MCID: FML050
MIFTS: 7

Familial Bilateral Striatal Necrosis

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Familial Bilateral Striatal Necrosis

MalaCards integrated aliases for Familial Bilateral Striatal Necrosis:

Name: Familial Bilateral Striatal Necrosis 53
Fbsn 53

Classifications:



Summaries for Familial Bilateral Striatal Necrosis

MalaCards based summary : Familial Bilateral Striatal Necrosis, is also known as fbsn. An important gene associated with Familial Bilateral Striatal Necrosis is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). The drug Ubiquinone has been mentioned in the context of this disorder.

Related Diseases for Familial Bilateral Striatal Necrosis

Symptoms & Phenotypes for Familial Bilateral Striatal Necrosis

Drugs & Therapeutics for Familial Bilateral Striatal Necrosis

Drugs for Familial Bilateral Striatal Necrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search 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 Year
1
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. ( 7668837 )
1995

Variations for Familial Bilateral Striatal Necrosis

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 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
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