COXPD34
MCID: CMB084
MIFTS: 24

Combined Oxidative Phosphorylation Deficiency 34 (COXPD34)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 34

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 34:

Name: Combined Oxidative Phosphorylation Deficiency 34 58 76 30 6
Coxpd34 58 76
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 60
Combined Oxidative Phosphorylation Deficiency, Type 34 41
Syndromic Sensorineural Hearing Loss Due to Coxpd 60
Syndromic Sensorineural Deafness Due to Coxpd 60

Characteristics:

Orphanet epidemiological data:

60
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two sisters have been reported (last curated february 2018)
patient a had a more severe disorder resulting in death in the teenage years


HPO:

33
combined oxidative phosphorylation deficiency 34:
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 34

OMIM : 58 COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617872)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 34, is also known as coxpd34. An important gene associated with Combined Oxidative Phosphorylation Deficiency 34 is MRPS7 (Mitochondrial Ribosomal Protein S7). Affiliated tissues include liver, and related phenotypes are hepatomegaly and hypoglycemia

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 34: An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 34

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 34

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 34:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 HP:0002240
2 hypoglycemia 33 HP:0001943
3 hepatic steatosis 33 HP:0001397
4 lactic acidosis 33 HP:0003128
5 primary adrenal insufficiency 33 HP:0008207
6 hypogonadism 33 HP:0000135
7 hepatic failure 33 HP:0001399

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Metabolic Features:
hypoglycemia
lactic acidosis

Laboratory Abnormalities:
decreased atp production
decreased activities of mitochondrial complexes i, iii, and iv, variable in different tissues
mitochondrial fragmentation

Abdomen Liver:
hepatomegaly (patient a)
liver failure (patient a)
steatosis (patient a)
mild fibrosis (patient a)

Endocrine Features:
hypogonadism (patient b)
primary adrenal insufficiency (patient b)

Abdomen Gastrointestinal:
vomiting

Genitourinary Kidneys:
renal dysfunction
atrophy of renal tubules
dilated renal tubules
giant and abnormal mitochondria

Head And Neck Ears:
deafness, sensorineural, congenital, profound

Neurologic Central Nervous System:
learning disability, mild (patient b)

Hematology:
pancytopenia (patient a)

Clinical features from OMIM:

617872

GenomeRNAi Phenotypes related to Combined Oxidative Phosphorylation Deficiency 34 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 MIF4GD MRPS7

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 34

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 34

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 34

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 34:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 34 30 MRPS7

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 34

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 34:

42
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 34

Articles related to Combined Oxidative Phosphorylation Deficiency 34:

# Title Authors Year
1
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. ( 25556185 )
2015
2
Mitochondrial electron transport chain defect presenting as hypoglycemia. ( 9063420 )
1997

Variations for Combined Oxidative Phosphorylation Deficiency 34

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 34:

76
# Symbol AA change Variation ID SNP ID
1 MRPS7 p.Met184Val VAR_080411 rs115047866

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS7 NM_015971.3(MRPS7): c.550A> G (p.Met184Val) single nucleotide variant Likely pathogenic rs115047866 GRCh37 Chromosome 17, 73261825: 73261825
2 MRPS7 NM_015971.3(MRPS7): c.550A> G (p.Met184Val) single nucleotide variant Likely pathogenic rs115047866 GRCh38 Chromosome 17, 75265744: 75265744

Expression for Combined Oxidative Phosphorylation Deficiency 34

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 34.

Pathways for Combined Oxidative Phosphorylation Deficiency 34

GO Terms for Combined Oxidative Phosphorylation Deficiency 34

Molecular functions related to Combined Oxidative Phosphorylation Deficiency 34 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.62 MIF4GD MRPS7

Sources for Combined Oxidative Phosphorylation Deficiency 34

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
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