MMDS3
MCID: MLT119
MIFTS: 21

Multiple Mitochondrial Dysfunctions Syndrome 3 (MMDS3) malady

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 3

Aliases & Descriptions for Multiple Mitochondrial Dysfunctions Syndrome 3:

Name: Multiple Mitochondrial Dysfunctions Syndrome 3 54 12 24 66 29 69
Mmds3 24 66
Fatal Multiple Mitochondrial Dysfunctions Syndrome Type 3 56
Iba57 Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
fatal multiple mitochondrial dysfunctions syndrome type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
multiple mitochondrial dysfunctions syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 615330
Disease Ontology 12 DOID:0080135
Orphanet 56 ORPHA363424
ICD10 via Orphanet 34 G31.8
MeSH 42 D028361

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 3

UniProtKB/Swiss-Prot : 66 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 mmds3, 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). The drugs Ethanol and Acetylcholine have been mentioned in the context of this disorder.

Description from OMIM: 615330

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 3

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:

id Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 1 10.9

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 3

Symptoms by clinical synopsis from OMIM:

615330

Clinical features from OMIM:

615330

Human phenotypes related to Multiple Mitochondrial Dysfunctions Syndrome 3:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 microcephaly 32 HP:0000252
3 retrognathia 32 HP:0000278
4 wide intermamillary distance 32 HP:0006610
5 arthrogryposis multiplex congenita 32 HP:0002804
6 lactic acidosis 32 HP:0003128
7 abnormality of mitochondrial metabolism 32 HP:0003287
8 intrauterine growth retardation 32 HP:0001511
9 polyhydramnios 32 HP:0001561
10 metabolic acidosis 32 HP:0001942
11 polymicrogyria 32 HP:0002126
12 encephalopathy 32 HP:0001298
13 hypoplasia of the corpus callosum 32 HP:0002079
14 cerebral atrophy 32 HP:0002059
15 severe muscular hypotonia 32 HP:0006829

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 3

Drugs for Multiple Mitochondrial Dysfunctions Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Acetylcholine Approved 51-84-3 187
3 Anesthetics

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pathophysiology Analysis of "Costello Syndrome" on Cellular Models Completed NCT02812511
2 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
3 Physiological Abnormalities Associated With Down Syndrome Not yet recruiting NCT03087500

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 3

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 3:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 3 29 24 IBA57

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 3

Publications for Multiple Mitochondrial Dysfunctions Syndrome 3

Variations for Multiple Mitochondrial Dysfunctions Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

66
id Symbol AA change Variation ID SNP ID
1 IBA57 p.Gln314Pro VAR_069821 rs587777016

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IBA57 NM_001010867.3(IBA57): c.941A> C (p.Gln314Pro) single nucleotide variant Pathogenic rs587777016 GRCh37 Chromosome 1, 228363084: 228363084

Expression for Multiple Mitochondrial Dysfunctions Syndrome 3

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

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 3

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 3

Sources for Multiple Mitochondrial Dysfunctions Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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