MPCD
MCID: MTC037
MIFTS: 34

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 56 73 36 29 13 6 39 71
Mpcd 56 73
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cardiomyopathy-hypotonia-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

31
mitochondrial phosphate carrier deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 610773
KEGG 36 H01348
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C1835845
Orphanet 58 ORPHA91130
MedGen 41 C1835845
UMLS 71 C1835845

Summaries for Mitochondrial Phosphate Carrier Deficiency

KEGG : 36 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 hypertrophic cardiomyopathy and lactic acidosis. An important gene associated with Mitochondrial Phosphate Carrier Deficiency is SLC25A3 (Solute Carrier Family 25 Member 3). The drugs leucovorin and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart and endothelial, and related phenotypes are muscular hypotonia and hypertrophic cardiomyopathy

UniProtKB/Swiss-Prot : 73 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 hypertrophic cardiomyopathy 10.0
2 lactic acidosis 10.0
3 hypotonia 10.0

Symptoms & Phenotypes for Mitochondrial Phosphate Carrier Deficiency

Human phenotypes related to Mitochondrial Phosphate Carrier Deficiency:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
3 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
4 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
5 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
6 abnormality of the mitochondrion 58 31 hallmark (90%) Very frequent (99-80%) HP:0012103
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
9 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
10 low-output congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0009805
11 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
12 respiratory insufficiency 31 HP:0002093
13 abnormal mitochondrial shape 31 HP:0012087

Clinical features from OMIM:

610773

Drugs & Therapeutics for Mitochondrial Phosphate Carrier Deficiency

Drugs for Mitochondrial Phosphate Carrier Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 6006 143
2
Methotrexate Approved 59-05-2, 1959-05-2 126941
3
Aldesleukin Approved 85898-30-2, 110942-02-4
4
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
5 Immunologic Factors
6 Anti-Infective Agents
7 Vitamin B Complex
8 Pharmaceutical Solutions
9 Anti-HIV Agents
10 Analgesics, Non-Narcotic
11 Folic Acid Antagonists
12 Antiviral Agents
13 Immunosuppressive Agents
14 Dermatologic Agents
15 Analgesics
16 Interleukin-2
17 Folate
18 Anti-Retroviral Agents
19 Antirheumatic Agents
20 Vitamin B9
21 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Effectiveness of Microparticles Packaging Chemotherapeutic Drugs(MPCD) Therapy on the Treatment of Malignant Pleural Effusion Not yet recruiting NCT04131231 microparticles packaging methotrexate (MPs-MTX);recombinant human interleukin-2(rhIL-2)

Search 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:

40
Heart, Endothelial

Publications for Mitochondrial Phosphate Carrier Deficiency

Articles related to Mitochondrial Phosphate Carrier Deficiency:

(show all 27)
# Title Authors PMID Year
1
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 61 6 56
17273968 2007
2
Multi-particle collision dynamics for a coarse-grained model of soft colloids. 61
31438712 2019
3
Multiparticle collision dynamics for tensorial nematodynamics. 61
31330733 2019
4
Recovery of 3D rib motion from dynamic chest radiography and CT data using local contrast normalization and articular motion model. 61
30439674 2019
5
Flow Behavior of Chain and Star Polymers and Their Mixtures. 61
30966633 2018
6
The effect of hydrodynamic interactions on nanoparticle diffusion in polymer solutions: a multiparticle collision dynamics study. 61
29115361 2017
7
Injectable, NIR/pH-Responsive Nanocomposite Hydrogel as Long-Acting Implant for Chemophotothermal Synergistic Cancer Therapy. 61
28532154 2017
8
Allopurinol use and the risk of acute cardiovascular events in patients with gout and diabetes. 61
28288564 2017
9
Combining cell-based hydrodynamics with hybrid particle-field simulations: efficient and realistic simulation of structuring dynamics. 61
28128838 2017
10
Multi-particle collision dynamics algorithm for nematic fluids. 61
26035731 2015
11
Treatment of pediatric spinal tuberculosis abscess with percutaneous drainage and low-dose local antituberculous therapy: a preliminary report. 61
25863949 2015
12
No-slip boundary conditions and forced flow in multiparticle collision dynamics. 61
23368074 2012
13
Simulations of free-solution electrophoresis of polyelectrolytes with a finite Debye length using the Debye-Hückel approximation. 61
23002891 2012
14
Inertial microfluidics with multi-particle collision dynamics. 61
22926809 2012
15
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. 61
22101200 2012
16
Cutaneous and systemic plasmacytosis vs. cutaneous plasmacytic castleman disease: review and speculations about pathogenesis. 61
21940235 2011
17
Conformation and diffusion behavior of ring polymers in solution: a comparison between molecular dynamics, multiparticle collision dynamics, and lattice Boltzmann simulations. 61
22088075 2011
18
Effects of hydrodynamic interactions in binary colloidal mixtures driven oppositely by oscillatory external fields. 61
21709336 2011
19
Toxicological assessment of 3-chloropropane-1,2-diol and glycidol fatty acid esters in food. 61
21351250 2011
20
Detection of premature segregation of centromeres in persons exposed to ionizing radiation. 61
20386201 2010
21
[Hydrogen peroxide (H2O2) and methyl-beta-cyclodextrin (MPCD) down regulate caveolin expression in human lens epithelial cells (HLECs)]. 61
18318117 2007
22
Central versus paracentral endothelial cell density values in relation to duration of soft contact lens wear. 61
17630625 2007
23
MPCD: a new interactive on-line crystallization data bank for screening strategies. 61
17057333 2006
24
Dynamics of polymers in a particle-based mesoscopic solvent. 61
16238422 2005
25
Effects of yeast stress and pH on 3-monochloropropanediol (3-MCPD)-producing reactions in model dough systems. 61
16019837 2005
26
Microdialysis-coupled place cell detection in the hippocampus: a new strategy for the search for cognition enhancer drugs. 61
9061773 1997
27
The incidence of phagocytizing plasma cells in malignant plasma cell dyscrasias. 61
3738429 1986

