COXPD28
MCID: CMB072
MIFTS: 23

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 56 12 73 29 6
Coxpd28 56 12 58 73
Neonatal Severe Cardiopulmonary Failure Due to Mitochondrial Methylation Defect 12 58
Combined Oxidative Phosphorylation Defect Type 28 58

Characteristics:

OMIM:

56
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 56 616794
OMIM Phenotypic Series 56 PS609060
MeSH 43 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA466784

Summaries for Combined Oxidative Phosphorylation Deficiency 28

OMIM : 56 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 generalized hypotonia and increased serum pyruvate

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 : 73 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 generalized hypotonia 31 occasional (7.5%) HP:0001290
2 increased serum pyruvate 31 occasional (7.5%) HP:0003542
3 muscle weakness 31 HP:0001324
4 global developmental delay 31 HP:0001263
5 polyhydramnios 31 HP:0001561
6 fatigue 31 HP:0012378
7 abdominal pain 31 HP:0002027
8 congestive heart failure 31 HP:0001635
9 increased serum lactate 31 HP:0002151
10 ragged-red muscle fibers 31 HP:0003200
11 respiratory failure 31 HP:0002878
12 decreased fetal movement 31 HP:0001558
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:

56
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

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. 56 6
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 GRCh37 Pos GRCh38 Pos
1 SLC25A26 NM_173471.3(SLC25A26):c.443T>G (p.Val148Gly)SNV Pathogenic 222006 rs869025313 3:66313793-66313793 3:66263369-66263369
2 SLC25A26 NM_173471.3(SLC25A26):c.305C>T (p.Ala102Val)SNV Pathogenic 222007 rs869025314 3:66312479-66312479 3:66262055-66262055
3 SLC25A26 NM_173471.3(SLC25A26):c.596C>T (p.Pro199Leu)SNV Pathogenic 222008 rs869025315 3:66419929-66419929 3:66369505-66369505
4 SLC25A26 NM_173471.3(SLC25A26):c.33+1G>ASNV Pathogenic 222009 rs781798317 3:66271554-66271554 3:66221128-66221128

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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