Spastic paralysis, infantile-onset ascending

Preferred Label : Spastic paralysis, infantile-onset ascending;

Symbol : IAHSP;

CISMeF acronym : IAHSP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, 606352.0005);

Prefixed ID : #607225;

Détails

Origin ID

607225;

UMLS CUI

C2931441;

Currated CISMeF NLP mapping
- Infantile ascending hereditary spastic paralysis (disorder) [SNOMED CT concept]
- Infantile-onset ascending hereditary spastic paralysis [ORDO Disease]
- hereditary spastic paralysis, infantile onset ascending [MeSH concept]
- hereditary spastic paralysis, infantile onset ascending [MeSH Supplementary Concept]
Genes related to phenotype
- Alsin rho guanine nucleotide exchange factor als2 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the face [HPO term]
- Achilles tendon contracture [HPO term]
- Adolescent onset [HPO term]
- Anarthria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Early involvement of the corticospinal pathways [HPO term]
- Hyperreflexia [HPO term]
- Impaired mastication [HPO term]
- Infantile onset [HPO term]
- Morphological abnormality of the corticospinal tract [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Slow saccadic eye movements [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Spastic paraplegia, lower limb [HPO term]
- Spastic tetraplegia [HPO term]
- Tetraplegia [HPO term]
- Urinary incontinence [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Infantile-onset ascending hereditary spastic paralysis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile ascending hereditary spastic paralysis (disorder) [SNOMED CT concept]
- Infantile-onset ascending hereditary spastic paralysis [ORDO Disease]
- hereditary spastic paralysis, infantile onset ascending [MeSH Supplementary Concept]
- hereditary spastic paralysis, infantile onset ascending [MeSH concept]

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