Variations for Mitochondrial Phosphate Carrier Deficiency

ClinVar genetic disease variations for Mitochondrial Phosphate Carrier Deficiency:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A3 NM_002635.4(SLC25A3):c.158-237G>ASNV Pathogenic 9149 rs104894375 12:98989268-98989268 12:98595490-98595490
2 SLC25A3 NM_002635.4(SLC25A3):c.147C>A (p.Ala49=)SNV Conflicting interpretations of pathogenicity 508848 rs370367708 12:98987903-98987903 12:98594125-98594125
3 SLC25A3 NM_005888.3(SLC25A3):c.-69G>ASNV Uncertain significance 883934 12:98987454-98987454 12:98593676-98593676
4 SLC25A3 NM_002635.4(SLC25A3):c.61C>T (p.Leu21=)SNV Uncertain significance 880645 12:98987817-98987817 12:98594039-98594039
5 SLC25A3 NM_002635.4(SLC25A3):c.75T>C (p.Gly25=)SNV Uncertain significance 880646 12:98987831-98987831 12:98594053-98594053
6 SLC25A3 NM_002635.4(SLC25A3):c.312C>T (p.Asn104=)SNV Uncertain significance 880647 12:98991666-98991666 12:98597888-98597888
7 SLC25A3 NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=)SNV Uncertain significance 882065 12:98993739-98993739 12:98599961-98599961
8 SLC25A3 NM_002635.4(SLC25A3):c.666C>G (p.Leu222=)SNV Uncertain significance 882066 12:98993757-98993757 12:98599979-98599979
9 SLC25A3 NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=)SNV Uncertain significance 883212 12:98995240-98995240 12:98601462-98601462
10 SLC25A3 NM_002635.4(SLC25A3):c.*254A>GSNV Uncertain significance 883213 12:98995560-98995560 12:98601782-98601782
11 SLC25A3 NM_002635.4(SLC25A3):c.*296G>TSNV Uncertain significance 883214 12:98995602-98995602 12:98601824-98601824
12 SLC25A3 NM_002635.4(SLC25A3):c.*316A>GSNV Uncertain significance 884003 12:98995622-98995622 12:98601844-98601844
13 SLC25A3 NM_002635.4(SLC25A3):c.*429C>GSNV Uncertain significance 884004 12:98995735-98995735 12:98601957-98601957
14 SLC25A3 NM_002635.4(SLC25A3):c.*94T>CSNV Uncertain significance 310804 rs886049921 12:98995400-98995400 12:98601622-98601622
15 SLC25A3 NM_002635.4(SLC25A3):c.*360deldeletion Uncertain significance 310809 rs886049922 12:98995665-98995665 12:98601887-98601887
16 SLC25A3 NM_002635.4(SLC25A3):c.*411T>CSNV Uncertain significance 310810 rs757599299 12:98995717-98995717 12:98601939-98601939
17 SLC25A3 NM_002635.4(SLC25A3):c.-4-7C>TSNV Uncertain significance 310796 rs766677386 12:98987746-98987746 12:98593968-98593968
18 SLC25A3 NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys)SNV Uncertain significance 310799 rs772819565 12:98993806-98993806 12:98600028-98600028
19 SLC25A3 NM_002635.4(SLC25A3):c.814+4C>TSNV Uncertain significance 310800 rs886049920 12:98993909-98993909 12:98600131-98600131
20 SLC25A3 NM_002635.4(SLC25A3):c.814+5G>TSNV Uncertain significance 310801 rs200029342 12:98993910-98993910 12:98600132-98600132
21 SLC25A3 NM_002635.4(SLC25A3):c.-38C>TSNV Uncertain significance 310795 rs542602103 12:98987485-98987485 12:98593707-98593707
22 SLC25A3 NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu)SNV Uncertain significance 310797 rs886049919 12:98987760-98987760 12:98593982-98593982
23 SLC25A3 NM_002635.4(SLC25A3):c.*255T>GSNV Uncertain significance 310808 rs540509043 12:98995561-98995561 12:98601783-98601783
24 SLC25A3 NM_005888.3(SLC25A3):c.-120G>CSNV Uncertain significance 310790 rs774325459 12:98987403-98987403 12:98593625-98593625
25 SLC25A3 NM_005888.3(SLC25A3):c.-61G>TSNV Uncertain significance 310794 rs886049918 12:98987462-98987462 12:98593684-98593684
26 SLC25A3 NM_002635.4(SLC25A3):c.858G>T (p.Val286=)SNV Uncertain significance 310803 rs750516275 12:98994992-98994992 12:98601214-98601214
27 SLC25A3 NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=)SNV Likely benign 310798 rs531425336 12:98992311-98992311 12:98598533-98598533
28 SLC25A3 NM_005888.3(SLC25A3):c.-74C>TSNV Likely benign 310793 rs532766014 12:98987449-98987449 12:98593671-98593671
29 SLC25A3 NM_002635.4(SLC25A3):c.436T>C (p.Leu146=)SNV Benign 139148 rs11544648 12:98991790-98991790 12:98598012-98598012
30 SLC25A3 NM_005888.3(SLC25A3):c.-92G>ASNV Benign 310791 rs115763433 12:98987431-98987431 12:98593653-98593653
31 SLC25A3 NM_002635.4(SLC25A3):c.*211T>ASNV Benign 310806 rs76488843 12:98995517-98995517 12:98601739-98601739
32 SLC25A3 NM_005888.3(SLC25A3):c.-78G>ASNV Benign 310792 rs28372744 12:98987445-98987445 12:98593667-98593667
33 SLC25A3 NM_002635.4(SLC25A3):c.*221T>GSNV Benign 310807 rs115173420 12:98995527-98995527 12:98601749-98601749
34 SLC25A3 NM_002635.4(SLC25A3):c.*102C>ASNV Benign 310805 rs74604883 12:98995408-98995408 12:98601630-98601630

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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