MCID: MLT119
MIFTS: 18

Multiple Mitochondrial Dysfunctions Syndrome 3 malady

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

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Aliases & Descriptions for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 50 11 68 25 66
Fatal Multiple Mitochondrial Dysfunctions Syndrome Type 3 52
 
Iba57 Deficiency 52
Mmds3 68

Characteristics:

Orphanet epidemiological data:

52
fatal multiple mitochondrial dysfunctions syndrome type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
multiple mitochondrial dysfunctions syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 615330
Disease Ontology11 DOID:0080135
Orphanet52 ORPHA363424
ICD10 via Orphanet29 G31.8
MeSH37 D028361

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

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UniProtKB/Swiss-Prot:68 Multiple mitochondrial dysfunctions syndrome 3: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2- oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

MalaCards based summary: Multiple Mitochondrial Dysfunctions Syndrome 3, also known as fatal multiple mitochondrial dysfunctions syndrome type 3, is related to multiple mitochondrial dysfunctions syndrome 1, and has symptoms including high palate, microcephaly and retrognathia. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (IBA57 Homolog, Iron-Sulfur Cluster Assembly).

Description from OMIM:50 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

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Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

multiple mitochondrial dysfunctions syndrome 3 Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 2 Multiple Mitochondrial Dysfunctions Syndrome 4

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1multiple mitochondrial dysfunctions syndrome 110.0

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 15)
id Description Frequency HPO Source Accession
1 high palate HP:0000218
2 microcephaly HP:0000252
3 retrognathia HP:0000278
4 encephalopathy HP:0001298
5 intrauterine growth retardation HP:0001511
6 polyhydramnios HP:0001561
7 metabolic acidosis HP:0001942
8 cerebral atrophy HP:0002059
9 hypoplasia of the corpus callosum HP:0002079
10 polymicrogyria HP:0002126
11 arthrogryposis multiplex congenita HP:0002804
12 lactic acidosis HP:0003128
13 abnormality of mitochondrial metabolism HP:0003287
14 wide intermamillary distance HP:0006610
15 severe muscular hypotonia HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Pathophysiology Analysis of "Costello Syndrome" on Cellular ModelsCompletedNCT02812511
2A Case Control Study to Identify the Role of Epigenetic Regulation of Genes Responsible for Energy Metabolism and Mitochondrial Function in the Obesity Paradox in Cardiac SurgeryNot yet recruitingNCT02908009

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

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Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 3:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 325

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:

68
id Symbol AA change Variation ID SNP ID
1IBA57p.Gln314ProVAR_069821rs587777016

Clinvar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IBA57NM_001010867.3(IBA57): c.941A> C (p.Gln314Pro)single nucleotide variantPathogenicrs587777016GRCh37Chr 1, 228363084: 228363084

Expression for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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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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GO Terms for genes affiliated with Multiple Mitochondrial Dysfunctions Syndrome 3

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Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet