MTDPS12A
MCID: MTC139
MIFTS: 22

Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant (MTDPS12A)

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 , Autosomal Dominant

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

Name: Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 57 29 6
Mitochondrial Dna Depletion Syndrome 12a Ad 57 29
Mtdps12a 57 72
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type, Autosomal Dominant 72
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type 72
Mitochondrial Dna Depletion Syndrome 12a Autosomal Dominant 72

Characteristics:

OMIM®:

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

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


HPO:

31
mitochondrial dna depletion syndrome 12a , autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM® 57 617184
OMIM Phenotypic Series 57 PS603041
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) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant, is also known as mitochondrial dna depletion syndrome 12a ad. An important gene associated with Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant is SLC25A4 (Solute Carrier Family 25 Member 4). Related phenotypes are hypertrophic cardiomyopathy and organic aciduria

UniProtKB/Swiss-Prot : 72 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.

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
2 organic aciduria 31 occasional (7.5%) HP:0001992
3 respiratory insufficiency due to muscle weakness 31 HP:0002747
4 hyporeflexia 31 HP:0001265
5 lactic acidosis 31 HP:0003128
6 generalized hypotonia 31 HP:0001290
7 inability to walk 31 HP:0002540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
respiratory insufficiency due to muscle weakness

Metabolic Features:
lactic acidosis

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

Muscle Soft Tissue:
inability to walk independently
lipid accumulation
mtdna depletion seen on muscle biopsy
hypotonia, profound
small rounded fibers
more
Neurologic Peripheral Nervous System:
hyporeflexia

Abdomen Gastrointestinal:
poor feeding due to muscle weakness

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)

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

Clinical features from OMIM®:

617184 (Updated 05-Apr-2021)

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
2 Mitochondrial Dna Depletion Syndrome 12a (cardiomyopathic Type) Ad 29

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

Publications for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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

# Title Authors PMID Year
1
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 57 6
27693233 2016

Variations for Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A4 NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) SNV Pathogenic 253038 rs886041082 GRCh37: 4:186067017-186067017
GRCh38: 4:185145863-185145863
2 SLC25A4 NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) SNV Pathogenic 253037 rs886041081 GRCh37: 4:186066045-186066045
GRCh38: 4:185144891-185144891
3 SLC25A4 NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) SNV Likely pathogenic 635018 rs1560841701 GRCh37: 4:186066044-186066044
GRCh38: 4:185144890-185144890
4 SLC25A4 NM_001151.4(SLC25A4):c.874G>C (p.Asp292His) SNV Uncertain significance 1033744 GRCh37: 4:186068102-186068102
GRCh38: 4:185146948-185146948
5 EDNRB-AS1 , EDNRB NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) SNV Benign 16638 rs5352 GRCh37: 13:78475230-78475230
GRCh38: 13:77901095-77901095
6 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) SNV Benign 402541 rs143663847 GRCh37: 1:16382201-16382201
GRCh38: 1:16055706-16055706

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

72
# Symbol AA change Variation ID SNP ID
1 SLC25A4 p.Arg80His VAR_078071 rs886041081
2 SLC25A4 p.Arg235Gly VAR_078072 rs886041082

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 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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