Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum

Preferred Label : Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum;

Symbol : SPG56;

CISMeF acronym : SPG56;

Type : Phenotype, molecular basis known;

Description : SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, family 2, subfamily U, polypeptide 1 gene (CYP2U1, 610670.0001);

Prefixed ID : #615030;

Details

Origin ID

615030;

UMLS CUI

C3539507;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn SPG56 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 56 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 56 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 56 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 56 [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 2, subfamily u, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Basal ganglia calcification [HPO term]
- Childhood onset [HPO term]
- Cognitive impairment [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Dystonia [HPO term]
- Hyperreflexia in upper limbs [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Lower limb hyperreflexia [HPO term]
- Motor delay [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Spastic paraplegia [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 56 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 56 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 56 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 56 [NCIt concept]
- hereditary spastic paraplegia 56 [DO Concept]

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