MCID: FML309
MIFTS: 13

Familial Infantile Bilateral Striatal Necrosis

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Infantile Bilateral Striatal Necrosis

MalaCards integrated aliases for Familial Infantile Bilateral Striatal Necrosis:

Name: Familial Infantile Bilateral Striatal Necrosis 59
Familial Infantile Striatonigral Degeneration 59
Familial Infantile Striatonigral Necrosis 59
Familial Ibsn 59

Characteristics:

Orphanet epidemiological data:

59
familial infantile bilateral striatal necrosis
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA225154
ICD10 via Orphanet 34 G23.2

Summaries for Familial Infantile Bilateral Striatal Necrosis

MalaCards based summary : Familial Infantile Bilateral Striatal Necrosis, also known as familial infantile striatonigral degeneration, is related to striatonigral degeneration, infantile. An important gene associated with Familial Infantile Bilateral Striatal Necrosis is NUP62 (Nucleoporin 62), and among its related pathways/superpathways is Interferon gamma signaling.

Related Diseases for Familial Infantile Bilateral Striatal Necrosis

Diseases in the Familial Bilateral Striatal Necrosis family:

Familial Infantile Bilateral Striatal Necrosis Sporadic Infantile Bilateral Striatal Necrosis

Diseases related to Familial Infantile Bilateral Striatal Necrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 28.4 MT-ATP6 NUP62

Symptoms & Phenotypes for Familial Infantile Bilateral Striatal Necrosis

Drugs & Therapeutics for Familial Infantile Bilateral Striatal Necrosis

Search Clinical Trials , NIH Clinical Center for Familial Infantile Bilateral Striatal Necrosis

Genetic Tests for Familial Infantile Bilateral Striatal Necrosis

Anatomical Context for Familial Infantile Bilateral Striatal Necrosis

Publications for Familial Infantile Bilateral Striatal Necrosis

Articles related to Familial Infantile Bilateral Striatal Necrosis:

# Title Authors Year
1
Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis. ( 29510394 )
2017
2
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. ( 12374138 )
2002

Variations for Familial Infantile Bilateral Striatal Necrosis

Expression for Familial Infantile Bilateral Striatal Necrosis

Search GEO for disease gene expression data for Familial Infantile Bilateral Striatal Necrosis.

Pathways for Familial Infantile Bilateral Striatal Necrosis

Pathways related to Familial Infantile Bilateral Striatal Necrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 ADAR NUP62

GO Terms for Familial Infantile Bilateral Striatal Necrosis

Biological processes related to Familial Infantile Bilateral Striatal Necrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.62 ADAR NUP62

Sources for Familial Infantile Bilateral Striatal Necrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....