MPCD
MCID: MTC037
MIFTS: 29

Mitochondrial Phosphate Carrier Deficiency (MPCD)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Mitochondrial Phosphate Carrier Deficiency

MalaCards integrated aliases for Mitochondrial Phosphate Carrier Deficiency:

Name: Mitochondrial Phosphate Carrier Deficiency 57 74 37 29 13 6 40 72
Mpcd 57 74
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cardiomyopathy-hypotonia-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

32
mitochondrial phosphate carrier deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 610773
KEGG 37 H01348
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 73 C1835845
Orphanet 59 ORPHA91130
MedGen 42 C1835845
UMLS 72 C1835845

Summaries for Mitochondrial Phosphate Carrier Deficiency

KEGG : 37
Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia.

MalaCards based summary : Mitochondrial Phosphate Carrier Deficiency, also known as mpcd, is related to lactic acidosis and hypertrophic cardiomyopathy. An important gene associated with Mitochondrial Phosphate Carrier Deficiency is SLC25A3 (Solute Carrier Family 25 Member 3). Affiliated tissues include heart and endothelial, and related phenotypes are muscular hypotonia and hypertrophic cardiomyopathy

UniProtKB/Swiss-Prot : 74 Mitochondrial phosphate carrier deficiency: Fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.

More information from OMIM: 610773

Related Diseases for Mitochondrial Phosphate Carrier Deficiency

Diseases related to Mitochondrial Phosphate Carrier Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.0
2 hypertrophic cardiomyopathy 10.0
3 hypotonia 10.0

Symptoms & Phenotypes for Mitochondrial Phosphate Carrier Deficiency

Human phenotypes related to Mitochondrial Phosphate Carrier Deficiency:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
3 increased serum lactate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002151
4 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
5 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
6 abnormality of the mitochondrion 59 32 hallmark (90%) Very frequent (99-80%) HP:0012103
7 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
8 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
9 cyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0000961
10 low-output congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0009805
11 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
12 respiratory insufficiency 32 HP:0002093
13 abnormal mitochondrial shape 32 HP:0012087

Clinical features from OMIM:

610773

Drugs & Therapeutics for Mitochondrial Phosphate Carrier Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Phosphate Carrier Deficiency

Genetic Tests for Mitochondrial Phosphate Carrier Deficiency

Genetic tests related to Mitochondrial Phosphate Carrier Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Phosphate Carrier Deficiency 29 SLC25A3

Anatomical Context for Mitochondrial Phosphate Carrier Deficiency

MalaCards organs/tissues related to Mitochondrial Phosphate Carrier Deficiency:

41
Heart, Endothelial

Publications for Mitochondrial Phosphate Carrier Deficiency

Articles related to Mitochondrial Phosphate Carrier Deficiency:

(show all 26)
# Title Authors PMID Year
1
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 38 8 71
17273968 2007
2
Multiparticle collision dynamics for tensorial nematodynamics. 38
31330733 2019
3
Recovery of 3D rib motion from dynamic chest radiography and CT data using local contrast normalization and articular motion model. 38
30439674 2019
4
Flow Behavior of Chain and Star Polymers and Their Mixtures. 38
30966633 2018
5
The effect of hydrodynamic interactions on nanoparticle diffusion in polymer solutions: a multiparticle collision dynamics study. 38
29115361 2017
6
Injectable, NIR/pH-Responsive Nanocomposite Hydrogel as Long-Acting Implant for Chemophotothermal Synergistic Cancer Therapy. 38
28532154 2017
7
Allopurinol use and the risk of acute cardiovascular events in patients with gout and diabetes. 38
28288564 2017
8
Combining cell-based hydrodynamics with hybrid particle-field simulations: efficient and realistic simulation of structuring dynamics. 38
28128838 2017
9
Multi-particle collision dynamics algorithm for nematic fluids. 38
26035731 2015
10
Treatment of pediatric spinal tuberculosis abscess with percutaneous drainage and low-dose local antituberculous therapy: a preliminary report. 38
25863949 2015
11
No-slip boundary conditions and forced flow in multiparticle collision dynamics. 38
23368074 2012
12
Simulations of free-solution electrophoresis of polyelectrolytes with a finite Debye length using the Debye-Hückel approximation. 38
23002891 2012
13
Inertial microfluidics with multi-particle collision dynamics. 38
22926809 2012
14
A different rescuer changing strategy between 30:2 cardiopulmonary resuscitation and hands-only cardiopulmonary resuscitation that considers rescuer factors: a randomised cross-over simulation study with a time-dependent analysis. 38
22101200 2012
15
Cutaneous and systemic plasmacytosis vs. cutaneous plasmacytic castleman disease: review and speculations about pathogenesis. 38
21940235 2011
16
Conformation and diffusion behavior of ring polymers in solution: a comparison between molecular dynamics, multiparticle collision dynamics, and lattice Boltzmann simulations. 38
22088075 2011
17
Effects of hydrodynamic interactions in binary colloidal mixtures driven oppositely by oscillatory external fields. 38
21709336 2011
18
Toxicological assessment of 3-chloropropane-1,2-diol and glycidol fatty acid esters in food. 38
21351250 2011
19
Detection of premature segregation of centromeres in persons exposed to ionizing radiation. 38
20386201 2010
20
[Hydrogen peroxide (H2O2) and methyl-beta-cyclodextrin (MPCD) down regulate caveolin expression in human lens epithelial cells (HLECs)]. 38
18318117 2007
21
Central versus paracentral endothelial cell density values in relation to duration of soft contact lens wear. 38
17630625 2007
22
MPCD: a new interactive on-line crystallization data bank for screening strategies. 38
17057333 2006
23
Dynamics of polymers in a particle-based mesoscopic solvent. 38
16238422 2005
24
Effects of yeast stress and pH on 3-monochloropropanediol (3-MCPD)-producing reactions in model dough systems. 38
16019837 2005
25
Microdialysis-coupled place cell detection in the hippocampus: a new strategy for the search for cognition enhancer drugs. 38
9061773 1997
26
The incidence of phagocytizing plasma cells in malignant plasma cell dyscrasias. 38
3738429 1986

