MCID: MLT069
MIFTS: 12

Multiple Mitochondrial Dysfunctions Syndrome 2

Categories: Rare diseases, Genetic diseases, Metabolic diseases, Eye diseases, Neuronal 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 28 13 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0080134
UMLS 69 C3280378

Summaries for Multiple Mitochondrial Dysfunctions Syndrome 2

MalaCards based summary : Multiple Mitochondrial Dysfunctions Syndrome 2 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).

Related Diseases for Multiple Mitochondrial Dysfunctions Syndrome 2

Diseases in the Multiple Mitochondrial Dysfunctions Syndrome family:

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

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

# Related Disease Score Top Affiliating Genes
1 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 12.5

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Multiple Mitochondrial Dysfunctions Syndrome 2 28 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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