MCID: ISC021
MIFTS: 10

Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

MalaCards integrated aliases for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome:

Name: Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 24
Multiple Mitochondrial Dysfunctions Syndrome 5 24

Classifications:



Summaries for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

MalaCards based summary : Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome, also known as multiple mitochondrial dysfunctions syndrome 5, is related to multiple mitochondrial dysfunctions syndrome 5 and multiple mitochondrial dysfunctions syndrome. An important gene associated with Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome is ISCA1 (Iron-Sulfur Cluster Assembly 1). Affiliated tissues include eye.

GeneReviews: NBK547304

Related Diseases for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 3
Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5
Multiple Mitochondrial Dysfunctions Syndrome 6 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Diseases related to Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 5 10.2
2 multiple mitochondrial dysfunctions syndrome 10.2
3 sensorineural hearing loss 10.2
4 constipation 10.2
5 pathologic nystagmus 10.2
6 pachygyria 10.2
7 spasticity 10.2

Graphical network of the top 20 diseases related to Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome:



Diseases related to Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Symptoms & Phenotypes for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Drugs & Therapeutics for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Search Clinical Trials , NIH Clinical Center for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Genetic Tests for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Anatomical Context for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

MalaCards organs/tissues related to Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome:

40
Eye

Publications for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Articles related to Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome:

# Title Authors PMID Year
1
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1. 61 24
30105122 2018
2
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. 24
30113620 2018
3
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 24
28356563 2017
4
The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. 24
22323289 2012
5
ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome 61
31580634 2019

Variations for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Expression for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Search GEO for disease gene expression data for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome.

Pathways for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

GO Terms for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

Sources for Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome

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
Content
Loading form....