Spastic paraplegia 51, autosomal recessive

Preferred Label : Spastic paraplegia 51, autosomal recessive;

Symbol : SPG51;

CISMeF acronym : CPSQ4; SPG51;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPSQ4; Cerebral palsy, spastic quadriplegic, 4;

Description : Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene (AP4E1, 607244.0001);

Prefixed ID : #613744;

Details

Origin ID

613744;

UMLS CUI

C3151056;

Automatic exact mappings (from CISMeF team)
- adaptor related protein complex 4 subunit epsilon 1 [ORDO Gene]
- adaptor related protein complex 4 subunit epsilon 1 [HGNC gene]
Currated CISMeF NLP mapping
- hereditary spastic paraplegia 51 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 51 [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 4, epsilon-1 subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Decreased muscle mass [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Facial hypotonia [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability, severe [HPO term]
- Long nose [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Pointed chin [HPO term]
- Prominent antihelix [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary spastic paraplegia 51 [DO Concept]
Validated automatic mappings to NTBT
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]

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