Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2

Preferred Label : Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2;

Symbol : IBMPFD2;

CISMeF acronym : IBMPFD2; MSP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multisystem proteinopathy 2; MSP2;

Prefixed ID : #615422;

Details

Origin ID

615422;

UMLS CUI

C3809468;

Automatic exact mappings (from CISMeF team)
- HNRNPA2B1 wt Allele [NCIt concept]
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 [DO Concept]
DO Cross reference
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 [DO Concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein a2/b1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Cognitive impairment [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Frontotemporal dementia [HPO term]
- Muscle fiber atrophy [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Myositis [HPO term]
- Rimmed vacuoles [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]

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