-encoded mitochondrial DNA polymerase-gamma gene (POLG, 174763.0008) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 15q25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 203700
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0205710
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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 |