FBSN
MCID: FML050
MIFTS: 11

Familial Bilateral Striatal Necrosis (FBSN)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Bilateral Striatal Necrosis

MalaCards integrated aliases for Familial Bilateral Striatal Necrosis:

Name: Familial Bilateral Striatal Necrosis 20 6
Fbsn 20

Classifications:



Summaries for Familial Bilateral Striatal Necrosis

MalaCards based summary : Familial Bilateral Striatal Necrosis, also known as fbsn, is related to leigh syndrome and striatonigral degeneration, infantile, mitochondrial. An important gene associated with Familial Bilateral Striatal Necrosis is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6).

Related Diseases for Familial 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 Bilateral Striatal Necrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 10.0
2 striatonigral degeneration, infantile, mitochondrial 10.0
3 mitochondrial complex v deficiency, mitochondrial type 1 10.0
4 mitochondrial dna-associated leigh syndrome and narp 10.0

Symptoms & Phenotypes for Familial Bilateral Striatal Necrosis

Drugs & Therapeutics for Familial Bilateral Striatal Necrosis

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

Genetic Tests for Familial Bilateral Striatal Necrosis

Anatomical Context for Familial Bilateral Striatal Necrosis

Publications for Familial Bilateral Striatal Necrosis

Articles related to Familial Bilateral Striatal Necrosis:

# Title Authors PMID Year
1
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 61 6
7668837 1995
2
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. 6
17663470 2007
3
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. 6
9631394 1998
4
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 6
9501263 1998
5
Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy. 61
30868108 2019
6
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. 61
20656066 2011
7
Mitochondrial encephalomyopathy in Drosophila. 61
16421301 2006
8
Pathogenesis of primary defects in mitochondrial ATP synthesis. 61
11735378 2001
9
MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. 61
2159689 1990
10
MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. 61
2156413 1990

Variations for Familial Bilateral Striatal Necrosis

ClinVar genetic disease variations for Familial Bilateral Striatal Necrosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 NC_012920.1:m.8851T>C SNV Pathogenic 9645 rs199476136 GRCh37: MT:8851-8851
GRCh38: MT:8851-8851
2 MT-ATP6 NC_012920.1:m.9176T>C SNV Pathogenic 9644 rs199476135 GRCh37: MT:9176-9176
GRCh38: MT:9176-9176

Expression for Familial Bilateral Striatal Necrosis

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

Pathways for Familial Bilateral Striatal Necrosis

GO Terms for Familial Bilateral Striatal Necrosis

Sources for Familial Bilateral Striatal Necrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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