Amyotrophic lateral sclerosis 16, juvenile

Preferred Label : Amyotrophic lateral sclerosis 16, juvenile;

Symbol : ALS16;

CISMeF acronym : ALS16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sigma nonopioid intracellular receptor 1 gene (SIGMAR1, 601978.0001);

Prefixed ID : #614373;

Details

Origin ID

614373;

UMLS CUI

C3280587;

Automatic exact mappings (from CISMeF team)
- SIGMAR1 wt Allele [NCIt concept]
- amyotrophic lateral sclerosis type 16 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 16 [DO Concept]
Genes related to phenotype
- Sigma nonopioid intracellular receptor 1 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyperreflexia [HPO term]
- Limb muscle weakness [HPO term]
- Muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]

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