Spastic paraplegia 5a, autosomal recessive

Preferred Label : Spastic paraplegia 5a, autosomal recessive;

Symbol : SPG5A;

CISMeF acronym : SPG5A;

Type : Phenotype, molecular basis known;

Description : The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur. Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on chromosome 16q23; SPG39 (612020), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, family 7, subfamily B, polypeptide 1 gene (CYP7B1, 603711.0001);

Laboratory abnormalities : Increased plasma and CSF 27-hydroxycholesterol;

Prefixed ID : #270800;

Details

Origin ID

270800;

UMLS CUI

C1849115;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 5A [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 5A [ORDO Disease]
- Autosomal recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic Paraplegia 5A [NCIt concept]
- hereditary spastic paraplegia 5A [DO Concept]
- spastic paraplegia 5A [Disease (Nov.)]
- spastic paraplegia 5a, autosomal recessive [MeSH concept]
- spastic paraplegia 5a, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia type 5A, recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 5A [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 7, subfamily b, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cataract [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hyperreflexia [HPO term]
- Impaired distal proprioception [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Limb dysmetria [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Paraplegia [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 5A [ORDO Disease]
See also inter- (CISMeF)
- CYP7B1 wt Allele [NCIt concept]
- symbol withdrawn SPG5A [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic Paraplegia 5A [NCIt concept]
- spastic paraplegia 5a, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 5a, autosomal recessive [MeSH concept]

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