MTDPS12B
MCID: MTC138
MIFTS: 25

Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive (MTDPS12B)

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 , Autosomal Recessive

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

Name: Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 57 72 29 6
Mitochondrial Dna Depletion Syndrome 12b Ar 57 29
Mtdps12b 57 72
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type, Autosomal Recessive 72
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive
three unrelated patients have been reported (last curated november 2016)


HPO:

31
mitochondrial dna depletion syndrome 12b , autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

OMIM® : 57 Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (615418) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive, is also known as mitochondrial dna depletion syndrome 12b ar. An important gene associated with Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive is SLC25A4 (Solute Carrier Family 25 Member 4). Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and cataract

UniProtKB/Swiss-Prot : 72 Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria.

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 occasional (7.5%) HP:0001324
2 cataract 31 occasional (7.5%) HP:0000518
3 cognitive impairment 31 occasional (7.5%) HP:0100543
4 skeletal muscle atrophy 31 occasional (7.5%) HP:0003202
5 obesity 31 occasional (7.5%) HP:0001513
6 hypertrophic cardiomyopathy 31 HP:0001639
7 myalgia 31 HP:0003326
8 lactic acidosis 31 HP:0003128
9 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
exercise intolerance
muscle pain
mitochondrial dna deletions
muscle weakness (1 patient)
muscle atrophy (1 patient)
more
Head And Neck Eyes:
cataracts (1 patient)

Neurologic Central Nervous System:
cognitive impairment (1 patient)

Metabolic Features:
lactic acidosis

Growth Weight:
obesity (1 patient)

Skeletal Feet:
high-arched feet (1 patient)
hammer-shaped toes (1 patient)
contracture of the achilles tendon (1 patient)

Clinical features from OMIM®:

615418 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Genetic tests related to Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 12b (cardiomyopathic Type), Autosomal Recessive 29 SLC25A4
2 Mitochondrial Dna Depletion Syndrome 12b (cardiomyopathic Type) Ar 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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

40
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Articles related to Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

# Title Authors PMID Year
1
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 6 57
25732997 2015
2
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 6 57
22187496 2012
3
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 6 57
16155110 2005
4
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. 57 6
8479824 1993
5
Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E. 57 6
7609449 1993
6
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. 57
9207786 1997

Variations for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A4 NM_001151.4(SLC25A4):c.111+1G>A SNV Pathogenic 66011 rs398122942 GRCh37: 4:186064638-186064638
GRCh38: 4:185143484-185143484
2 SLC25A4 NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs) Deletion Pathogenic 268149 rs886041080 GRCh37: 4:186065922-186065943
GRCh38: 4:185144768-185144789
3 SLC25A4 NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro) SNV Pathogenic 268150 rs770816416 GRCh37: 4:186067021-186067021
GRCh38: 4:185145867-185145867
4 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Pathogenic 18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
5 SLC25A4 NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val) SNV Uncertain significance 562200 rs1560841935 GRCh37: 4:186066321-186066321
GRCh38: 4:185145167-185145167

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 SLC25A4 p.Ala123Asp VAR_038815 rs121912683
2 SLC25A4 p.Arg236Pro VAR_078073 rs770816416

Expression for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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

Pathways for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

GO Terms for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Sources for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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