COXPD30
MCID: CMB077
MIFTS: 20

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 58 76 30 6
Coxpd30 58 60 76
Combined Oxidative Phosphorylation Defect Type 30 60 17
Combined Oxidative Phosphorylation Deficiency, Type 30 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
combined oxidative phosphorylation deficiency 30:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 30

UniProtKB/Swiss-Prot : 76 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, is also known as coxpd30. An important gene associated with Combined Oxidative Phosphorylation Deficiency 30 is TRMT10C (TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit). Affiliated tissues include skeletal muscle and liver, and related phenotypes are left ventricular hypertrophy and failure to thrive

Description from OMIM: 616974

Related Diseases for Combined Oxidative Phosphorylation Deficiency 30

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 30

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 30:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
2 failure to thrive 33 HP:0001508
3 gastroesophageal reflux 33 HP:0002020
4 decreased liver function 33 HP:0001410
5 feeding difficulties 33 HP:0011968
6 elevated hepatic transaminase 33 HP:0002910
7 increased serum lactate 33 HP:0002151
8 lactic acidosis 33 HP:0003128
9 generalized hypotonia 33 HP:0001290
10 hyperalaninemia 33 HP:0003348
11 increased csf lactate 33 HP:0002490

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TRMT10C

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 30

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

42
Skeletal Muscle, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 30

Articles related to Combined Oxidative Phosphorylation Deficiency 30:

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

Variations for Combined Oxidative Phosphorylation Deficiency 30

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

76
# Symbol AA change Variation ID SNP ID
1 TRMT10C p.Arg181Leu VAR_076993 rs199730889
2 TRMT10C p.Thr272Ala VAR_076994 rs875989831

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 30:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMT10C NM_017819.3(TRMT10C): c.542G> T (p.Arg181Leu) single nucleotide variant Pathogenic rs199730889 GRCh37 Chromosome 3, 101284167: 101284167
2 TRMT10C NM_017819.3(TRMT10C): c.542G> T (p.Arg181Leu) single nucleotide variant Pathogenic rs199730889 GRCh38 Chromosome 3, 101565323: 101565323
3 TRMT10C NM_017819.3(TRMT10C): c.814A> G (p.Thr272Ala) single nucleotide variant Pathogenic rs875989831 GRCh37 Chromosome 3, 101284439: 101284439
4 TRMT10C NM_017819.3(TRMT10C): c.814A> G (p.Thr272Ala) single nucleotide variant Pathogenic rs875989831 GRCh38 Chromosome 3, 101565595: 101565595

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

Sources for Combined Oxidative Phosphorylation Deficiency 30

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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