Spastic paraplegia, optic atrophy, and neuropathy

Preferred Label : Spastic paraplegia, optic atrophy, and neuropathy;

Symbol : SPOAN;

CISMeF acronym : SPOAN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin light chain 2 gene (KLC2, 611729.0001);

Prefixed ID : #609541;

Détails

Origin ID

609541;

UMLS CUI

C1836010;

Currated CISMeF NLP mapping
- Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) [SNOMED CT concept]
- Spastic paraplegia-optic atrophy-neuropathy syndrome [ORDO Disease]
- spastic paraplegia, optic atrophy, and neuropathy [MeSH concept]
- spastic paraplegia, optic atrophy, and neuropathy [MeSH Supplementary Concept]
DO Cross reference
- SPOAN syndrome [DO Concept]
Genes related to phenotype
- Kinesin light chain 2 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory and motor axonal neuropathy [HPO term]
- Dysarthria [HPO term]
- Exaggerated startle response [HPO term]
- Flexion contracture [HPO term]
- Hyperhidrosis [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Kyphosis [HPO term]
- Motor axonal neuropathy [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic atrophy, congenital [HPO term]
- Optic disc pallor [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Sensory axonal neuropathy [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Spastic paraplegia-optic atrophy-neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) [SNOMED CT concept]
- Spastic paraplegia-optic atrophy-neuropathy syndrome [ORDO Disease]
- spastic paraplegia, optic atrophy, and neuropathy [MeSH Supplementary Concept]
- spastic paraplegia, optic atrophy, and neuropathy [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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