MPCD
MCID: MTC037
MIFTS: 20

Mitochondrial Phosphate Carrier Deficiency (MPCD)

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

Aliases & Classifications for Mitochondrial Phosphate Carrier Deficiency

MalaCards integrated aliases for Mitochondrial Phosphate Carrier Deficiency:

Name: Mitochondrial Phosphate Carrier Deficiency 58 76 38 30 13 6 41 74
Mpcd 58 76
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cardiomyopathy-hypotonia-lactic acidosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

33
mitochondrial phosphate carrier deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 610773
KEGG 38 H01348
ICD10 via Orphanet 35 G71.3
UMLS via Orphanet 75 C1835845
Orphanet 60 ORPHA91130
MedGen 43 C1835845
UMLS 74 C1835845

Summaries for Mitochondrial Phosphate Carrier Deficiency

UniProtKB/Swiss-Prot : 76 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.

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

Description from OMIM: 610773

Related Diseases for Mitochondrial Phosphate Carrier Deficiency

Symptoms & Phenotypes for Mitochondrial Phosphate Carrier Deficiency

Human phenotypes related to Mitochondrial Phosphate Carrier Deficiency:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
3 increased serum lactate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002151
4 lactic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003128
5 metabolic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001942
6 abnormality of the mitochondrion 60 33 hallmark (90%) Very frequent (99-80%) HP:0012103
7 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
8 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
9 cyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0000961
10 low-output congestive heart failure 60 33 frequent (33%) Frequent (79-30%) HP:0009805
11 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
12 respiratory insufficiency 33 HP:0002093
13 abnormal mitochondrial shape 33 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 30 SLC25A3

Anatomical Context for Mitochondrial Phosphate Carrier Deficiency

MalaCards organs/tissues related to Mitochondrial Phosphate Carrier Deficiency:

42
Heart

Publications for Mitochondrial Phosphate Carrier Deficiency

Articles related to Mitochondrial Phosphate Carrier Deficiency:

# Title Authors Year
1
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. ( 17273968 )
2007
2
MPCD: a new interactive on-line crystallization data bank for screening strategies. ( 17057333 )
2006

Variations for Mitochondrial Phosphate Carrier Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 SLC25A3 p.Gly72Glu VAR_032850 rs104894375

ClinVar genetic disease variations for Mitochondrial Phosphate Carrier Deficiency:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A3 NM_005888.3(SLC25A3): c.215G> A (p.Gly72Glu) single nucleotide variant Pathogenic rs104894375 GRCh37 Chromosome 12, 98989268: 98989268
2 SLC25A3 NM_005888.3(SLC25A3): c.215G> A (p.Gly72Glu) single nucleotide variant Pathogenic rs104894375 GRCh38 Chromosome 12, 98595490: 98595490
3 SLC25A3 NM_005888.3(SLC25A3): c.439T> C (p.Leu147=) single nucleotide variant Benign/Likely benign rs11544648 GRCh37 Chromosome 12, 98991790: 98991790
4 SLC25A3 NM_005888.3(SLC25A3): c.439T> C (p.Leu147=) single nucleotide variant Benign/Likely benign rs11544648 GRCh38 Chromosome 12, 98598012: 98598012
5 SLC25A3 NM_005888.3(SLC25A3): c.-92G> A single nucleotide variant Uncertain significance rs115763433 GRCh37 Chromosome 12, 98987431: 98987431
6 SLC25A3 NM_005888.3(SLC25A3): c.-92G> A single nucleotide variant Uncertain significance rs115763433 GRCh38 Chromosome 12, 98593653: 98593653
7 SLC25A3 NM_005888.3(SLC25A3): c.-74C> T single nucleotide variant Uncertain significance rs532766014 GRCh37 Chromosome 12, 98987449: 98987449
8 SLC25A3 NM_005888.3(SLC25A3): c.-74C> T single nucleotide variant Uncertain significance rs532766014 GRCh38 Chromosome 12, 98593671: 98593671
9 SLC25A3 NM_005888.3(SLC25A3): c.-38C> T single nucleotide variant Uncertain significance rs542602103 GRCh37 Chromosome 12, 98987485: 98987485
10 SLC25A3 NM_005888.3(SLC25A3): c.-38C> T single nucleotide variant Uncertain significance rs542602103 GRCh38 Chromosome 12, 98593707: 98593707
11 SLC25A3 NM_005888.3(SLC25A3): c.4T> C (p.Phe2Leu) single nucleotide variant Uncertain significance rs886049919 GRCh37 Chromosome 12, 98987760: 98987760
12 SLC25A3 NM_005888.3(SLC25A3): c.4T> C (p.Phe2Leu) single nucleotide variant Uncertain significance rs886049919 GRCh38 Chromosome 12, 98593982: 98593982
13 SLC25A3 NM_005888.3(SLC25A3): c.474T> C (p.Tyr158=) single nucleotide variant Conflicting interpretations of pathogenicity rs531425336 GRCh37 Chromosome 12, 98992311: 98992311
14 SLC25A3 NM_005888.3(SLC25A3): c.474T> C (p.Tyr158=) single nucleotide variant Conflicting interpretations of pathogenicity rs531425336 GRCh38 Chromosome 12, 98598533: 98598533
15 SLC25A3 NM_005888.3(SLC25A3): c.*211T> A single nucleotide variant Likely benign rs76488843 GRCh38 Chromosome 12, 98601739: 98601739
16 SLC25A3 NM_005888.3(SLC25A3): c.*211T> A single nucleotide variant Likely benign rs76488843 GRCh37 Chromosome 12, 98995517: 98995517
17 SLC25A3 NM_005888.3(SLC25A3): c.-78G> A single nucleotide variant Likely benign rs28372744 GRCh37 Chromosome 12, 98987445: 98987445
18 SLC25A3 NM_005888.3(SLC25A3): c.-78G> A single nucleotide variant Likely benign rs28372744 GRCh38 Chromosome 12, 98593667: 98593667
19 SLC25A3 NM_005888.3(SLC25A3): c.*94T> C single nucleotide variant Uncertain significance rs886049921 GRCh38 Chromosome 12, 98601622: 98601622
20 SLC25A3 NM_005888.3(SLC25A3): c.*94T> C single nucleotide variant Uncertain significance rs886049921 GRCh37 Chromosome 12, 98995400: 98995400
21 SLC25A3 NM_005888.3(SLC25A3): c.*360delC deletion Uncertain significance rs886049922 GRCh38 Chromosome 12, 98601888: 98601888
22 SLC25A3 NM_005888.3(SLC25A3): c.*360delC deletion Uncertain significance rs886049922 GRCh37 Chromosome 12, 98995666: 98995666
23 SLC25A3 NM_005888.3(SLC25A3): c.*411T> C single nucleotide variant Uncertain significance rs757599299 GRCh38 Chromosome 12, 98601939: 98601939
24 SLC25A3 NM_005888.3(SLC25A3): c.*411T> C single nucleotide variant Uncertain significance rs757599299 GRCh37 Chromosome 12, 98995717: 98995717
25 SLC25A3 NM_005888.3(SLC25A3): c.-4-7C> T single nucleotide variant Uncertain significance rs766677386 GRCh37 Chromosome 12, 98987746: 98987746
26 SLC25A3 NM_005888.3(SLC25A3): c.-4-7C> T single nucleotide variant Uncertain significance rs766677386 GRCh38 Chromosome 12, 98593968: 98593968
27 SLC25A3 NM_005888.3(SLC25A3): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs772819565 GRCh37 Chromosome 12, 98993806: 98993806
28 SLC25A3 NM_005888.3(SLC25A3): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs772819565 GRCh38 Chromosome 12, 98600028: 98600028
29 SLC25A3 NM_005888.3(SLC25A3): c.817+4C> T single nucleotide variant Uncertain significance rs886049920 GRCh38 Chromosome 12, 98600131: 98600131
30 SLC25A3 NM_005888.3(SLC25A3): c.817+4C> T single nucleotide variant Uncertain significance rs886049920 GRCh37 Chromosome 12, 98993909: 98993909
31 SLC25A3 NM_005888.3(SLC25A3): c.817+5G> T single nucleotide variant Uncertain significance rs200029342 GRCh38 Chromosome 12, 98600132: 98600132
32 SLC25A3 NM_005888.3(SLC25A3): c.817+5G> T single nucleotide variant Uncertain significance rs200029342 GRCh37 Chromosome 12, 98993910: 98993910
33 SLC25A3 NM_005888.3(SLC25A3): c.*102C> A single nucleotide variant Uncertain significance rs74604883 GRCh38 Chromosome 12, 98601630: 98601630
34 SLC25A3 NM_005888.3(SLC25A3): c.*102C> A single nucleotide variant Uncertain significance rs74604883 GRCh37 Chromosome 12, 98995408: 98995408
35 SLC25A3 NM_005888.3(SLC25A3): c.*255T> G single nucleotide variant Uncertain significance rs540509043 GRCh38 Chromosome 12, 98601783: 98601783
36 SLC25A3 NM_005888.3(SLC25A3): c.*255T> G single nucleotide variant Uncertain significance rs540509043 GRCh37 Chromosome 12, 98995561: 98995561
37 SLC25A3 NM_005888.3(SLC25A3): c.-120G> C single nucleotide variant Uncertain significance rs774325459 GRCh37 Chromosome 12, 98987403: 98987403
38 SLC25A3 NM_005888.3(SLC25A3): c.-120G> C single nucleotide variant Uncertain significance rs774325459 GRCh38 Chromosome 12, 98593625: 98593625
39 SLC25A3 NM_005888.3(SLC25A3): c.-61G> T single nucleotide variant Uncertain significance rs886049918 GRCh37 Chromosome 12, 98987462: 98987462
40 SLC25A3 NM_005888.3(SLC25A3): c.-61G> T single nucleotide variant Uncertain significance rs886049918 GRCh38 Chromosome 12, 98593684: 98593684
41 SLC25A3 NM_005888.3(SLC25A3): c.861G> T (p.Val287=) single nucleotide variant Uncertain significance rs750516275 GRCh38 Chromosome 12, 98601214: 98601214
42 SLC25A3 NM_005888.3(SLC25A3): c.861G> T (p.Val287=) single nucleotide variant Uncertain significance rs750516275 GRCh37 Chromosome 12, 98994992: 98994992
43 SLC25A3 NM_005888.3(SLC25A3): c.*221T> G single nucleotide variant Likely benign rs115173420 GRCh38 Chromosome 12, 98601749: 98601749
44 SLC25A3 NM_005888.3(SLC25A3): c.*221T> G single nucleotide variant Likely benign rs115173420 GRCh37 Chromosome 12, 98995527: 98995527

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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