Variations for Mitochondrial Phosphate Carrier Deficiency

ClinVar genetic disease variations for Mitochondrial Phosphate Carrier Deficiency:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A3 NM_002635.4(SLC25A3): c.158-237G> A single nucleotide variant Pathogenic rs104894375 12:98989268-98989268 12:98595490-98595490
2 SLC25A3 NM_002635.4(SLC25A3): c.471T> C (p.Tyr157=) single nucleotide variant Conflicting interpretations of pathogenicity rs531425336 12:98992311-98992311 12:98598533-98598533
3 SLC25A3 NM_005888.3(SLC25A3): c.-92G> A single nucleotide variant Uncertain significance rs115763433 12:98987431-98987431 12:98593653-98593653
4 SLC25A3 NM_005888.3(SLC25A3): c.-74C> T single nucleotide variant Uncertain significance rs532766014 12:98987449-98987449 12:98593671-98593671
5 SLC25A3 NM_002635.4(SLC25A3): c.-38C> T single nucleotide variant Uncertain significance rs542602103 12:98987485-98987485 12:98593707-98593707
6 SLC25A3 NM_002635.4(SLC25A3): c.4T> C (p.Phe2Leu) single nucleotide variant Uncertain significance rs886049919 12:98987760-98987760 12:98593982-98593982
7 SLC25A3 NM_002635.4(SLC25A3): c.*94T> C single nucleotide variant Uncertain significance rs886049921 12:98995400-98995400 12:98601622-98601622
8 SLC25A3 NM_002635.4(SLC25A3): c.*360del deletion Uncertain significance rs886049922 12:98995666-98995666 12:98601888-98601888
9 SLC25A3 NM_002635.4(SLC25A3): c.*411T> C single nucleotide variant Uncertain significance rs757599299 12:98995717-98995717 12:98601939-98601939
10 SLC25A3 NM_002635.4(SLC25A3): c.-4-7C> T single nucleotide variant Uncertain significance rs766677386 12:98987746-98987746 12:98593968-98593968
11 SLC25A3 NM_002635.4(SLC25A3): c.715C> T (p.Arg239Cys) single nucleotide variant Uncertain significance rs772819565 12:98993806-98993806 12:98600028-98600028
12 SLC25A3 NM_002635.4(SLC25A3): c.814+4C> T single nucleotide variant Uncertain significance rs886049920 12:98993909-98993909 12:98600131-98600131
13 SLC25A3 NM_002635.4(SLC25A3): c.814+5G> T single nucleotide variant Uncertain significance rs200029342 12:98993910-98993910 12:98600132-98600132
14 SLC25A3 NM_002635.4(SLC25A3): c.*102C> A single nucleotide variant Uncertain significance rs74604883 12:98995408-98995408 12:98601630-98601630
15 SLC25A3 NM_002635.4(SLC25A3): c.*255T> G single nucleotide variant Uncertain significance rs540509043 12:98995561-98995561 12:98601783-98601783
16 SLC25A3 NM_005888.3(SLC25A3): c.-120G> C single nucleotide variant Uncertain significance rs774325459 12:98987403-98987403 12:98593625-98593625
17 SLC25A3 NM_005888.3(SLC25A3): c.-61G> T single nucleotide variant Uncertain significance rs886049918 12:98987462-98987462 12:98593684-98593684
18 SLC25A3 NM_002635.4(SLC25A3): c.858G> T (p.Val286=) single nucleotide variant Uncertain significance rs750516275 12:98994992-98994992 12:98601214-98601214
19 SLC25A3 NM_002635.4(SLC25A3): c.*221T> G single nucleotide variant Likely benign rs115173420 12:98995527-98995527 12:98601749-98601749
20 SLC25A3 NM_002635.4(SLC25A3): c.*211T> A single nucleotide variant Likely benign rs76488843 12:98995517-98995517 12:98601739-98601739
21 SLC25A3 NM_005888.3(SLC25A3): c.-78G> A single nucleotide variant Likely benign rs28372744 12:98987445-98987445 12:98593667-98593667
22 SLC25A3 NM_002635.4(SLC25A3): c.436T> C (p.Leu146=) single nucleotide variant Benign/Likely benign rs11544648 12:98991790-98991790 12:98598012-98598012

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Phosphate Carrier Deficiency:

74
# Symbol AA change Variation ID SNP ID
1 SLC25A3 p.Gly72Glu VAR_032850 rs104894375

Expression for Mitochondrial Phosphate Carrier Deficiency

Search GEO for disease gene expression data for Mitochondrial Phosphate Carrier Deficiency.

Pathways for Mitochondrial Phosphate Carrier Deficiency

GO Terms for Mitochondrial Phosphate Carrier Deficiency

Sources for Mitochondrial Phosphate Carrier Deficiency

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