Spastic paraplegia 15, autosomal recessive

Preferred Label : Spastic paraplegia 15, autosomal recessive;

Symbol : SPG15;

CISMeF acronym : SPG15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kjellin syndrome; Spastic paraplegia and retinal degeneration;

Description : Spastic paraplegia-15 is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by Goizet et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger FYVE domain-containing protein 26 (ZFYVE26, 612012.0001).;

Prefixed ID : #270700;

Details

Origin ID

270700;

UMLS CUI

C1849128;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 15 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 15 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 15 (disorder) [SNOMED CT concept]
- Spastic paraplegia 15, autosomal recessive [MeSH concept]
- Spastic paraplegia type 15 (disorder) [Inactive SNOMED CT concept]
- hereditary spastic paraplegia 15 [DO Concept]
- spastic paraplegia 15, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 15 [DO Concept]
Genes related to phenotype
- Zinc finger fyve domain-containing protein 26 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bowel incontinence [HPO term]
- Clonus [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Macular degeneration [HPO term]
- Mood swings [HPO term]
- Nystagmus [HPO term]
- Paraplegia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Pigmented macular degeneration [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Reduced visual acuity [HPO term]
- Retinal degeneration [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 15 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 15 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 15 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 15 (disorder) [SNOMED CT concept]
- Spastic paraplegia 15, autosomal recessive [MeSH concept]
- Spastic paraplegia type 15 (disorder) [Inactive SNOMED CT concept]
- hereditary spastic paraplegia 15 [DO Concept]
- spastic paraplegia 15, autosomal recessive [MeSH Supplementary Concept]

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