Amyotrophic lateral sclerosis 21

Preferred Label : Amyotrophic lateral sclerosis 21;

Symbol : ALS21;

CISMeF acronym : ALS21; MPD2; VCPDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VCPDM; Myopathy, distal, 2; Vocal cord and pharyngeal dysfunction with distal myopathy; MPD2; Multisystem proteinopathy 5; MSP5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the matrin-3 gene (MATR3, 164017.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #606070;

Details

Origin ID

606070;

UMLS CUI

C3807521;

Automatic exact mappings (from CISMeF team)
- Amyotrophic Lateral Sclerosis 21 [NCIt concept]
- MATR3 wt Allele [NCIt concept]
- Vocal cord and pharyngeal distal myopathy [ORDO Disease]
- amyotrophic lateral sclerosis type 21 [DO Concept]
- matrin 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Distal myopathy 2 (disorder) [SNOMED CT concept]
- distal myopathy 2 [Disease (Nov.)]
- myopathy, distal 2 [MeSH concept]
- myopathy, distal 2 [MeSH Supplementary Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 21 [DO Concept]
Genes related to phenotype
- Matrin 3 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Adult onset [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Aspiration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bowing of the vocal cords [HPO term]
- Bulbar palsy [HPO term]
- Bulbar signs [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Dementia [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Genu varus [HPO term]
- Hand muscle weakness [HPO term]
- Hoarse voice [HPO term]
- Hyperreflexia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Rimmed vacuoles [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Vocal cord and pharyngeal distal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 21 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients