Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3

Preferred Label : Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3;

Symbol : IBMPFD3;

CISMeF acronym : IBMPFD3; MSP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MSP3; Multisystem proteinopathy 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heterogeneous nuclear ribonucleoprotein A1 gene (HNRNPA1, 164017.0001);

Laboratory abnormalities : Elevated serum creatine kinase (up to 7 times normal limit); Elevated alkaline phosphatase (up to 8 times normal limit in most patients);

Prefixed ID : #615424;

Details

Origin ID

615424;

UMLS CUI

C3809469;

Automatic exact mappings (from CISMeF team)
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 [DO Concept]
DO Cross reference
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 [DO Concept]
Genes related to phenotype
- Heterogeneous nuclear ribonucleoprotein a1 [OMIM gene]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Increased endomysial connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Loss of ambulation [HPO term]
- Middle age onset [HPO term]
- Muscle fiber inclusion bodies [HPO term]
- Myopathy [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Rimmed vacuoles [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
See also inter- (CISMeF)
- HNRNPA1 wt Allele [NCIt concept]
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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