MCID: MLT119
MIFTS: 14

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
48OMIM, 34MalaCards
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MalaCards: Multiple Mitochondrial Dysfunctions Syndrome 3, is also known as fatal multiple mitochondrial dysfunction syndrome type 3 An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)).

Description from OMIM:48 615330

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
fatal multiple mitochondrial dysfunction syndrome type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

multiple mitochondrial dysfunctions syndrome 3 48
fatal multiple mitochondrial dysfunction syndrome type 3 50
hypotonia-cerebral atrophy-hyperglycinemia syndrome 50
iba57 deficiency 50


External Ids:

ICD10 via Orphanet27 G31.8
OMIM48 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

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Diseases in the Multiple Mitochondrial Dysfunctions Syndrome 1 family:

Multiple Mitochondrial Dysfunctions Syndrome 2 multiple mitochondrial dysfunctions syndrome 3

Symptoms for Multiple Mitochondrial Dysfunctions Syndrome 3

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48OMIM
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Symptoms by clinical synopsis from OMIM:

615330

Clinical features from OMIM:

615330

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Multiple Mitochondrial Dysfunctions Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Multiple Mitochondrial Dysfunctions Syndrome 3

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Search CenterWatch for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

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Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

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Animal Models for Multiple Mitochondrial Dysfunctions Syndrome 3 or affiliated genes

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Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

65
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821

Clinvar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1IBA57NM_001010867.2(IBA57): c.941A> C (p.Gln314Pro)single nucleotide variantPathogenicGRCh37Chr 1, 228363084: 228363084

Expression for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 3.

Pathways for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Compounds for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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GO Terms for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Products for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet