Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1

Preferred Label : Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1;

Symbol : IBMPFD1;

CISMeF acronym : IBMPFD1; MSP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, with paget disease of bone; Pagetoid neuroskeletal syndrome; Multisystem proteinopathy 1; Lower motor neuron degeneration with paget-like bone disease; Pagetoid amyotrophic lateral sclerosis; MSP1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the valosin-containing protein gene (VCP, 601023.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum bone-specific alkaline phosphatase;

Prefixed ID : #167320;

Details

Origin ID

167320;

UMLS CUI

C4551951;

Automatic exact mappings (from CISMeF team)
- merozoite surface protein 1 [MeSH Descriptor]
Currated CISMeF NLP mapping
- Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 [NCIt concept]
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) [SNOMED CT concept]
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH Supplementary Concept]
- inclusion body myopathy with Paget disease and frontotemporal dementia [Disease (Nov.)]
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 [DO Concept]
DO Cross reference
- inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 [DO Concept]
Genes related to phenotype
- Valosin-containing protein [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Dementia [HPO term]
- Difficulty climbing stairs [HPO term]
- Distal amyotrophy [HPO term]
- Dysphasia [HPO term]
- Dystonia [HPO term]
- Elevated alkaline phosphatase of bone origin [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Frontal cortical atrophy [HPO term]
- Frontotemporal dementia [HPO term]
- Gait disturbance [HPO term]
- Hip pain [HPO term]
- Limb muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Myopathy [HPO term]
- Pelvic girdle amyotrophy [HPO term]
- Pelvic girdle muscle atrophy [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Shoulder weakness and atrophy [HPO term]
- Temporal cortical 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]
UMLS correspondences (same concept)
- Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 [NCIt concept]
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) [SNOMED CT concept]
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH Supplementary Concept]
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH concept]
- inclusion body myopathy with Paget disease and frontotemporal dementia [Disease (Nov.)]
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients