Nemaline myopathy 5a, autosomal recessive, severe infantile

Preferred Label : Nemaline myopathy 5a, autosomal recessive, severe infantile;

Symbol : NEM5A;

CISMeF acronym : ANM; NEM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ANM; Amish nemaline myopathy; Nemaline myopathy, amish type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the troponin T1 gene (TNNT1, 191041.0001);

Prefixed ID : #605355;

Détails

Origin ID

605355;

UMLS CUI

C1854380;

Automatic exact mappings (from CISMeF team)
- 1-[4-(phenylamino)naphthyl]-1h-pyrrole-2,5-dione [Substance BNPC]
- 1-azidonaphthalene-5-sulfonate [MeSH concept]
- 1-azidonaphthalene-5-sulfonate [MeSH Supplementary Concept]
- N-(1-anilinonaphthalyl)-4-maleimide [MeSH concept]
- N-(1-anilinonaphthalyl)-4-maleimide [MeSH Supplementary Concept]
- troponin T1, slow skeletal type [ORDO Gene]
- troponin T1, slow skeletal type [HGNC gene]
Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Amish nemaline myopathy [ICD-11 More detail]
- Amish nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5 [MeSH concept]
- nemaline myopathy 5 [DO Concept]
- nemaline myopathy 5 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 5 [DO Concept]
Genes related to phenotype
- Troponin t1, skeletal, slow [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased hip abduction [HPO term]
- Delayed gross motor development [HPO term]
- Hip contracture [HPO term]
- Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes [HPO term]
- Myopathy [HPO term]
- Nemaline bodies [HPO term]
- Neonatal onset [HPO term]
- Pectus carinatum [HPO term]
- Pectus carinatum, severe [HPO term]
- Progressive muscle weakness [HPO term]
- Proximal amyotrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Shoulder flexion contracture [HPO term]
- Tremor [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Z-band streaming [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Amish nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish nemaline myopathy [ORDO Disease]
- Amish nemaline myopathy [ICD-11 More detail]
- Amish nemaline myopathy (disorder) [SNOMED CT concept]
- Nemaline myopathy 5 [MeSH concept]
- nemaline myopathy 5 [MeSH Supplementary Concept]
- nemaline myopathy 5 [DO Concept]

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