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Familial infantile bilateral striatal necrosis
2 OMIM references -
3 associated genes
60 connected diseases
No signs/symptoms info
Disease Type of connection
Aicardi-Goutières syndrome
Dyschromatosis symmetrica hereditaria
Leber hereditary optic neuropathy
Maternally-inherited Leigh syndrome
Maternally-inherited spastic paraplegia
NARP syndrome
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pseudohypoaldosteronism type 2E
Herpetic encephalitis
Spinocerebellar ataxia type 7
Primary dystonia, DYT6 type
Peters anomaly
Familial multinodular goiter
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
17q11 microdeletion syndrome
17q21.31 microdeletion syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Angelman syndrome
Autosomal dominant nonsyndromic intellectual deficit
Behavioral variant of frontotemporal dementia
Choroideremia
Craniopharyngioma
Desmoid tumor
Fanconi anemia
Frontotemporal dementia with motor neuron disease
Hepatocellular carcinoma, childhood-onset
Koolen-De Vries syndrome due to a point mutation
Phosphoenolpyruvate carboxykinase 1 deficiency
Pilomatrixoma
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Weaver syndrome
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
Acyl-CoA dehydrogenase 9 deficiency
Isolated NADH-CoQ reductase deficiency
Acute necrotizing encephalopathy of childhood
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Precursor T-cell acute lymphoblastic leukemia
GCS1-CDG
Left ventricular noncompaction
Richieri Costa-Pereira syndrome
Spinocerebellar ataxia type 26
Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ADAR P55265146920
MT-ATP6 P00846516060
NUP62 P37198605815
No signs/symptoms info available.