MCID: MTC142
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 12a

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 12a

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 12a:

Name: Mitochondrial Dna Depletion Syndrome 12a 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080130
NCIt 50 C129977

Summaries for Mitochondrial Dna Depletion Syndrome 12a

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has material basis in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12a is related to mitochondrial dna depletion syndrome 12a , autosomal dominant and aganglionosis, total intestinal. An important gene associated with Mitochondrial Dna Depletion Syndrome 12a is SLC25A4 (Solute Carrier Family 25 Member 4). Affiliated tissues include eye and liver, and related phenotypes are digestive/alimentary and muscle

Related Diseases for Mitochondrial Dna Depletion Syndrome 12a

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 19
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 12a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 12a , autosomal dominant 12.0
2 aganglionosis, total intestinal 10.0 EDNRB-AS1 EDNRB
3 hirschsprung disease 2 10.0 EDNRB-AS1 EDNRB
4 waardenburg syndrome type 4 10.0 EDNRB-AS1 EDNRB
5 crest syndrome 10.0 EDNRB-AS1 EDNRB
6 abcd syndrome 10.0 EDNRB-AS1 EDNRB
7 epilepsy, familial focal, with variable foci 1 10.0 LOC106501713 CLCNKB
8 waardenburg syndrome, type 2a 10.0 EDNRB-AS1 EDNRB
9 waardenburg syndrome, type 4a 10.0 EDNRB-AS1 EDNRB
10 bartter syndrome, type 3 10.0 LOC106501713 CLCNKB
11 proteinuria, chronic benign 10.0 LOC106501713 CLCNKB
12 coffin-lowry syndrome 10.0 EDNRB-AS1 EDNRB
13 mitochondrial dna depletion syndrome 9.9 SLC25A4 POLG
14 central nervous system origin vertigo 9.9 SLC25A4 POLG
15 mitochondrial dna maintenance defects 9.9 SLC25A4 POLG
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9 SLC25A4 POLG
17 mitochondrial dna depletion syndrome 12b 9.9 SLC25A4 POLG
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9 SLC25A4 POLG
19 intracranial berry aneurysm 9.9 EDNRB APOE
20 mitochondrial dna depletion syndrome 7 9.9 SLC25A4 POLG
21 autosomal dominant progressive external ophthalmoplegia 9.9 SLC25A4 POLG
22 mitochondrial dna depletion syndrome 4b 9.9 SLC25A4 POLG
23 ocular motility disease 9.9 SLC25A4 POLG
24 mitochondrial metabolism disease 9.8 SLC25A4 POLG
25 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 SLC25A4 POLG
26 mitochondrial dna depletion syndrome 4a 9.8 SLC25A4 POLG
27 chronic progressive external ophthalmoplegia 9.8 SLC25A4 POLG
28 hematuria, benign familial 9.7 LOC106501713 CLCNKB
29 axonal neuropathy 9.7 SLC25A4 POLG
30 intestinal pseudo-obstruction 9.7 POLG EDNRB
31 bartter disease 9.6 LOC106501713 CLCNKB

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 12a:



Diseases related to Mitochondrial Dna Depletion Syndrome 12a

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 12a

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome 12a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.46 APOE CLCNKB EDNRB POLG
2 muscle MP:0005369 9.26 APOE EDNRB POLG SLC25A4
3 pigmentation MP:0001186 8.8 APOE EDNRB POLG

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 12a

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 12a

Genetic Tests for Mitochondrial Dna Depletion Syndrome 12a

Anatomical Context for Mitochondrial Dna Depletion Syndrome 12a

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 12a:

40
Eye, Liver

Publications for Mitochondrial Dna Depletion Syndrome 12a

Variations for Mitochondrial Dna Depletion Syndrome 12a

Expression for Mitochondrial Dna Depletion Syndrome 12a

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 12a.

Pathways for Mitochondrial Dna Depletion Syndrome 12a

GO Terms for Mitochondrial Dna Depletion Syndrome 12a

Biological processes related to Mitochondrial Dna Depletion Syndrome 12a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vasodilation GO:0042311 9.16 EDNRB APOE
2 cGMP-mediated signaling GO:0019934 8.96 EDNRB APOE
3 negative regulation of cellular protein metabolic process GO:0032269 8.62 EDNRB APOE

Sources for Mitochondrial Dna Depletion Syndrome 12a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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