MCID: MLT069
MIFTS: 17

Multiple Mitochondrial Dysfunctions Syndrome 2

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

Aliases & Classifications for Multiple Mitochondrial Dysfunctions Syndrome 2

MalaCards integrated aliases for Multiple Mitochondrial Dysfunctions Syndrome 2:

Name: Multiple Mitochondrial Dysfunctions Syndrome 2 12 24 29 13 69
Mmds2 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0080134

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 2

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 2, also known as mmds2, is related to multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, and has symptoms including lethargy, muscle spasticity and vomiting. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 2 is BOLA3 (BolA Family Member 3). The drugs Hypoglycemic Agents and insulin have been mentioned in the context of this disorder.

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 2

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

Multiple Mitochondrial Dysfunctions Syndrome 3 Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 5 Multiple Mitochondrial Dysfunctions Syndrome 4
Multiple Mitochondrial Dysfunctions Syndrome 2

Diseases related to Multiple Mitochondrial Dysfunctions Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 12.3

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 2

UMLS symptoms related to Multiple Mitochondrial Dysfunctions Syndrome 2:


lethargy, muscle spasticity, vomiting, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Multiple Mitochondrial Dysfunctions Syndrome 2

Drugs for Multiple Mitochondrial Dysfunctions Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hypoglycemic Agents
2 insulin
3 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action Recruiting NCT01439854 Dapagliflozin;Placebo

Search NIH Clinical Center for Multiple Mitochondrial Dysfunctions Syndrome 2

Genetic Tests for Multiple Mitochondrial Dysfunctions Syndrome 2

Genetic tests related to Multiple Mitochondrial Dysfunctions Syndrome 2:

id Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 2 29 24 BOLA3

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 2

Publications for Multiple Mitochondrial Dysfunctions Syndrome 2

Variations for Multiple Mitochondrial Dysfunctions Syndrome 2

ClinVar genetic disease variations for Multiple Mitochondrial Dysfunctions Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BOLA3 NM_212552.2(BOLA3): c.123dupA (p.Glu42Argfs) duplication Pathogenic rs869320737 GRCh38 Chromosome 2, 74145235: 74145235
2 BOLA3 NM_212552.2(BOLA3): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs143492730 GRCh37 Chromosome 2, 74372349: 74372349

Expression for Multiple Mitochondrial Dysfunctions Syndrome 2

Search GEO for disease gene expression data for Multiple Mitochondrial Dysfunctions Syndrome 2.

Pathways for Multiple Mitochondrial Dysfunctions Syndrome 2

GO Terms for Multiple Mitochondrial Dysfunctions Syndrome 2

Sources for Multiple Mitochondrial Dysfunctions Syndrome 2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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