Spastic paraplegia 50, autosomal recessive

Preferred Label : Spastic paraplegia 50, autosomal recessive;

Symbol : SPG50;

CISMeF acronym : CPSQ3; SPG50;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral palsy, spastic quadriplegic, 3; CPSQ3;

Description : Spastic paraplegia-50 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 Verkerk et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 4, MU-1 subunit gene (AP4M1, 602296.0001);

Prefixed ID : #612936;

Details

Origin ID

612936;

UMLS CUI

C2752008;

Automatic exact mappings (from CISMeF team)
- adaptor related protein complex 4 subunit mu 1 [ORDO Gene]
- adaptor related protein complex 4 subunit mu 1 [HGNC gene]
- spastic Paraplegia-50, autosomal recessive [MeSH concept]
Currated CISMeF NLP mapping
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Severe intellectual disability and progressive spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic Paraplegia 50 [NCIt concept]
- hereditary spastic paraplegia 50 [DO Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 50 [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 4, mu-1 subunit [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbous nose [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral palsy [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Drooling [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Onset in utero [HPO term]
- Prominent jaw [HPO term]
- Pseudobulbar signs [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- Wide nasal ridge [HPO term]
Matching ORDO disease(s)
- Inherited congenital spastic tetraplegia [ORDO Disease]
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)
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Spastic Paraplegia 50 [NCIt concept]
- hereditary spastic paraplegia 50 [DO Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH concept]

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