Nemaline myopathy 2

Preferred Label : Nemaline myopathy 2;

Symbol : NEM2;

CISMeF acronym : NEM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nebulin gene (NEB, 161650.0001);

Laboratory abnormalities : Normal or mildly increased serum creatine kinase;

Prefixed ID : #256030;

Details

Origin ID

256030;

UMLS CUI

C1850569;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2 [ICD-11 More detail]
Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Nemaline Myopathy 2 [NCIt concept]
- Nemaline Myopathy 2 [MeSH concept]
- nemaline myopathy 2 [DO Concept]
- nemaline myopathy 2 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 2 [DO Concept]
Genes related to phenotype
- Nebulin [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the eye [HPO term]
- Absence of spontaneous respiration [HPO term]
- Apnea [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Calf muscle pseudohypertrophy [HPO term]
- Cleft palate [HPO term]
- Congenital contracture [HPO term]
- Decreased fetal movement [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness occurs later [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG shows myopathic changes early in disease [HPO term]
- EMG: myopathic abnormalities [HPO term]
- EMG: neuropathic changes [HPO term]
- Easy fatigability [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Frequent falls [HPO term]
- Gait disturbance [HPO term]
- Generalized muscle weakness [HPO term]
- Hand clenching [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hyporeflexia [HPO term]
- Inability to walk [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Late-onset distal muscle weakness [HPO term]
- Limb muscle weakness [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Mitochondrial depletion [HPO term]
- Motor delay [HPO term]
- Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes [HPO term]
- Muscle fiber splitting [HPO term]
- Myopathic facies [HPO term]
- Narrow mouth [HPO term]
- Neck flexor weakness [HPO term]
- Nemaline bodies [HPO term]
- Neonatal hypotonia [HPO term]
- Polyhydramnios [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Scoliosis [HPO term]
- Severe arthrogryposis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slender build [HPO term]
- Spinal rigidity [HPO term]
- Steppage gait [HPO term]
- Sternocleidomastoid amyotrophy [HPO term]
- Talipes [HPO term]
- Thenar muscle atrophy [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Waddling gait [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Childhood-onset nemaline myopathy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
- Severe congenital nemaline myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline Myopathy 2 [MeSH concept]
- Nemaline Myopathy 2 [NCIt concept]
- nemaline myopathy 2 [MeSH Supplementary Concept]
- nemaline myopathy 2 [DO Concept]

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