COXPD26
MCID: CMB065
MIFTS: 24

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 57 12 72 29 6
Coxpd26 57 12 58 72
Combined Oxidative Phosphorylation Defect Type 26 58 17
Oxidative Phosphorylation Deficiency, Combined, Type 26 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 26:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 26

UniProtKB/Swiss-Prot : 72 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 spasticity

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1.

More information from OMIM: 616539 PS609060

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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 abnormal activity of mitochondrial respiratory chain 31 obligate (100%) HP:0011922
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 failure to thrive 31 HP:0001508
5 muscle weakness 31 HP:0001324
6 global developmental delay 31 HP:0001263
7 malabsorption 31 HP:0002024
8 cirrhosis 31 HP:0001394
9 narrow mouth 31 HP:0000160
10 increased serum lactate 31 HP:0002151
11 hyporeflexia 31 HP:0001265
12 blue sclerae 31 HP:0000592
13 triangular face 31 HP:0000325
14 babinski sign 31 HP:0003487
15 generalized hypotonia 31 HP:0001290
16 exertional dyspnea 31 HP:0002875
17 brain atrophy 31 HP:0012444
18 poor speech 31 HP:0002465
19 delayed myelination 31 HP:0012448
20 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 TRMT5

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 26

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

40
Skeletal Muscle, Brain

Publications for Combined Oxidative Phosphorylation Deficiency 26

Articles related to Combined Oxidative Phosphorylation Deficiency 26:

# Title Authors PMID Year
1
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. 6 57
26189817 2015
2
Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. 6 57
2544623 1989

Variations for Combined Oxidative Phosphorylation Deficiency 26

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRMT5 NM_020810.3(TRMT5):c.1156A>G (p.Met386Val) SNV Pathogenic 372248 rs1057517685 GRCh37: 14:61442481-61442481
GRCh38: 14:60975763-60975763
2 TRMT5 NM_020810.3(TRMT5):c.872G>A (p.Arg291His) SNV Pathogenic 372247 rs746738473 GRCh37: 14:61442765-61442765
GRCh38: 14:60976047-60976047
3 TRMT5 NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) Deletion Pathogenic 372246 rs755184077 GRCh37: 14:61446301-61446304
GRCh38: 14:60979583-60979586
4 TRMT5 NM_020810.3(TRMT5):c.11+103del Deletion Pathogenic 1032858 GRCh37: 14:61447578-61447578
GRCh38: 14:60980860-60980860
5 TRMT5 NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu) SNV Uncertain significance 1032859 GRCh37: 14:61446445-61446445
GRCh38: 14:60979727-60979727
6 TRMT5 NM_020810.3(TRMT5):c.-2G>A SNV Uncertain significance 1032860 GRCh37: 14:61447693-61447693
GRCh38: 14:60980975-60980975
7 TRMT5 NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala) SNV Uncertain significance 692098 rs2296928 GRCh37: 14:61442756-61442756
GRCh38: 14:60976038-60976038
8 TRMT5 NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met) SNV Uncertain significance 692099 rs114570574 GRCh37: 14:61441876-61441876
GRCh38: 14:60975158-60975158
9 TRMT5 NM_020810.3(TRMT5):c.1218G>C (p.Gln406His) SNV Uncertain significance 692100 GRCh37: 14:61442419-61442419
GRCh38: 14:60975701-60975701

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

72
# Symbol AA change Variation ID SNP ID
1 TRMT5 p.Arg291His VAR_075655 rs746738473
2 TRMT5 p.Met386Val VAR_075656 rs105751768

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....