COXPD26
MCID: CMB065
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 26 (COXPD26)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 26

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 26:

Name: Combined Oxidative Phosphorylation Deficiency 26 58 76 30 6
Coxpd26 58 60 76
Combined Oxidative Phosphorylation Defect Type 26 60 17
Oxidative Phosphorylation Deficiency, Combined, Type 26 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in infancy or early childhood
two unrelated patients have been reported (last curated august 2015)


HPO:

33
combined oxidative phosphorylation deficiency 26:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 26

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 26: A mitochondrial disorder characterized by lactic acidosis, multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, and additional variable features including hypertrophic cardiomyopathy, exercise intolerance, and failure to thrive.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 26, is also known as coxpd26. An important gene associated with Combined Oxidative Phosphorylation Deficiency 26 is TRMT5 (TRNA Methyltransferase 5). Affiliated tissues include skeletal muscle and brain, and related phenotypes are abnormal activity of mitochondrial respiratory chain and brain atrophy

Description from OMIM: 616539

Related Diseases for Combined Oxidative Phosphorylation Deficiency 26

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 26

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 26:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 abnormal activity of mitochondrial respiratory chain 33 obligate (100%) HP:0011922
2 brain atrophy 33 HP:0012444
3 spasticity 33 HP:0001257
4 muscle weakness 33 HP:0001324
5 hyperreflexia 33 HP:0001347
6 failure to thrive 33 HP:0001508
7 global developmental delay 33 HP:0001263
8 malabsorption 33 HP:0002024
9 cirrhosis 33 HP:0001394
10 babinski sign 33 HP:0003487
11 increased serum lactate 33 HP:0002151
12 narrow mouth 33 HP:0000160
13 hyporeflexia 33 HP:0001265
14 triangular face 33 HP:0000325
15 blue sclerae 33 HP:0000592
16 generalized hypotonia 33 HP:0001290
17 exercise intolerance 33 HP:0003546
18 exertional dyspnea 33 HP:0002875
19 poor speech 33 HP:0002465
20 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
increased serum lactate
variable decreased in mitochondrial respiratory complexes i, iii, and iv in skeletal muscle

Growth Other:
failure to thrive (patient b)
poor overall growth (patient b)

Head And Neck Eyes:
blue sclerae (patient b)

Head And Neck Teeth:
fused primary incisor (patient b)

Respiratory:
exertional dyspnea (patient a)

Abdomen Pancreas:
pancreatic exocrine deficiency (patient a)
pancreatic endocrine deficiency (patient a)

Genitourinary Kidneys:
renal tubulopathy (patient a)

Neurologic Peripheral Nervous System:
hyporeflexia (patient b)
delayed nerve conduction (patient b)

Neurologic Central Nervous System:
spasticity (patient a)
delayed psychomotor development (patient b)
poor speech (patient b)
inability to sit, stand, or walk unsupported (patient b)
hyperreflexia (patient a)
more
Head And Neck Face:
triangular face (patient b)

Head And Neck Mouth:
small mouth (patient b)

Cardiovascular Heart:
hypertrophic non-obstructive cardiomyopathy (patient b)

Abdomen Liver:
cirrhosis (patient a)

Abdomen Gastrointestinal:
malabsorption (patient a)

Muscle Soft Tissue:
exercise intolerance (patient a)
muscle weakness, lower limbs (patient a)
hypotonia (patient b)

Clinical features from OMIM:

616539

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 26

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 26

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 26

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 26:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 26 30 TRMT5

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 26

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 26:

42
Skeletal Muscle, Brain

Publications for Combined Oxidative Phosphorylation Deficiency 26

Variations for Combined Oxidative Phosphorylation Deficiency 26

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 26:

76
# Symbol AA change Variation ID SNP ID
1 TRMT5 p.Arg291His VAR_075655
2 TRMT5 p.Met386Val VAR_075656

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMT5 NM_020810.3(TRMT5): c.312_315del (p.Ile105Serfs) deletion Pathogenic rs755184077 GRCh37 Chromosome 14, 61446301: 61446304
2 TRMT5 NM_020810.3(TRMT5): c.312_315del (p.Ile105Serfs) deletion Pathogenic rs755184077 GRCh38 Chromosome 14, 60979583: 60979586
3 TRMT5 NM_020810.3(TRMT5): c.872G> A (p.Arg291His) single nucleotide variant Pathogenic rs746738473 GRCh38 Chromosome 14, 60976047: 60976047
4 TRMT5 NM_020810.3(TRMT5): c.872G> A (p.Arg291His) single nucleotide variant Pathogenic rs746738473 GRCh37 Chromosome 14, 61442765: 61442765
5 TRMT5 NM_020810.3(TRMT5): c.1156A> G (p.Met386Val) single nucleotide variant Pathogenic rs1057517685 GRCh38 Chromosome 14, 60975763: 60975763
6 TRMT5 NM_020810.3(TRMT5): c.1156A> G (p.Met386Val) single nucleotide variant Pathogenic rs1057517685 GRCh37 Chromosome 14, 61442481: 61442481

Expression for Combined Oxidative Phosphorylation Deficiency 26

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 26.

Pathways for Combined Oxidative Phosphorylation Deficiency 26

GO Terms for Combined Oxidative Phosphorylation Deficiency 26

Sources for Combined Oxidative Phosphorylation Deficiency 26

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
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35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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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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