Striatonigral degeneration, infantile

Preferred Label : Striatonigral degeneration, infantile;

Symbol : SNDI;

CISMeF acronym : IBSN; SNDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bilateral striatal necrosis, infantile; Striatal degeneration, familial; IBSN; Infantile bilateral striatal necrosis;

Description : Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see 500003) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (256000) and certain metabolic disorders, including glutaric acidemia I (231670) and methylmalonic aciduria (251000). See also Aicardi-Goutieres syndrome (225750) (Mito et al., 1986; De Meirleir et al., 1995). See also adult-onset autosomal dominant striatal degeneration (ADSD; 609161), a less severe disorder caused by mutation in the PDE8B gene (603390) on chromosome 5q13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 62-kd nucleoporin gene (NUP62, 605815.0001);

Prefixed ID : #271930;

Details

Origin ID

271930;

UMLS CUI

C0795996;

Automatic exact mappings (from CISMeF team)
- Familial infantile bilateral striatal necrosis [ORDO Disease]
- nucleoporin 62 [ORDO Gene]
- nucleoporin 62 [HGNC gene]
Currated CISMeF NLP mapping
- Infantile bilateral striatal necrosis [ICD-11 More detail]
- Infantile bilateral striatal necrosis [ORDO Disease]
- Infantile striatonigral degeneration (disorder) [SNOMED CT concept]
- Striatonigral degeneration infantile [MeSH concept]
- striatonigral degeneration infantile [MeSH Supplementary Concept]
DO Cross reference
- striatonigral degeneration [DO Concept]
Genes related to phenotype
- Nucleoporin, 62-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Choreoathetosis of the face, trunk, extremities [HPO term]
- Developmental regression [HPO term]
- Developmental stagnation [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Intellectual disability [HPO term]
- Optic atrophy [HPO term]
- Pendular nystagmus [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Familial infantile bilateral striatal necrosis [ORDO Disease]
- Infantile bilateral striatal necrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile bilateral striatal necrosis [ORDO Disease]
- Infantile bilateral striatal necrosis [ICD-11 More detail]
- Infantile striatonigral degeneration (disorder) [SNOMED CT concept]
- Striatonigral degeneration infantile [MeSH concept]
- striatonigral degeneration infantile [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients