COXPD30
MCID: CMB077
MIFTS: 33

Combined Oxidative Phosphorylation Deficiency 30 (COXPD30)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 30

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 30:

Name: Combined Oxidative Phosphorylation Deficiency 30 57 12 72 29 6 15
Coxpd30 57 12 58 72
Combined Oxidative Phosphorylation Defect Type 30 58 17
Combined Oxidative Phosphorylation Deficiency, Type 30 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in infancy may occur
two unrelated patients have been reported (last curated june 2016)


HPO:

31
combined oxidative phosphorylation deficiency 30:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111471
OMIM® 57 616974
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA478042

Summaries for Combined Oxidative Phosphorylation Deficiency 30

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 30: An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 30, also known as coxpd30, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and cardiomyopathy, infantile hypertrophic. An important gene associated with Combined Oxidative Phosphorylation Deficiency 30 is TRMT10C (TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include skeletal muscle and liver, and related phenotypes are left ventricular hypertrophy and failure to thrive

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3.

More information from OMIM: 616974 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 30

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 30:



Diseases related to Combined Oxidative Phosphorylation Deficiency 30

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 30

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 30:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 failure to thrive 31 HP:0001508
3 gastroesophageal reflux 31 HP:0002020
4 elevated hepatic transaminase 31 HP:0002910
5 increased serum lactate 31 HP:0002151
6 increased csf lactate 31 HP:0002490
7 lactic acidosis 31 HP:0003128
8 feeding difficulties 31 HP:0011968
9 generalized hypotonia 31 HP:0001290
10 hyperalaninemia 31 HP:0003348
11 decreased liver function 31 HP:0001410

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
abnormal liver enzymes
increased serum alanine

Muscle Soft Tissue:
hypotonia
ragged red fibers
cox-deficient fibers
decreased levels of mitochondrial respiratory complexes i, iii, and iv

Abdomen Liver:
liver dysfunction

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Metabolic Features:
lactic acidosis

Head And Neck Ears:
deafness, sensorineural

Cardiovascular Heart:
left ventricular hypertrophy (1 patient)

Clinical features from OMIM®:

616974 (Updated 05-Apr-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 30

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 30

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 30

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 30:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 30 29 TRMT10C

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 30

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 30:

40
Skeletal Muscle, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 30

Articles related to Combined Oxidative Phosphorylation Deficiency 30:

# Title Authors PMID Year
1
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. 57 6
27132592 2016

Variations for Combined Oxidative Phosphorylation Deficiency 30

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 30:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRMT10C NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) SNV Pathogenic 224316 rs199730889 GRCh37: 3:101284167-101284167
GRCh38: 3:101565323-101565323
2 TRMT10C NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) SNV Pathogenic 224317 rs875989831 GRCh37: 3:101284439-101284439
GRCh38: 3:101565595-101565595
3 TRMT10C NM_017819.4(TRMT10C):c.197G>A (p.Trp66Ter) SNV Pathogenic 998382 GRCh37: 3:101283822-101283822
GRCh38: 3:101564978-101564978
4 TRMT10C NM_017819.4(TRMT10C):c.393dup (p.Tyr132fs) Duplication Pathogenic 1033449 GRCh37: 3:101284008-101284009
GRCh38: 3:101565164-101565165

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 30:

72
# Symbol AA change Variation ID SNP ID
1 TRMT10C p.Arg181Leu VAR_076993 rs199730889
2 TRMT10C p.Thr272Ala VAR_076994 rs875989831

Expression for Combined Oxidative Phosphorylation Deficiency 30

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 30.

Pathways for Combined Oxidative Phosphorylation Deficiency 30

GO Terms for Combined Oxidative Phosphorylation Deficiency 30

Cellular components related to Combined Oxidative Phosphorylation Deficiency 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 TRMT61B TRMT5 TRMT10C TRMT10B TRMT10A HSD17B10
2 mitochondrial matrix GO:0005759 9.55 TRMT61B TRMT5 TRMT10C HSD17B10 C1QBP
3 mitochondrial nucleoid GO:0042645 9.32 TRMT10C HSD17B10
4 mitochondrial ribonuclease P complex GO:0030678 9.26 TRMT10C HSD17B10
5 tRNA (m1A) methyltransferase complex GO:0031515 8.8 TRMT61B TRMT61A TRMT6

Biological processes related to Combined Oxidative Phosphorylation Deficiency 30 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.85 TRMT61B TRMT61A TRMT5 TRMT10C TRMT10B TRMT10A
2 tRNA processing GO:0008033 9.73 TRMT61B TRMT61A TRMT6 TRMT5 TRMT10C HSD17B10
3 mRNA methylation GO:0080009 9.62 TRMT61B TRMT61A TRMT6 TRMT10C
4 tRNA modification GO:0006400 9.49 TRMT61A TRMT6
5 positive regulation of mitochondrial translation GO:0070131 9.48 TRMT10C C1QBP
6 mitochondrial tRNA 3'-end processing GO:1990180 9.46 TRMT10C HSD17B10
7 mitochondrial tRNA processing GO:0090646 9.46 TRMT10C TRMT10B TRMT10A HSD17B10
8 mitochondrial tRNA 5'-end processing GO:0097745 9.43 TRMT10C HSD17B10
9 tRNA N1-guanine methylation GO:0002939 9.4 TRMT5 TRMT10A
10 mitochondrial tRNA methylation GO:0070901 9.26 TRMT61B TRMT5 TRMT10C HSD17B10
11 tRNA methylation GO:0030488 9.17 TRMT61B TRMT61A TRMT6 TRMT5 TRMT10C TRMT10B

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 TRMT61B TRMT61A TRMT5 TRMT10C TRMT10B TRMT10A
2 tRNA binding GO:0000049 9.67 TRMT10C TRMT10B TRMT10A HSD17B10
3 methyltransferase activity GO:0008168 9.63 TRMT61B TRMT61A TRMT5 TRMT10C TRMT10B TRMT10A
4 mRNA (adenine-N1-)-methyltransferase activity GO:0061953 9.5 TRMT61B TRMT61A TRMT10C
5 tRNA (guanine(9)-N(1))-methyltransferase activity GO:0052905 9.43 TRMT10C TRMT10B TRMT10A
6 estradiol 17-beta-dehydrogenase activity GO:0004303 9.4 HSD17B10 DHRS11
7 tRNA (adenine-N1-)-methyltransferase activity GO:0016429 9.26 TRMT61B TRMT61A TRMT6 TRMT10C
8 tRNA (guanine-N1-)-methyltransferase activity GO:0009019 8.92 TRMT5 TRMT10C TRMT10B TRMT10A

Sources for Combined Oxidative Phosphorylation Deficiency 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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