Myopathy, distal, tateyama type - CISMeF

" /> Myopathy, distal, tateyama type - CISMeF

CISMeF

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Myopathy, distal, tateyama typeOMIM Phenotype

Preferred Label : Myopathy, distal, tateyama type;

Symbol : MPDT;

CISMeF acronym : MPDT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caveolin 3 gene (CAV3, 601253.0007);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #614321;

Details

Origin ID

614321;

UMLS CUI

C3280443;

CISMeF manual mappings
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]
- Distal myopathy, Tateyama type [ORDO Disease]
DO Cross reference
- distal muscular dystrophy Tateyama type [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Neck muscle weakness [HPO term]
- Pes cavus [HPO term]
ORDO concept(s)
- Distal myopathy, Tateyama type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
28/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.

" /> Myopathy, distal, tateyama type - CISMeF

CISMeF

chu

Myopathy, distal, tateyama typeOMIM Phenotype

Preferred Label : Myopathy, distal, tateyama type;

Symbol : MPDT;

CISMeF acronym : MPDT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caveolin 3 gene (CAV3, 601253.0007);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #614321;

Details

Origin ID

614321;

UMLS CUI

C3280443;

CISMeF manual mappings
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]
- Distal myopathy, Tateyama type [ORDO Disease]
DO Cross reference
- distal muscular dystrophy Tateyama type [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Neck muscle weakness [HPO term]
- Pes cavus [HPO term]
ORDO concept(s)
- Distal myopathy, Tateyama type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Caveolin 3 related distal myopathy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
28/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.