MPCD
MCID: MTC037
MIFTS: 22

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 57 75 37 29 13 6 40 73
Mpcd 57 75
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
Orphanet 59 ORPHA91130
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 74 C1835845
MedGen 42 C1835845
KEGG 37 H01348
UMLS 73 C1835845

Summaries for Mitochondrial Phosphate Carrier Deficiency

UniProtKB/Swiss-Prot : 75 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 failure to thrive

Description from OMIM: 610773

Related Diseases for Mitochondrial Phosphate Carrier Deficiency

Symptoms & Phenotypes for Mitochondrial Phosphate Carrier Deficiency

Clinical features from OMIM:

610773

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

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

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:

75
# 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 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
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