Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant

Preferred Label : Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant;

Symbol : SMALED2A;

CISMeF acronym : SMALED2; SMALED2A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BICD carbo adaptor 2 gene (BICD2, 609797.0001);

Prefixed ID : #615290;

Details

Origin ID

615290;

UMLS CUI

C4747715;

Automatic exact mappings (from CISMeF team)
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
DO Cross reference
- spinal muscular atrophy with lower extremity predominance 2A [DO Concept]
Genes related to phenotype
- Bicd cargo adaptor 2 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Achilles tendon contracture [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Difficulty running [HPO term]
- Fasciculations [HPO term]
- Gowers sign [HPO term]
- Hip contracture [HPO term]
- Hip dysplasia [HPO term]
- Hyperlordosis [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Knee flexion contracture [HPO term]
- Motor delay [HPO term]
- Scapular winging [HPO term]
- Spasticity [HPO term]
- Spinal muscular atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Variable expressivity [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A [NCIt concept]
Validated automatic mappings to BTNT
- Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A [NCIt concept]

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