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 12 72 29 6
Coxpd34 57 12 72
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 12 58
Syndromic Sensorineural Hearing Loss Due to Coxpd 12 58
Syndromic Sensorineural Deafness Due to Coxpd 12 58
Combined Oxidative Phosphorylation Deficiency, Type 34 39

Characteristics:

Orphanet epidemiological data:

58
syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
combined oxidative phosphorylation deficiency 34:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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) (Updated 20-May-2021)

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 failure to thrive and hepatomegaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has material basis in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hepatomegaly 31 HP:0002240
3 vomiting 31 HP:0002013
4 hypoglycemia 31 HP:0001943
5 hepatic steatosis 31 HP:0001397
6 hepatic failure 31 HP:0001399
7 primary adrenal insufficiency 31 HP:0008207
8 lactic acidosis 31 HP:0003128
9 hypogonadism 31 HP:0000135
10 pancytopenia 31 HP:0001876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Liver

Publications for Combined Oxidative Phosphorylation Deficiency 34

Articles related to Combined Oxidative Phosphorylation Deficiency 34:

# Title Authors PMID Year
1
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. 57 6
25556185 2015
2
Mitochondrial electron transport chain defect presenting as hypoglycemia. 6 57
9063420 1997

Variations for Combined Oxidative Phosphorylation Deficiency 34

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 34:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS7 NM_015971.4(MRPS7):c.550A>G (p.Met184Val) SNV Conflicting interpretations of pathogenicity 489402 rs115047866 GRCh37: 17:73261825-73261825
GRCh38: 17:75265744-75265744
2 MRPS7 NM_015971.4(MRPS7):c.508-1G>A SNV Uncertain significance 1029419 GRCh37: 17:73261782-73261782
GRCh38: 17:75265701-75265701

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

72
# Symbol AA change Variation ID SNP ID
1 MRPS7 p.Met184Val VAR_080411 rs115047866

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

Sources for Combined Oxidative Phosphorylation Deficiency 34

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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