MCID: MTC139
MIFTS: 18

Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant:

Name: Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 57 29 6
Mtdps12a 57 75
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type, Autosomal Dominant 75
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type 75
Mitochondrial Dna Depletion Syndrome 12a Autosomal Dominant 75
Mitochondrial Dna Depletion Syndrome 12a Ad 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
patients become ventilator-dependent
many patients die in infancy


HPO:

32
mitochondrial dna depletion syndrome 12a , autosomal dominant:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617184
MeSH 44 D017240

Summaries for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

OMIM : 57 MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). (617184)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant, is also known as mtdps12a. An important gene associated with Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant is SLC25A4 (Solute Carrier Family 25 Member 4). Related phenotypes are hyporeflexia and generalized hypotonia

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type: An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies.

Related Diseases for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
inability to walk independently
lipid accumulation
mtdna depletion seen on muscle biopsy
hypotonia, profound
small rounded fibers
more
Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding due to muscle weakness

Laboratory Abnormalities:
increased serum and csf lactate
organic aciduria (in some patients)

Neurologic Central Nervous System:
lack of motor development poor spontaneous movements


Clinical features from OMIM:

617184

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 generalized hypotonia 32 HP:0001290
3 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
4 organic aciduria 32 occasional (7.5%) HP:0001992
5 respiratory insufficiency due to muscle weakness 32 HP:0002747
6 lactic acidosis 32 HP:0003128

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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

Genetic Tests for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Genetic tests related to Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type), Autosomal Dominant 29 SLC25A4

Anatomical Context for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Publications for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Variations for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 SLC25A4 p.Arg80His VAR_078071 rs886041081
2 SLC25A4 p.Arg235Gly VAR_078072 rs886041082

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A4 NM_001151.3(SLC25A4): c.239G> A (p.Arg80His) single nucleotide variant Pathogenic rs886041081 GRCh38 Chromosome 4, 185144891: 185144891
2 SLC25A4 NM_001151.3(SLC25A4): c.239G> A (p.Arg80His) single nucleotide variant Pathogenic rs886041081 GRCh37 Chromosome 4, 186066045: 186066045
3 SLC25A4 NM_001151.3(SLC25A4): c.703C> G (p.Arg235Gly) single nucleotide variant Pathogenic rs886041082 GRCh38 Chromosome 4, 185145863: 185145863
4 SLC25A4 NM_001151.3(SLC25A4): c.703C> G (p.Arg235Gly) single nucleotide variant Pathogenic rs886041082 GRCh37 Chromosome 4, 186067017: 186067017

Expression for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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

Pathways for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

GO Terms for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

Sources for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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
Content
Loading form....