STRIATONIGRAL DEGENERATION, INFANTILE

General Information (adopted from Orphanet):

Synonyms, Signs: STRIATAL DEGENERATION, FAMILIAL
INFANTILE BILATERAL STRIATAL NECROSIS
BILATERAL STRIATAL NECROSIS, INFANTILE
IBSN
SNDI
Number of Symptoms 16
OrphanetNr:
OMIM Id: 271930
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000648) Optic atrophy 238 / 7739
2
(HPO:0012043) Pendular nystagmus 11 / 7739
3
(HPO:0001266) Choreoathetosis 57 / 7739
4
(HPO:0002376) Developmental regression 74 / 7739
5
(HPO:0001270) Motor delay 322 / 7739
6
(HPO:0001257) Spasticity 251 / 7739
7
(HPO:0007281) Developmental stagnation 6 / 7739
8
(HPO:0002015) Dysphagia 301 / 7739
9
(HPO:0001332) Dystonia 197 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0001510) Growth delay 295 / 7739
13
(HPO:0001508) Failure to thrive 454 / 7739
14
(OMIM) Occasional degeneration of the globus pallidus 1 / 7739
15
(OMIM) Choreoathetosis of the face, trunk, extremities 1 / 7739
16
(OMIM) Progressive, symmetric degeneration of the caudate and putamen 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM This rare disorder was probably first described by Paterson and Carmichael (1924) who described patients with choreoathetosis, abnormal eye movements, seizures, and mental retardation. In some patients, the symptoms appeared after a febrile illness associated with nausea and ...
Molecular genetics OMIM In 12 affected individuals from 8 Israel Bedouin families with IBSN, including 6 families described by Straussberg et al. (2002) and Basel-Vanagaite et al. (2004), Basel-Vanagaite et al. (2006) identified a homozygous mutation in the NUP62 gene (Q391P; ...