Spastic paraplegia 23, autosomal recessive

Preferred Label : Spastic paraplegia 23, autosomal recessive;

Symbol : SPG23;

CISMeF acronym : SPG23;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lison syndrome; Spastic paraplegia with pigmentary abnormalities; Spastic paraparesis, vitiligo, premature graying, characteristic facies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dual serine/threonine and tyrosine protein kinase gene (DSTYK, 612666.0005);

Prefixed ID : #270750;

Détails

Origin ID

270750;

UMLS CUI

C0796019;

Automatic exact mappings (from CISMeF team)
- spastic paraplegia 23 (autosomal recessive) [ORDO Gene]
- symbol withdrawn SPG23 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 23 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 23 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 23 (disorder) [SNOMED CT concept]
- Spastic paraplegia 23 [MeSH concept]
- hereditary spastic paraplegia 23 [DO Concept]
- spastic paraplegia 23 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 23 [DO Concept]
Genes related to phenotype
- Dual serine/threonine and tyrosine protein kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cognitive impairment [HPO term]
- Hyperpigmentation in sun-exposed areas [HPO term]
- Hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow face [HPO term]
- Peripheral neuropathy [HPO term]
- Peripheral neuropathy, mild [HPO term]
- Premature graying of body hair [HPO term]
- Retrognathia [HPO term]
- Spastic paraplegia [HPO term]
- Spastic paraplegia, severe [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 23 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 23 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 23 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 23 (disorder) [SNOMED CT concept]
- Spastic paraplegia 23 [MeSH concept]
- hereditary spastic paraplegia 23 [DO Concept]
- spastic paraplegia 23 [MeSH Supplementary Concept]

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