Spastic paraplegia 24, autosomal recessive

Preferred Label : Spastic paraplegia 24, autosomal recessive;

Symbol : SPG24;

CISMeF acronym : SPG24;

Type : Phenotype or locus, molecular basis unknown;

Description : Hodgkinson et al. (2002) reported a consanguineous Saudi Arabian family in which 5 sibs had spastic paraplegia. The paraplegic phenotype was first observed at about 1 year of age when affected individuals started to stand. Later characteristics included a tendency to walk on tiptoes, spasticity, scissoring gait, clonus, and hyperreflexia. Genome scan analysis showed linkage of the paraplegia to a 1.8-Mb region of chromosome 13q14 flanked by FLJ11712 and D13S270. Three of the affected individuals and 2 unaffected individuals had sensorineural deafness, which was found to segregate as an independent trait. *FIELD* RF 1. Hodgkinson, C. A.; Bohlega, S.; Abu-Amero, S. N.; Cupler, E.; Kambouris, M.; Meyer, B. F.; Bharucha, V. A.: A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59: 1905-1909, 2002. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %607584;

Details

Origin ID

607584;

UMLS CUI

C1843569;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 24 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 24 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 24 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 24 [DO Concept]
- spastic paraplegia 24 [MeSH Supplementary Concept]
- spastic paraplegia 24, autosomal recessive [MeSH concept]
- spastic paraplegia 24, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 24 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Clonus [HPO term]
- Difficulty standing [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Tip-toe gait [HPO term]
- Walking on tiptoes [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 24 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 24 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 24 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 24 (disorder) [SNOMED CT concept]
- spastic paraplegia 24, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 24, autosomal recessive [MeSH concept]

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