MCID: ISC017
MIFTS: 10

Isca2-Related Mitochondrial Disorder

Categories: Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

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

Classifications:



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 in the Mitochondrial Disorders family:

Isca2-Related Mitochondrial Disorder Rrm2b-Related Mitochondrial Disease
Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis

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:

40
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. 24
29359243 2018
2
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. 24
29297947 2018
3
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. 24
29122497 2018
4
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. 24
25539947 2015
5
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 24
25558065 2015
6
ISCA2-Related Mitochondrial Disorder 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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