Nemaline myopathy 7

Preferred Label : Nemaline myopathy 7;

Symbol : NEM7;

CISMeF acronym : NEM7;

Type : Phenotype, molecular basis known;

Description : Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cofilin 2 gene (CFL2, 601443.0001);

Prefixed ID : #610687;

Details

Origin ID

610687;

UMLS CUI

C1853154;

Automatic exact mappings (from CISMeF team)
- cofilin 2 [ORDO Gene]
- cofilin 2 [HGNC gene]
Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- nemaline myopathy 7 [DO Concept]
- nemaline myopathy 7 [MeSH concept]
- nemaline myopathy 7 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 7 [DO Concept]
Genes related to phenotype
- Cofilin 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Breech presentation [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Frequent falls [HPO term]
- Gait disturbance [HPO term]
- Genu recurvatum [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Minicore myopathy [HPO term]
- Muscle fibrillation [HPO term]
- Muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Nemaline bodies [HPO term]
- Pes planus [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Typical nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nemaline myopathy 7 [MeSH Supplementary Concept]
- nemaline myopathy 7 [MeSH concept]
- nemaline myopathy 7 [DO Concept]

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