MCID: ISC017
MIFTS: 7

Isca2-Related Mitochondrial Disorder

Aliases & Classifications for Isca2-Related Mitochondrial Disorder

MalaCards integrated aliases for Isca2-Related Mitochondrial Disorder:

Name: Isca2-Related Mitochondrial Disorder 24
Multiple Mitochondrial Dysfunction Syndrome 4 24

Summaries for Isca2-Related Mitochondrial Disorder

MalaCards based summary : Isca2-Related Mitochondrial Disorder, also known as multiple mitochondrial dysfunction syndrome 4, is related to 3-methylglutaconic aciduria, type iii and multiple mitochondrial dysfunctions syndrome 4. An important gene associated with Isca2-Related Mitochondrial Disorder is ISCA2 (Iron-Sulfur Cluster Assembly 2). Affiliated tissues include brain.

GeneReviews: NBK481904

Related Diseases for Isca2-Related Mitochondrial Disorder

Diseases related to Isca2-Related Mitochondrial Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 10.2
2 multiple mitochondrial dysfunctions syndrome 4 10.2
3 constipation 10.2
4 pathologic nystagmus 10.2
5 hypertonia 10.2
6 multiple mitochondrial dysfunctions syndrome 10.1

Graphical network of the top 20 diseases related to Isca2-Related Mitochondrial Disorder:



Diseases related to Isca2-Related Mitochondrial Disorder

Symptoms & Phenotypes for Isca2-Related Mitochondrial Disorder

Drugs & Therapeutics for Isca2-Related Mitochondrial Disorder

Search Clinical Trials , NIH Clinical Center for Isca2-Related Mitochondrial Disorder

Genetic Tests for Isca2-Related Mitochondrial Disorder

Anatomical Context for Isca2-Related Mitochondrial Disorder

MalaCards organs/tissues related to Isca2-Related Mitochondrial Disorder:

41
Brain

Publications for Isca2-Related Mitochondrial Disorder

Articles related to Isca2-Related Mitochondrial Disorder:

# Title Authors PMID Year
1
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations. 4
29359243 2018
2
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. 4
29297947 2018
3
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. 4
29122497 2018
4
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. 4
25539947 2015
5
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 4
25558065 2015
6
ISCA2-Related Mitochondrial Disorder 38
29470032 2018

Variations for Isca2-Related Mitochondrial Disorder

Expression for Isca2-Related Mitochondrial Disorder

Search GEO for disease gene expression data for Isca2-Related Mitochondrial Disorder.

Pathways for Isca2-Related Mitochondrial Disorder

GO Terms for Isca2-Related Mitochondrial Disorder

Sources for Isca2-Related Mitochondrial Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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