Spastic paraplegia 47, autosomal recessive

Preferred Label : Spastic paraplegia 47, autosomal recessive;

Symbol : SPG47;

CISMeF acronym : CPSQ5; SPG47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral palsy, spastic quadriplegic, 5; CPSQ5;

Description : Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 4, beta-1 subunit gene (AP4B1, 607245.0001);

Prefixed ID : #614066;

Details

Origin ID

614066;

UMLS CUI

C3279738;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn SPG47 [HGNC gene]
Currated CISMeF NLP mapping
- Spastic Paraplegia 47 [NCIt concept]
- hereditary spastic paraplegia 47 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 47 [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 4, beta-1 subunit [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Acetabular dysplasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbous nose [HPO term]
- Coarse facial features [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Flexion contracture [HPO term]
- Genu recurvatum [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Pes planus [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
- Waddling gait [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)
- Spastic Paraplegia 47 [NCIt concept]
- hereditary spastic paraplegia 47 [DO Concept]
Validated automatic mappings to NTBT
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]

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