Muscular dystrophy, congenital merosin-deficient, 1a

Preferred Label : Muscular dystrophy, congenital merosin-deficient, 1a;

Symbol : MDC1A;

CISMeF acronym : MDC1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital merosin-deficient;

Included titles and symbols : Muscular dystrophy, congenital, due to partial lama2 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laminin alpha-2 chain gene (LAMA2, 156225.0001);

Laboratory abnormalities : Increased creatine kinase;

Prefixed ID : #607855;

Details

Origin ID

607855;

UMLS CUI

C1263858;

Automatic exact mappings (from CISMeF team)
- Merosin or laminin alpha 2 chain deficiency [ICD-11 More detail]
- muscular dystrophy, congenital, due to partial LAMA2 deficiency [MeSH concept]
- muscular dystrophy, congenital, due to partial LAMA2 deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Merosin deficient congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Merosin-Deficient Congenital Muscular Dystrophy Type 1A [NCIt concept]
- Muscular dystrophy congenital, merosin negative [MeSH concept]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]
- muscular dystrophy congenital, merosin negative [MeSH Supplementary Concept]
DO Cross reference
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
Genes related to phenotype
- Laminin, alpha-2 [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Hypointensity of cerebral white matter on MRI [HPO term]
- Hypotonia [HPO term]
- Increased endomysial connective tissue [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle weakness [HPO term]
- Muscle weakness, severe [HPO term]
- Muscular dystrophy, congenital [HPO term]
- Ophthalmoplegia [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Merosin deficient congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Merosin-Deficient Congenital Muscular Dystrophy Type 1A [NCIt concept]
- Muscular dystrophy congenital, merosin negative [MeSH concept]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congenital muscular dystrophy type 1A [Disease (Nov.)]
- muscular dystrophy congenital, merosin negative [MeSH Supplementary Concept]

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