Spastic paraplegia and psychomotor retardation with or without seizures

Preferred Label : Spastic paraplegia and psychomotor retardation with or without seizures;

Symbol : SPPRS;

CISMeF acronym : SPPRS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase-1 gene (HACE1, 610876.0001);

Prefixed ID : #616756;

Details

Origin ID

616756;

UMLS CUI

C4225215;

Automatic exact mappings (from CISMeF team)
- Spastic paraplegia-severe developmental delay-epilepsy syndrome [ORDO Disease]
Genes related to phenotype
- Hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lower limb spasticity [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microcephaly [HPO term]
- Myopia [HPO term]
- Obesity [HPO term]
- Retinal dystrophy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Spastic paraplegia-severe developmental delay-epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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