Amyotrophic lateral sclerosis 2, juvenile

Preferred Label : Amyotrophic lateral sclerosis 2, juvenile;

Symbol : ALS2;

CISMeF acronym : ALSJ; ALS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Als, juvenile; ALSJ;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, 606352.0001);

Prefixed ID : #205100;

Details

Origin ID

205100;

UMLS CUI

C1859807;

Automatic exact mappings (from CISMeF team)
- ALS2 gene [LOINC component]
- alsin Rho guanine nucleotide exchange factor ALS2 [HGNC gene]
- alsin Rho guanine nucleotide exchange factor ALS2 [ORDO Gene]
- amyotrophic lateral sclerosis type 2 [DO Concept]
Broader ORDO disease(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- Juvenile amyotrophic lateral sclerosis type 2 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 2, juvenile [MeSH concept]
- amyotrophic lateral sclerosis 2, juvenile [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 2 [DO Concept]
Genes related to phenotype
- Alsin rho guanine nucleotide exchange factor als2 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Anarthria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Difficulty in tongue movements [HPO term]
- Distal amyotrophy [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- EMG: chronic denervation signs [HPO term]
- Hand muscle atrophy [HPO term]
- Hyperreflexia [HPO term]
- Lower limb spasticity [HPO term]
- Progressive [HPO term]
- Pseudobulbar behavioral symptoms [HPO term]
- Slowly progressive [HPO term]
- Spastic dysarthria [HPO term]
- Spastic gait [HPO term]
- Spastic tetraparesis [HPO term]
- Spasticity of facial muscles [HPO term]
- Spasticity of pharyngeal muscles [HPO term]
- Upper limb spasticity [HPO term]
Not associated HPO term(s)
- Somatic sensory dysfunction [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 2, juvenile [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 2, juvenile [MeSH concept]
Validated automatic mappings to NTBT
- Juvenile amyotrophic lateral sclerosis [ORDO Disease]

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