MCID: MLT069
MIFTS: 14

Multiple Mitochondrial Dysfunctions Syndrome 2

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 29 13 6 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0080134
UMLS 73 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 leukodystrophy, and has symptoms including vomiting, abnormality of extrapyramidal motor function and lethargy. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 2 is BOLA3 (BolA Family Member 3). Affiliated tissues include eye.

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 6 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 12.6
2 leukodystrophy 9.9

Symptoms & Phenotypes for Multiple Mitochondrial Dysfunctions Syndrome 2

UMLS symptoms related to Multiple Mitochondrial Dysfunctions Syndrome 2:


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

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 29 BOLA3

Anatomical Context for Multiple Mitochondrial Dysfunctions Syndrome 2

MalaCards organs/tissues related to Multiple Mitochondrial Dysfunctions Syndrome 2:

41
Eye

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.123dupA (p.Glu42Argfs) duplication Pathogenic rs869320737 GRCh37 Chromosome 2, 74372362: 74372362
3 BOLA3 NM_212552.2(BOLA3): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs143492730 GRCh37 Chromosome 2, 74372349: 74372349
4 BOLA3 NM_212552.2(BOLA3): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs143492730 GRCh38 Chromosome 2, 74145222: 74145222

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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