Amyotrophic lateral sclerosis 5, juvenile

Preferred Label : Amyotrophic lateral sclerosis 5, juvenile;

Symbol : ALS5;

CISMeF acronym : ALS5;

Type : Phenotype, molecular basis known;

Description : For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400). Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain and spinal cord, resulting in fatal paralysis (summary by Hentati et al., 1998).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the spatacsin gene (SPG11, 610844.0003);

Prefixed ID : #602099;

Details

Origin ID

602099;

UMLS CUI

C1865864;

Automatic exact mappings (from CISMeF team)
- amyotrophic lateral sclerosis type 5 [DO Concept]
- symbol withdrawn ALS5 [HGNC gene]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- amyotrophic lateral sclerosis 5 [MeSH concept]
- amyotrophic lateral sclerosis 5 [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 5 [DO Concept]
Genes related to phenotype
- Spg11 vesicle trafficking associated, spatacsin [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbar signs [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Fasciculations [HPO term]
- Hyperreflexia [HPO term]
- Juvenile onset [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
Not associated HPO term(s)
- Cognitive impairment [HPO term]
ORDO concept(s)
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amyotrophic lateral sclerosis 5 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 5 [MeSH concept]
Validated automatic mappings to NTBT
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

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