Muscular dystrophy, limb-girdle, autosomal recessive 21

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 21;

Symbol : LGMDR21;

CISMeF acronym : LGMD2Z; LGMDR21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2Z; Muscular dystrophy, limb-girdle, type 2z;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein O-glucosyltransferase 1 gene (POGLUT1, 615618.0006);

Laboratory abnormalities : Increased serum creatine kinase, mild;

Prefixed ID : #617232;

Details

Origin ID

617232;

UMLS CUI

C4310660;

Currated CISMeF NLP mapping
- Limb-Girdle Muscular Dystrophy Type 2Z [NCIt concept]
- POGLUT1-related limb-girdle muscular dystrophy R21 [ORDO Disease]
- Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2Z [DO Concept]
Genes related to phenotype
- Protein o-glucosyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Respiratory insufficiency [HPO term]
- Scapular winging [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- POGLUT1-related limb-girdle muscular dystrophy R21 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Limb-Girdle Muscular Dystrophy Type 2Z [NCIt concept]
- Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) [SNOMED CT concept]

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