MCID: MTC143
MIFTS: 29

Mitochondrial Dna Depletion Syndrome 12b

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 12b

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 12b:

Name: Mitochondrial Dna Depletion Syndrome 12b 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080335
NCIt 50 C129977

Summaries for Mitochondrial Dna Depletion Syndrome 12b

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12b is related to mitochondrial dna depletion syndrome 12b , autosomal recessive and cardiomyopathy, familial restrictive, 2. An important gene associated with Mitochondrial Dna Depletion Syndrome 12b is SLC25A4 (Solute Carrier Family 25 Member 4), and among its related pathways/superpathways are ERK Signaling and cGMP-PKG signaling pathway. Affiliated tissues include eye, liver and heart, and related phenotypes are cardiovascular system and behavior/neurological

Related Diseases for Mitochondrial Dna Depletion Syndrome 12b

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 12b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 12b , autosomal recessive 12.1
2 cardiomyopathy, familial restrictive, 2 10.3 MYPN FLNC
3 central nervous system origin vertigo 10.3 SLC25A4 POLG
4 mitochondrial dna depletion syndrome 12a 10.3 SLC25A4 POLG
5 cardiomyopathy, familial restrictive, 3 10.3 MYPN FLNC
6 camptocormism 10.3 POLG MYH7
7 cardiomyopathy, familial hypertrophic, 26 10.3 RBM20 FLNC
8 mitochondrial dna maintenance defects 10.3 SLC25A4 POLG
9 myopathy, spheroid body 10.2 MYPN FLNC BAG3
10 limb-girdle muscular dystrophy type 1a 10.2 TTN FLNC
11 lethal congenital contracture syndrome 4 10.2 OBSCN MYBPC3
12 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 TTN OBSCN
13 autosomal dominant distal myopathy 10.2 TTN MYH7
14 familial isolated arrhythmogenic right ventricular dysplasia 10.1 SCN5A BAG3
15 axonal neuropathy 10.1 SLC25A4 POLG BAG3
16 cardiomyopathy, dilated, 1dd 10.1 TTN RBM20
17 subclavian artery aneurysm 10.1 TGFBR2 FBN1
18 first-degree atrioventricular block 10.1 SCN5A MYH7
19 myopathy, myofibrillar, 2 10.1 FLNC BAG3
20 cardiomyopathy, familial hypertrophic, 4 10.1 TTN MYH7 MYBPC3
21 ectopia lentis 1, isolated, autosomal dominant 10.1 TGFBR2 FBN1
22 myopathy, myofibrillar, 5 10.1 TTN FLNC BAG3
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.0 SLC25A4 POLG
24 rigid spine muscular dystrophy 1 10.0 TTN MYH7 BAG3
25 pulmonary valve stenosis 10.0 SCN5A RBM20 FBN1
26 ectopia lentis 2, isolated, autosomal recessive 10.0 TGFBR2 FBN1
27 myopathy, myofibrillar, 3 10.0 TTN MYPN FLNC BAG3
28 myopathy, myofibrillar, 4 10.0 TTN MYPN FLNC BAG3
29 myopathy, myofibrillar, 1 10.0 TTN MYPN FLNC BAG3
30 congenital structural myopathy 10.0 TTN MYPN MYH7 FLNC
31 brugada syndrome 1 10.0 SCN5A MYBPC3 FBN1
32 lmna-related dilated cardiomyopathy 10.0 TTN RBM20 MYBPC3 BAG3
33 cardiomyopathy, dilated, 1h 10.0 TTN RBM20 MYBPC3 BAG3
34 cardiomyopathy, dilated, 1a 10.0 TTN RBM20 MYBPC3 BAG3
35 tricuspid valve disease 9.9 MYH7 MYH6 FBN1
36 peripartum cardiomyopathy 9.9 TTN SCN5A MYH7
37 left ventricular noncompaction 1 9.9 SCN5A MYPN MYH6
38 atrioventricular block 9.9 TTN SCN5A MYH7
39 mobitz type ii atrioventricular block 9.9 MYH7 MYH6
40 familial sick sinus syndrome 9.9 SCN5A MYH6
41 tibial muscular dystrophy 9.9 TTN OBSCN MYPN MYH7 FLNC
42 danon disease 9.9 PRKAG2 MYH7 MYH6 MYBPC3
43 pulsating exophthalmos 9.9 TGFBR2 TGFBR1
44 myopathy, distal, 1 9.9 TTN MYH7 MYH6
45 aortic aneurysm, familial thoracic 6 9.9 TGFBR1 FBN1
46 batten-turner congenital myopathy 9.8 TTN MYH7 MYH6
47 transient hypogammaglobulinemia of infancy 9.8 TGFBR2 TGFBR1
48 transient hypogammaglobulinemia 9.8 TGFBR2 TGFBR1
49 cardiomyopathy, dilated, 1e 9.8 TTN SCN5A RBM20 MYH7
50 congenital fiber-type disproportion 9.8 TTN MYH7 MYH6

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



Diseases related to Mitochondrial Dna Depletion Syndrome 12b

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 12b

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

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.46 BAG3 FBN1 FLNC LAMA4 MYBPC3 MYH6
2 behavior/neurological MP:0005386 10.37 BAG3 FBN1 FLNC LAMA4 MYBPC3 MYH6
3 growth/size/body region MP:0005378 10.36 BAG3 FBN1 FLNC LAMA4 MYBPC3 MYH6
4 homeostasis/metabolism MP:0005376 10.34 BAG3 FBN1 FLNC LAMA4 MYBPC3 MYH6
5 cellular MP:0005384 10.24 BAG3 FBN1 LAMA4 MYH6 OBSCN POLG
6 muscle MP:0005369 10.21 BAG3 FBN1 FLNC LAMA4 MYBPC3 MYH6
7 mortality/aging MP:0010768 10.2 BAG3 FBN1 FLNC LAMA4 MYH6 MYH7
8 immune system MP:0005387 10.14 BAG3 FBN1 LAMA4 MYH6 POLG PRKAG2
9 embryo MP:0005380 10.13 FBN1 FLNC POLG PSEN2 SCN5A SMAD9
10 integument MP:0010771 10.02 BAG3 FBN1 FLNC LAMA4 MYPN POLG
11 normal MP:0002873 9.81 MYH7 MYPN PSEN2 SCN5A SLC25A4 SMAD9
12 pigmentation MP:0001186 9.35 FBN1 LAMA4 MYPN POLG TGFBR2
13 respiratory system MP:0005388 9.28 BAG3 FBN1 FLNC MYH6 PSEN2 SCN5A

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 12b

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome 12b

Anatomical Context for Mitochondrial Dna Depletion Syndrome 12b

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

40
Eye, Liver, Heart

Publications for Mitochondrial Dna Depletion Syndrome 12b

Variations for Mitochondrial Dna Depletion Syndrome 12b

Expression for Mitochondrial Dna Depletion Syndrome 12b

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

Pathways for Mitochondrial Dna Depletion Syndrome 12b

Pathways related to Mitochondrial Dna Depletion Syndrome 12b according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 TGFBR2 TGFBR1 SMAD9 PSEN2 PRKAG2 MYH7
2
Show member pathways
12.31 SLC25A4 SCN5A MYH7 MYH6
3
Show member pathways
12.22 TGFBR2 TGFBR1 SMAD9 MYH7
4 11.65 TGFBR2 TGFBR1 SMAD9
5
Show member pathways
11.59 TGFBR2 TGFBR1 SMAD9
6 11.47 TTN MYH6 MYBPC3
7 11.37 PRKAG2 MYH7 MYH6
8 11.31 TGFBR2 TGFBR1 SMAD9
9
Show member pathways
11.29 TTN PRKAG2 MYH7 MYH6 MYBPC3
10 11.23 TGFBR2 TGFBR1 SMAD9 FBN1
11
Show member pathways
10.86 TGFBR2 TGFBR1 SMAD9
12 10.75 TGFBR2 TGFBR1
13 10.73 TGFBR2 TGFBR1 FBN1

GO Terms for Mitochondrial Dna Depletion Syndrome 12b

Cellular components related to Mitochondrial Dna Depletion Syndrome 12b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.58 SCN5A OBSCN FLNC
2 stress fiber GO:0001725 9.5 MYH7 MYH6 BAG3
3 myofibril GO:0030016 9.43 OBSCN MYH7 MYH6
4 muscle myosin complex GO:0005859 9.37 MYH7 MYH6
5 sarcomere GO:0030017 9.35 OBSCN MYPN MYH7 MYH6 MYBPC3
6 myosin filament GO:0032982 9.33 MYH7 MYH6 MYBPC3
7 Z disc GO:0030018 9.28 TTN SCN5A PSEN2 OBSCN MYPN MYH7

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.95 TTN TGFBR2 TGFBR1 PRKAG2 OBSCN
2 regulation of catalytic activity GO:0050790 9.87 TTN PRKAG2 OBSCN BAG3
3 heart development GO:0007507 9.76 TGFBR2 TGFBR1 RBM20 FBN1
4 muscle contraction GO:0006936 9.73 TTN MYH7 MYH6
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.71 TGFBR2 TGFBR1 SMAD9
6 regulation of the force of heart contraction GO:0002026 9.59 MYH7 MYH6
7 activin receptor signaling pathway GO:0032924 9.58 TGFBR2 TGFBR1
8 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 TGFBR2 TGFBR1
9 regulation of heart rate GO:0002027 9.54 SCN5A MYH7 MYH6
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.52 TGFBR2 TGFBR1
11 cardiac muscle hypertrophy in response to stress GO:0014898 9.51 MYH7 MYH6
12 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.5 MYH7 MYH6 MYBPC3
13 adult heart development GO:0007512 9.49 MYH7 MYH6
14 response to cholesterol GO:0070723 9.48 TGFBR2 TGFBR1
15 muscle filament sliding GO:0030049 9.46 TTN MYH7 MYH6 MYBPC3
16 cardiac muscle fiber development GO:0048739 9.43 TTN MYH6
17 striated muscle contraction GO:0006941 9.43 TTN MYH7 MYH6
18 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.4 TGFBR2 TGFBR1
19 sarcomere organization GO:0045214 9.26 TTN OBSCN MYPN MYH6
20 cardiac muscle contraction GO:0060048 9.02 TTN SCN5A MYH7 MYH6 MYBPC3

Molecular functions related to Mitochondrial Dna Depletion Syndrome 12b according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 TTN TGFBR2 TGFBR1 SMAD9 SLC25A4 SCN5A
2 ATP binding GO:0005524 10.05 TTN TGFBR2 TGFBR1 PRKAG2 OBSCN MYH7
3 actin binding GO:0003779 9.72 MYPN MYH7 MYH6 MYBPC3 FLNC
4 muscle alpha-actinin binding GO:0051371 9.49 TTN MYPN
5 activin binding GO:0048185 9.48 TGFBR2 TGFBR1
6 I-SMAD binding GO:0070411 9.46 TGFBR1 SMAD9
7 titin binding GO:0031432 9.43 OBSCN MYBPC3
8 structural constituent of muscle GO:0008307 9.43 TTN OBSCN MYBPC3
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 TGFBR2 TGFBR1
10 transforming growth factor beta-activated receptor activity GO:0005024 9.37 TGFBR2 TGFBR1
11 ankyrin binding GO:0030506 9.13 SCN5A OBSCN FLNC
12 calmodulin binding GO:0005516 9.02 TTN SCN5A OBSCN MYH7 MYH6

Sources for Mitochondrial Dna Depletion Syndrome 12b

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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