COXPD22
MCID: CMB053
MIFTS: 17

Combined Oxidative Phosphorylation Deficiency 22 (COXPD22)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 22

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 22:

Name: Combined Oxidative Phosphorylation Deficiency 22 58 76 30 6 74
Coxpd22 58 76
Oxidative Phosphorylation Deficiency, Combined, Type 22 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two sisters, born of consanguineous moroccan parents, have been reported (last curated october 2014)
death in the first years of life


HPO:

33
combined oxidative phosphorylation deficiency 22:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 22

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 22: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 22, is also known as coxpd22, and has symptoms including seizures An important gene associated with Combined Oxidative Phosphorylation Deficiency 22 is ATP5F1A (ATP Synthase F1 Subunit Alpha). Affiliated tissues include heart, and related phenotypes are seizures and failure to thrive

Description from OMIM: 616045

Related Diseases for Combined Oxidative Phosphorylation Deficiency 22

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 22

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 22:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 failure to thrive 33 HP:0001508
3 microcephaly 33 HP:0000252
4 pulmonary arterial hypertension 33 HP:0002092
5 congestive heart failure 33 HP:0001635
6 intrauterine growth retardation 33 HP:0001511
7 generalized hypotonia 33 HP:0001290
8 encephalopathy 33 HP:0001298
9 hyperalaninemia 33 HP:0003348

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
encephalopathy

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia
mitochondrial dna depletion
decreased activities of several mitochondrial respiratory enzymes

Laboratory Abnormalities:
increased serum alanine

Growth Other:
failure to thrive
intrauterine growth retardation

Cardiovascular Vascular:
pulmonary hypertension

Cardiovascular Heart:
heart failure

Clinical features from OMIM:

616045

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 22:


seizures

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 22

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 22

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 22

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 22:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 22 30 ATP5F1A

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 22

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 22:

42
Heart

Publications for Combined Oxidative Phosphorylation Deficiency 22

Variations for Combined Oxidative Phosphorylation Deficiency 22

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 22:

76
# Symbol AA change Variation ID SNP ID
1 ATP5F1A p.Tyr321Cys VAR_071982 rs587777788

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 22:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP5F1A NM_004046.5(ATP5F1A): c.962A> G (p.Tyr321Cys) single nucleotide variant Pathogenic rs587777788 GRCh38 Chromosome 18, 46087222: 46087222
2 ATP5F1A NM_004046.5(ATP5F1A): c.962A> G (p.Tyr321Cys) single nucleotide variant Pathogenic rs587777788 GRCh37 Chromosome 18, 43667188: 43667188

Expression for Combined Oxidative Phosphorylation Deficiency 22

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 22.

Pathways for Combined Oxidative Phosphorylation Deficiency 22

GO Terms for Combined Oxidative Phosphorylation Deficiency 22

Sources for Combined Oxidative Phosphorylation Deficiency 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....