Amyotrophic lateral sclerosis 4, juvenile

Preferred Label : Amyotrophic lateral sclerosis 4, juvenile;

Symbol : ALS4;

CISMeF acronym : ALS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuronopathy, distal hereditary motor, with pyramidal features;

Description : Childhood- and adolescent-onset forms of familial ALS (see ALS1, 105400) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (205100) and ALS5 (602099).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the senataxin gene (SETX, 608465.00006);

Prefixed ID : #602433;

Details

Origin ID

602433;

UMLS CUI

C1865409;

Automatic exact mappings (from CISMeF team)
- ALS4 gene [LOINC component]
- Amyotrophic lateral sclerosis type 4 [ORDO Disease]
- SETX wt Allele [NCIt concept]
- amyotrophic lateral sclerosis type 4 [DO Concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- amyotrophic lateral sclerosis 4, juvenile [MeSH concept]
- amyotrophic lateral sclerosis 4, juvenile [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 4 [DO Concept]
Genes related to phenotype
- Senataxin [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Adolescent onset [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Atrophy of the spinal cord [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration [HPO term]
- Babinski sign [HPO term]
- Clonus [HPO term]
- Decreased compound muscle action potential amplitude [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Difficulty walking [HPO term]
- Diffuse axonal swelling [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- EMG: positive sharp waves [HPO term]
- Hyperreflexia [HPO term]
- Juvenile onset [HPO term]
- Muscle fibrillation [HPO term]
- Pallor of dorsal columns of the spinal cord [HPO term]
- Peripheral axonal degeneration [HPO term]
- Slowly progressive [HPO term]
- Weakness [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic lateral sclerosis type 4 [ORDO Disease]
- Amyotrophic lateral sclerosis type 4 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 4, juvenile [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 4, juvenile [MeSH concept]
Validated automatic mappings to NTBT
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]

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