Spastic paraplegia 18b, autosomal recessive

Preferred Label : Spastic paraplegia 18b, autosomal recessive;

Symbol : SPG18B;

CISMeF acronym : IDMDC; SPG18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IDMDC; Intellectual disability, motor dysfunction, and joint contractures; SPG18; Spastic paraplegia 18, autosomal recessive;

Description : Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the endoplasmic reticulum lipid raft-associated protein 2 gene (ERLIN2, 611605.0001);

Prefixed ID : #611225;

Details

Origin ID

611225;

UMLS CUI

C2749936;

Automatic exact mappings (from CISMeF team)
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome [ORDO Disease]
- symbol withdrawn SPG18 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 18 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 18 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 18 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 18 [DO Concept]
- spastic paraplegia 18, autosomal recessive [MeSH concept]
- spastic paraplegia 18, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 18 [DO Concept]
Genes related to phenotype
- Endoplasmic reticulum lipid raft-associated protein 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Delayed ability to walk [HPO term]
- Gait disturbance [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Strabismus [HPO term]
- Upper limb spasticity [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 18 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 18 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 18 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 18 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 18 [DO Concept]
- spastic paraplegia 18, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 18, autosomal recessive [MeSH concept]

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