MCID: MTC037
MIFTS: 21

Mitochondrial Phosphate Carrier Deficiency

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

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 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
3 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
4 increased serum lactate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002151
5 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
6 abnormality of the mitochondrion 59 32 hallmark (90%) Very frequent (99-80%) HP:0012103
7 cyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0000961
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
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

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

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