COXPD26
MCID: CMB065
MIFTS: 22

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 75 29 6
Coxpd26 57 59 75
Oxidative Phosphorylation Deficiency, Combined, Type 26 40
Combined Oxidative Phosphorylation Defect Type 26 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
combined oxidative phosphorylation deficiency 26:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 26

UniProtKB/Swiss-Prot : 75 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 brain atrophy and spasticity

Description from OMIM: 616539

Related Diseases for Combined Oxidative Phosphorylation Deficiency 26

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 26

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 26:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 HP:0012444
2 spasticity 32 HP:0001257
3 muscle weakness 32 HP:0001324
4 hyperreflexia 32 HP:0001347
5 failure to thrive 32 HP:0001508
6 global developmental delay 32 HP:0001263
7 malabsorption 32 HP:0002024
8 cirrhosis 32 HP:0001394
9 babinski sign 32 HP:0003487
10 increased serum lactate 32 HP:0002151
11 narrow mouth 32 HP:0000160
12 hyporeflexia 32 HP:0001265
13 triangular face 32 HP:0000325
14 blue sclerae 32 HP:0000592
15 generalized hypotonia 32 HP:0001290
16 exercise intolerance 32 HP:0003546
17 exertional dyspnea 32 HP:0002875
18 poor speech 32 HP:0002465
19 delayed myelination 32 HP:0012448
20 abnormal activity of mitochondrial respiratory chain 32 obligate (100%) HP:0011922

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:

41
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:

75
# 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_315delAATA (p.Ile105Serfs) deletion Pathogenic rs755184077 GRCh37 Chromosome 14, 61446301: 61446304
2 TRMT5 NM_020810.3(TRMT5): c.312_315delAATA (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 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
Content
Loading form....