Muscular dystrophy, limb-girdle, autosomal recessive 23

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 23;

Symbol : LGMDR23;

CISMeF acronym : LGMDR23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laminin alpha-2 gene (LAMA2, 156225.0016);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #618138;

Details

Origin ID

618138;

UMLS CUI

C4748327;

Genes related to phenotype
- Laminin, alpha-2 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Calf muscle hypertrophy [HPO term]
- Childhood onset [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Gowers sign [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Internally nucleated skeletal muscle fibers [HPO term]
- Juvenile onset [HPO term]
- Kyphosis [HPO term]
- Motor delay [HPO term]
- Neck flexor weakness [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Proximal muscle weakness in upper limbs [HPO term]
- Seizure [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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