MCID: MLT119
MIFTS: 14

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

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MalaCards based summary: Multiple Mitochondrial Dysfunctions Syndrome 3, is also known as fatal multiple mitochondrial dysfunction syndrome type 3 and has symptoms including An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)).

Description from OMIM:46 615330

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Multiple Mitochondrial Dysfunctions Syndrome 3, Aliases & Descriptions:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 46
Fatal Multiple Mitochondrial Dysfunction Syndrome Type 3 48
 
Hypotonia-Cerebral Atrophy-Hyperglycinemia Syndrome 48
Iba57 Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
fatal multiple mitochondrial dysfunction syndrome type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 G31.8
OMIM46 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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Symptoms by clinical synopsis from OMIM:

615330

Clinical features from OMIM:

615330

HPO human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 microcephaly HP:0000252
4 retrognathia HP:0000278
5 encephalopathy HP:0001298
6 intrauterine growth retardation HP:0001511
7 polyhydramnios HP:0001561
8 metabolic acidosis HP:0001942
9 cerebral atrophy HP:0002059
10 hypoplasia of the corpus callosum HP:0002079
11 polymicrogyria HP:0002126
12 arthrogryposis multiplex congenita HP:0002804
13 lactic acidosis HP:0003128
14 congenital onset HP:0003577
15 wide intermamillary distance HP:0006610
16 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

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Drug clinical trials:

Search ClinicalTrials for Multiple Mitochondrial Dysfunctions Syndrome 3

Search NIH Clinical Center 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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UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

64
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821

Clinvar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

6
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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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

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet