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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614298
http://purl.bioontology.org/ontology/OMIM/614298
|
|---|---|
| Preferred Name | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 |
| Synonyms |
MPAN
MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
NBIA4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MPAN
MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
NBIA4
|
|---|---|
| prefLabel | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
|
| Gene Symbol |
C19orf12
SPG43
NBIA4
|
| Scope Statement | De novo heterozygous mutation in exon 3 follow autosomal dominant inheritance [MISCELLANEOUS]
Onset usually in first decade [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Caused by mutation in the chromosome 19 open reading frame 12 gene (C19ORF12, 614297.0001) [MOLECULAR BASIS]
Some patients may become wheelchair-bound [MISCELLANEOUS]
Later onset has been reported [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614298
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280371
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |