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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615424
http://purl.bioontology.org/ontology/OMIM/615424
|
|---|---|
| Preferred Name | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 |
| Synonyms |
MULTISYSTEM PROTEINOPATHY 3
IBMPFD3
MSP3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MULTISYSTEM PROTEINOPATHY 3
IBMPFD3
MSP3
|
|---|---|
| prefLabel | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
|
| Gene Symbol |
ALS20
MPD3
IBMPFD3
HNRNPA1
|
| Scope Statement | One family described (last curated October 2013) [MISCELLANEOUS]
Caused by mutation in the heterogeneous nuclear ribonucleoprotein A1 gene (HNRNPA1, 164017.0001) [MOLECULAR BASIS]
Many become wheelchair bound [MISCELLANEOUS]
Onset between 35-43 years of age [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615424
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809469
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |