MCID: CMB077
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 30

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 75 6
Coxpd30 57 59 75
Combined Oxidative Phosphorylation Deficiency, Type 30 40
Combined Oxidative Phosphorylation Defect Type 30 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 generalized hypotonia and decreased liver function

Description from OMIM: 616974

Related Diseases for Combined Oxidative Phosphorylation Deficiency 30

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 30

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 30:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 32 HP:0001290
2 decreased liver function 32 HP:0001410
3 failure to thrive 32 HP:0001508
4 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
5 gastroesophageal reflux 32 HP:0002020
6 increased serum lactate 32 HP:0002151
7 increased csf lactate 32 HP:0002490
8 elevated hepatic transaminases 32 HP:0002910
9 lactic acidosis 32 HP:0003128
10 hyperalaninemia 32 HP:0003348
11 feeding difficulties 32 HP:0011968

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

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 30

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

41
Skeletal Muscle, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 30

Variations for Combined Oxidative Phosphorylation Deficiency 30

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

75
# 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 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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