Muscular dystrophy, limb-girdle, autosomal recessive 8

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 8;

Symbol : LGMDR8;

CISMeF acronym : LGMD2H; LGMDR8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, hutterite type; Sarcotubular myopathy; LGMD2H; Muscular dystrophy, limb-girdle, type 2h;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, 602290.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #254110;

Détails

Origin ID

254110;

UMLS CUI

C0270968;

Automatic exact mappings (from CISMeF team)
- Hutterite type of muscular dystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Limb-girdle muscular dystrophy type 2H [MeSH concept]
- Sarcotubular myopathy [ICD-11 More detail]
- Sarcotubular myopathy (disorder) [SNOMED CT concept]
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
- limb girdle muscular dystrophy type 2h [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2H [MeSH Supplementary Concept]
- sarcotubular myopathy [SNOMED Notion]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
Genes related to phenotype
- Tripartite motif-containing protein 32 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Facial palsy [HPO term]
- Gowers sign [HPO term]
- Hyporeflexia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscular dystrophy [HPO term]
- Neck flexor weakness [HPO term]
- Pelvic girdle muscle atrophy [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Quadriceps muscle weakness [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hutterite type of muscular dystrophy (disorder) [SNOMED CT concept]
- Limb-girdle muscular dystrophy type 2H [MeSH concept]
- Sarcotubular myopathy [ICD-11 More detail]
- Sarcotubular myopathy (disorder) [SNOMED CT concept]
- TRIM32-related limb-girdle muscular dystrophy R8 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2H [DO Concept]
- limb girdle muscular dystrophy type 2h [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2H [MeSH Supplementary Concept]
- sarcotubular myopathy [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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