COXPD34
MCID: CMB084
MIFTS: 23

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 57 75 29 6
Coxpd34 57 75
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 59
Combined Oxidative Phosphorylation Deficiency, Type 34 40
Syndromic Sensorineural Hearing Loss Due to Coxpd 59
Syndromic Sensorineural Deafness Due to Coxpd 59

Characteristics:

Orphanet epidemiological data:

59
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
combined oxidative phosphorylation deficiency 34:
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 34

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 34:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 hypoglycemia 32 HP:0001943
3 hepatic steatosis 32 HP:0001397
4 lactic acidosis 32 HP:0003128
5 primary adrenal insufficiency 32 HP:0008207
6 hypogonadism 32 HP:0000135
7 hepatic failure 32 HP:0001399

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

26
# 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 29 MRPS7

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 34

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

41
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 34

Variations for Combined Oxidative Phosphorylation Deficiency 34

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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