COXPD28
MCID: CMB072
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 28 (COXPD28)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 28

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 28:

Name: Combined Oxidative Phosphorylation Deficiency 28 57 75 6
Coxpd28 57 59 75
Neonatal Severe Cardiopulmonary Failure Due to Mitochondrial Methylation Defect 59
Combined Oxidative Phosphorylation Defect Type 28 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset in early infancy
three unrelated patients have been reported (last curated february 2016)


HPO:

32
combined oxidative phosphorylation deficiency 28:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 28

OMIM : 57 Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (616794)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 28, is also known as coxpd28. An important gene associated with Combined Oxidative Phosphorylation Deficiency 28 is SLC25A26 (Solute Carrier Family 25 Member 26). Affiliated tissues include heart and skeletal muscle, and related phenotypes are muscle weakness and global developmental delay

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 28: An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 28

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 28

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
hypotonia (in some patients)
cox-deficient fibers
ragged red fibers seen on skeletal muscle biopsy
variable decreases in mitochondrial respiratory complex enzyme activities
more
Metabolic Features:
lactic acidosis

Cardiovascular Vascular:
pulmonary hypertension, episodic (in some patients)

Neurologic:
delayed development, variable

Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate (in some patients)
increased serum glycine (in some patients)
decreased synthesis of coenzyme q10

Cardiovascular Heart:
cardiac insufficiency
cardiopulmonary arrest, episodic

Respiratory:
respiratory failure, episodic


Clinical features from OMIM:

616794

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 28:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 global developmental delay 32 HP:0001263
3 fatigue 32 HP:0012378
4 abdominal pain 32 HP:0002027
5 congestive heart failure 32 HP:0001635
6 increased serum lactate 32 HP:0002151
7 ragged-red muscle fibers 32 HP:0003200
8 respiratory failure 32 HP:0002878
9 polyhydramnios 32 HP:0001561
10 decreased fetal movement 32 HP:0001558
11 generalized hypotonia 32 occasional (7.5%) HP:0001290
12 increased serum pyruvate 32 occasional (7.5%) HP:0003542
13 poor appetite 32 HP:0004396
14 decreased activity of mitochondrial complex i 32 HP:0011923
15 severe lactic acidosis 32 HP:0004900
16 decreased activity of mitochondrial complex iv 32 HP:0008347

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 28

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 28

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 28

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 28

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 28:

41
Heart, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 28

Variations for Combined Oxidative Phosphorylation Deficiency 28

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 28:

75
# Symbol AA change Variation ID SNP ID
1 SLC25A26 p.Ala102Val VAR_076305 rs869025314
2 SLC25A26 p.Val148Gly VAR_076306 rs869025313
3 SLC25A26 p.Pro199Leu VAR_076307 rs869025315

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A26 NM_173471.3(SLC25A26): c.443T> G (p.Val148Gly) single nucleotide variant Pathogenic rs869025313 GRCh38 Chromosome 3, 66263369: 66263369
2 SLC25A26 NM_173471.3(SLC25A26): c.443T> G (p.Val148Gly) single nucleotide variant Pathogenic rs869025313 GRCh37 Chromosome 3, 66313793: 66313793
3 SLC25A26 NM_173471.3(SLC25A26): c.305C> T (p.Ala102Val) single nucleotide variant Pathogenic rs869025314 GRCh38 Chromosome 3, 66262055: 66262055
4 SLC25A26 NM_173471.3(SLC25A26): c.305C> T (p.Ala102Val) single nucleotide variant Pathogenic rs869025314 GRCh37 Chromosome 3, 66312479: 66312479
5 SLC25A26 NM_173471.3(SLC25A26): c.596C> T (p.Pro199Leu) single nucleotide variant Pathogenic rs869025315 GRCh38 Chromosome 3, 66369505: 66369505
6 SLC25A26 NM_173471.3(SLC25A26): c.596C> T (p.Pro199Leu) single nucleotide variant Pathogenic rs869025315 GRCh37 Chromosome 3, 66419929: 66419929
7 SLC25A26 NM_173471.3(SLC25A26): c.33+1G> A single nucleotide variant Pathogenic rs781798317 GRCh38 Chromosome 3, 66221128: 66221128
8 SLC25A26 NM_173471.3(SLC25A26): c.33+1G> A single nucleotide variant Pathogenic rs781798317 GRCh37 Chromosome 3, 66271554: 66271554

Expression for Combined Oxidative Phosphorylation Deficiency 28

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 28.

Pathways for Combined Oxidative Phosphorylation Deficiency 28

GO Terms for Combined Oxidative Phosphorylation Deficiency 28

Sources for Combined Oxidative Phosphorylation Deficiency 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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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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