MCID: MTC138
MIFTS: 19

Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Categories: Genetic diseases, Cardiovascular 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 75 29 6
Mtdps12b 57 75
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type, Autosomal Recessive 75
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type 75
Mitochondrial Dna Depletion Syndrome 12b Ar 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial dna depletion syndrome 12b , autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


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)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive, is also known as mtdps12b. 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 cataract and muscle weakness

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 32 occasional (7.5%) HP:0000518
2 muscle weakness 32 occasional (7.5%) HP:0001324
3 obesity 32 occasional (7.5%) HP:0001513
4 hypertrophic cardiomyopathy 32 HP:0001639
5 lactic acidosis 32 HP:0003128
6 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
7 myalgia 32 HP:0003326
8 exercise intolerance 32 HP:0003546
9 cognitive impairment 32 occasional (7.5%) HP:0100543

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

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

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

41
Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

Variations for Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 SLC25A4 p.Ala123Asp VAR_038815 rs121912683
2 SLC25A4 p.Arg236Pro VAR_078073 rs770816416

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A4 NM_001151.3(SLC25A4): c.111+1G> A single nucleotide variant Pathogenic rs398122942 GRCh37 Chromosome 4, 186064638: 186064638
2 SLC25A4 NM_001151.3(SLC25A4): c.111+1G> A single nucleotide variant Pathogenic rs398122942 GRCh38 Chromosome 4, 185143484: 185143484
3 SLC25A4 NM_001151.3(SLC25A4): c.116_137del22 (p.Gln39Leufs) deletion Pathogenic rs886041080 GRCh38 Chromosome 4, 185144768: 185144789
4 SLC25A4 NM_001151.3(SLC25A4): c.116_137del22 (p.Gln39Leufs) deletion Pathogenic rs886041080 GRCh37 Chromosome 4, 186065922: 186065943
5 SLC25A4 NM_001151.3(SLC25A4): c.707G> C (p.Arg236Pro) single nucleotide variant Pathogenic rs770816416 GRCh38 Chromosome 4, 185145867: 185145867
6 SLC25A4 NM_001151.3(SLC25A4): c.707G> C (p.Arg236Pro) single nucleotide variant Pathogenic rs770816416 GRCh37 Chromosome 4, 186067021: 186067021

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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44 MeSH
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54 NINDS
55 Novoseek
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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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