MCID: STR099
MIFTS: 28

Striatonigral Degeneration, Infantile, Mitochondrial

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 73
Bilateral Striatal Necrosis, Infantile, Mitochondrial 57
Infantile Bilateral Striatal Necrosis, Mitochondrial 57
Mitochondrial Infantile Bilateral Striatal Necrosis 75
Mibsn 75

Characteristics:

OMIM:

57
Inheritance:
mitochondrial

Miscellaneous:
onset in infancy
genetic heterogeneity, see autosomal recessive inheritance of the disorder


HPO:

32
striatonigral degeneration, infantile, mitochondrial:
Inheritance mitochondrial inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 500003
MedGen 42 C1839022
UMLS 73 C1839022

Summaries for Striatonigral Degeneration, Infantile, Mitochondrial

UniProtKB/Swiss-Prot : 75 Mitochondrial infantile bilateral striatal necrosis: Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.

MalaCards based summary : Striatonigral Degeneration, Infantile, Mitochondrial, also known as bilateral striatal necrosis, infantile, mitochondrial, is related to periodic paralysis with later-onset distal motor neuropathy and isolated atp synthase deficiency. An important gene associated with Striatonigral Degeneration, Infantile, Mitochondrial is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotypes are decreased light- and dark-adapted electroretinogram amplitude and muscular hypotonia

Description from OMIM: 500003

Related Diseases for Striatonigral Degeneration, Infantile, Mitochondrial

Diseases related to Striatonigral Degeneration, Infantile, Mitochondrial via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 periodic paralysis with later-onset distal motor neuropathy 10.2 MT-ATP6 MT-ATP8
2 isolated atp synthase deficiency 10.2 MT-ATP6 MT-ATP8
3 sideroblastic anemia acquired 10.1 MT-ATP6 MT-ATP8
4 mitochondrial complex v deficiency 10.0 MT-ATP6 MT-ATP8
5 diphyllobothriasis 9.8 MT-ATP8 MT-ND3
6 mitochondrial metabolism disease 9.7 MT-ATP6 MT-ND3
7 leber optic atrophy and dystonia 9.7 MT-ND3 MT-ND4
8 sparganosis 9.6 MT-ND3 MT-ND4
9 cercarial dermatitis 9.5 MT-ATP8 MT-ND4
10 mitochondrial complex iv deficiency 9.4 MT-CO3 MT-ND3
11 lactic acidosis 9.2 MT-ATP6 MT-CO3 MT-ND4
12 kearns-sayre syndrome 9.2 MT-ATP6 MT-ATP8 MT-ND4
13 mitochondrial disorders 9.1 MT-ATP6 MT-ND3 MT-ND4
14 mitochondrial dna depletion syndrome 1 9.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3
15 mitochondrial dna-associated leigh syndrome and narp 8.7 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
16 deafness, nonsyndromic sensorineural, mitochondrial 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
17 mitochondrial myopathy 8.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
18 mitochondrial complex i deficiency 8.6 MT-ND3 MT-ND4 MT-ND4L
19 myopathy 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
20 mitochondrial encephalomyopathy 8.5 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
21 cardiomyopathy, infantile hypertrophic 8.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
22 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
23 leber hereditary optic neuropathy 8.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
24 striatonigral degeneration, infantile 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
25 leber optic atrophy 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
26 ataxia and polyneuropathy, adult-onset 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
27 myopathy, lactic acidosis, and sideroblastic anemia 3 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
28 myopathy, lactic acidosis, and sideroblastic anemia 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
29 familial colorectal cancer 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
30 leigh syndrome 7.4 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
31 retinitis pigmentosa 7.3 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

Graphical network of the top 20 diseases related to Striatonigral Degeneration, Infantile, Mitochondrial:



Diseases related to Striatonigral Degeneration, Infantile, Mitochondrial

Symptoms & Phenotypes for Striatonigral Degeneration, Infantile, Mitochondrial

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased amplitudes on flash visual electroretinogram

Neurologic Central Nervous System:
developmental delay
difficulty walking
frequent falls
choreoathetosis, intermittent
extensor plantar responses
more
Muscle Soft Tissue:
hypotonia
muscle biopsy shows ragged red fibers


Clinical features from OMIM:

500003

Human phenotypes related to Striatonigral Degeneration, Infantile, Mitochondrial:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 difficulty walking 32 HP:0002355
6 frequent falls 32 HP:0002359
7 ragged-red muscle fibers 32 HP:0003200
8 babinski sign 32 HP:0003487
9 paroxysmal choreoathetosis 32 HP:0007098

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

Variations for Striatonigral Degeneration, Infantile, Mitochondrial

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

75
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu217Pro VAR_000797 rs199476135

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.9176T> C single nucleotide variant Pathogenic rs199476135 GRCh37 Chromosome MT, 9176: 9176
2 MT-ATP6 m.9176T> C single nucleotide variant Pathogenic rs199476135 GRCh38 Chromosome MT, 9176: 9176
3 MT-ATP6 m.8851T> C single nucleotide variant Pathogenic rs199476136 GRCh37 Chromosome MT, 8851: 8851
4 MT-ATP6 m.8851T> C single nucleotide variant Pathogenic rs199476136 GRCh38 Chromosome MT, 8851: 8851

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

Cellular components related to Striatonigral Degeneration, Infantile, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrion GO:0005739 9.76 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
3 respiratory chain GO:0070469 9.5 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
6 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND3 MT-ND4 MT-ND4L
7 NADH dehydrogenase complex GO:0030964 9.26 MT-ND3 MT-ND4L
8 mitochondrial membrane GO:0031966 9.26 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L
9 mitochondrial inner membrane GO:0005743 9.02 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4

Biological processes related to Striatonigral Degeneration, Infantile, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 MT-ND3 MT-ND4 MT-ND4L
2 aging GO:0007568 9.48 MT-ATP6 MT-ND4
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND3 MT-ND4
4 aerobic respiration GO:0009060 9.4 MT-CO3 MT-ND4
5 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
6 cristae formation GO:0042407 9.32 MT-ATP6 MT-ATP8
7 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
9 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
10 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

Molecular functions related to Striatonigral Degeneration, Infantile, Mitochondrial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 MT-ND3 MT-ND4 MT-ND4L
2 transmembrane transporter activity GO:0022857 9.26 MT-ATP6 MT-ATP8
3 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L

Sources for Striatonigral Degeneration, Infantile, Mitochondrial

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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