MIBSN
MCID: STR099
MIFTS: 16

Striatonigral Degeneration, Infantile, Mitochondrial (MIBSN)

Categories: Genetic diseases

Aliases & Classifications for Striatonigral Degeneration, Infantile, Mitochondrial

MalaCards integrated aliases for Striatonigral Degeneration, Infantile, Mitochondrial:

Name: Striatonigral Degeneration, Infantile, Mitochondrial 57 6 70
Bilateral Striatal Necrosis, Infantile, Mitochondrial 57
Infantile Bilateral Striatal Necrosis, Mitochondrial 57
Mitochondrial Infantile Bilateral Striatal Necrosis 72
Mibsn 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in infancy
genetic heterogeneity, see autosomal recessive inheritance of the disorder

Inheritance:
mitochondrial


HPO:

31
striatonigral degeneration, infantile, mitochondrial:
Onset and clinical course infantile onset
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM® 57 500003
MedGen 41 C1839022
UMLS 70 C1839022

Summaries for Striatonigral Degeneration, Infantile, Mitochondrial

UniProtKB/Swiss-Prot : 72 Mitochondrial infantile bilateral striatal necrosis: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.

MalaCards based summary : Striatonigral Degeneration, Infantile, Mitochondrial, is also known as bilateral striatal necrosis, infantile, mitochondrial. An important gene associated with Striatonigral Degeneration, Infantile, Mitochondrial is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). Related phenotypes are global developmental delay and ragged-red muscle fibers

More information from OMIM: 500003

Related Diseases for Striatonigral Degeneration, Infantile, Mitochondrial

Symptoms & Phenotypes for Striatonigral Degeneration, Infantile, Mitochondrial

Human phenotypes related to Striatonigral Degeneration, Infantile, Mitochondrial:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 ragged-red muscle fibers 31 HP:0003200
3 babinski sign 31 HP:0003487
4 generalized hypotonia 31 HP:0001290
5 frequent falls 31 HP:0002359
6 difficulty walking 31 HP:0002355
7 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
8 hypotonia 31 HP:0001252
9 paroxysmal choreoathetosis 31 HP:0007098

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
frequent falls
difficulty walking
developmental delay
extensor plantar responses
choreoathetosis, intermittent
more
Head And Neck Eyes:
decreased amplitudes on flash visual electroretinogram

Muscle Soft Tissue:
hypotonia
muscle biopsy shows ragged red fibers

Clinical features from OMIM®:

500003 (Updated 20-May-2021)

Drugs & Therapeutics for Striatonigral Degeneration, Infantile, Mitochondrial

Search Clinical Trials , NIH Clinical Center for Striatonigral Degeneration, Infantile, Mitochondrial

Genetic Tests for Striatonigral Degeneration, Infantile, Mitochondrial

Anatomical Context for Striatonigral Degeneration, Infantile, Mitochondrial

Publications for Striatonigral Degeneration, Infantile, Mitochondrial

Articles related to Striatonigral Degeneration, Infantile, Mitochondrial:

(showing 5, show less)
# Title Authors PMID Year
1
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 57 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
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 57
8554662 1995

Variations for Striatonigral Degeneration, Infantile, Mitochondrial

ClinVar genetic disease variations for Striatonigral Degeneration, Infantile, Mitochondrial:

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

UniProtKB/Swiss-Prot genetic disease variations for Striatonigral Degeneration, Infantile, Mitochondrial:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu217Pro VAR_000797 rs199476135

Expression for Striatonigral Degeneration, Infantile, Mitochondrial

Search GEO for disease gene expression data for Striatonigral Degeneration, Infantile, Mitochondrial.

Pathways for Striatonigral Degeneration, Infantile, Mitochondrial

GO Terms for Striatonigral Degeneration, Infantile, Mitochondrial

Sources for Striatonigral Degeneration, Infantile, Mitochondrial

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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