Muscular dystrophy, limb-girdle, autosomal recessive 7

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 7;

Symbol : LGMDR7;

CISMeF acronym : LGMD2G; LGMDR7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2G; Muscular dystrophy, limb-girdle, type 2g;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the telethonin gene (TCAP, 604488.0001).;

Laboratory abnormalities : Increased serum creatine kinase; Creatine kinase levels may normalize with disease progression;

Prefixed ID : #601954;

Details

Origin ID

601954;

UMLS CUI

C1866008;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) [SNOMED CT concept]
- Telethonin-related limb-girdle muscular dystrophy R7 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2G [DO Concept]
- limb girdle muscular dystrophy type 2g [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 2G [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2G [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2G [DO Concept]
Genes related to phenotype
- Titin-cap [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Difficulty walking [HPO term]
- Difficulty walking, running [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal muscle weakness in lower limbs, severe [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Increased connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Proximal muscle weakness in upper limbs [HPO term]
- Proximal upper limb amyotrophy [HPO term]
- Rimmed vacuoles [HPO term]
ORDO concept(s)
- Telethonin-related limb-girdle muscular dystrophy R7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2G (disorder) [SNOMED CT concept]
- Telethonin-related limb-girdle muscular dystrophy R7 [ORDO Disease]
- muscular dystrophy, Limb-Girdle, type 2G [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2G [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients