COXPD28
MCID: CMB072
MIFTS: 23

Combined Oxidative Phosphorylation Deficiency 28 (COXPD28)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Respiratory 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 12 72 29 6
Coxpd28 57 12 58 72
Neonatal Severe Cardiopulmonary Failure Due to Mitochondrial Methylation Defect 12 58
Combined Oxidative Phosphorylation Defect Type 28 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
combined oxidative phosphorylation deficiency 28:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111470
OMIM® 57 616794
OMIM Phenotypic Series 57 PS609060
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA466784

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) (Updated 05-Apr-2021)

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 increased serum pyruvate and generalized hypotonia

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1.

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 28:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 increased serum pyruvate 31 occasional (7.5%) HP:0003542
2 generalized hypotonia 31 occasional (7.5%) HP:0001290
3 muscle weakness 31 HP:0001324
4 global developmental delay 31 HP:0001263
5 fatigue 31 HP:0012378
6 congestive heart failure 31 HP:0001635
7 ragged-red muscle fibers 31 HP:0003200
8 abdominal pain 31 HP:0002027
9 polyhydramnios 31 HP:0001561
10 increased serum lactate 31 HP:0002151
11 decreased fetal movement 31 HP:0001558
12 respiratory failure 31 HP:0002878
13 decreased activity of mitochondrial complex i 31 HP:0011923
14 poor appetite 31 HP:0004396
15 severe lactic acidosis 31 HP:0004900
16 decreased activity of mitochondrial complex iv 31 HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 28:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 28 29 SLC25A26

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 28

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

40
Heart, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 28

Articles related to Combined Oxidative Phosphorylation Deficiency 28:

# Title Authors PMID Year
1
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. 6 57
26522469 2015

Variations for Combined Oxidative Phosphorylation Deficiency 28

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 28:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A26 NM_173471.3(SLC25A26):c.305C>T (p.Ala102Val) SNV Pathogenic 222007 rs869025314 GRCh37: 3:66312479-66312479
GRCh38: 3:66262055-66262055
2 SLC25A26 NM_173471.3(SLC25A26):c.596C>T (p.Pro199Leu) SNV Pathogenic 222008 rs869025315 GRCh37: 3:66419929-66419929
GRCh38: 3:66369505-66369505
3 SLC25A26 NM_173471.3(SLC25A26):c.443T>G (p.Val148Gly) SNV Pathogenic 222006 rs869025313 GRCh37: 3:66313793-66313793
GRCh38: 3:66263369-66263369
4 SLC25A26 NM_173471.3(SLC25A26):c.33+1G>A SNV Pathogenic 222009 rs781798317 GRCh37: 3:66271554-66271554
GRCh38: 3:66221128-66221128

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

72
# 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

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