COXPD36
MCID: CMB086
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 36 (COXPD36)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 36

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 36:

Name: Combined Oxidative Phosphorylation Deficiency 36 57 12 72 29 6
Coxpd36 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive disorder
two unrelated patients have been reported (last curated april 2018)


HPO:

31
combined oxidative phosphorylation deficiency 36:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset nonprogressive


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 36

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 36: An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 36, is also known as coxpd36. An important gene associated with Combined Oxidative Phosphorylation Deficiency 36 is MRPS2 (Mitochondrial Ribosomal Protein S2). Related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in MRPS2 on chromosome 9q34.3.

More information from OMIM: 617950 PS609060

Related Diseases for Combined Oxidative Phosphorylation Deficiency 36

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 36

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 36:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 global developmental delay 31 HP:0001263
4 sensorineural hearing impairment 31 HP:0000407
5 hypoglycemia 31 HP:0001943
6 generalized hypotonia 31 HP:0001290
7 poor speech 31 HP:0002465
8 aciduria 31 HP:0012072

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
mildly delayed walking

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased lactate
increased alanine
2-oxoglutaric aciduria
increased excretion of krebs cycle intermediates
variably decreased activities of mitochondrial respiratory complexes i, iii, and iv in different tissues

Metabolic Features:
hypoglycemia, episodic

Growth Other:
failure to thrive

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Face:
dysmorphic features, mild (in some patients)

Skin Nails Hair Skin:
wrinkly skin (1 patient)

Clinical features from OMIM®:

617950 (Updated 20-May-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 36

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 36

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 36

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 36:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 36 29 MRPS2

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 36

Publications for Combined Oxidative Phosphorylation Deficiency 36

Articles related to Combined Oxidative Phosphorylation Deficiency 36:

# Title Authors PMID Year
1
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. 57 6
29576219 2018

Variations for Combined Oxidative Phosphorylation Deficiency 36

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 36:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS2 , LOC101928525 NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys) SNV Pathogenic 523223 rs761334309 GRCh37: 9:138395416-138395416
GRCh38: 9:135503570-135503570
2 MRPS2 , LOC101928525 NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn) SNV Pathogenic 523224 rs201229537 GRCh37: 9:138395428-138395428
GRCh38: 9:135503582-135503582
3 MRPS2 , LOC101928525 NM_016034.5(MRPS2):c.413G>A (p.Arg138His) SNV Pathogenic 523225 rs758539748 GRCh37: 9:138395501-138395501
GRCh38: 9:135503655-135503655
4 MRPS2 , LOC101928525 NM_016034.5(MRPS2):c.400C>T (p.His134Tyr) SNV Uncertain significance 1029572 GRCh37: 9:138395488-138395488
GRCh38: 9:135503642-135503642
5 MRPS2 , LOC101928525 NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr) SNV Uncertain significance 1029573 GRCh37: 9:138395950-138395950
GRCh38: 9:135504104-135504104

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 36:

72
# Symbol AA change Variation ID SNP ID
1 MRPS2 p.Arg110Cys VAR_080787 rs761334309
2 MRPS2 p.Asp114Asn VAR_080788 rs201229537
3 MRPS2 p.Arg138His VAR_080789 rs758539748

Expression for Combined Oxidative Phosphorylation Deficiency 36

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 36.

Pathways for Combined Oxidative Phosphorylation Deficiency 36

GO Terms for Combined Oxidative Phosphorylation Deficiency 36

Sources for Combined Oxidative Phosphorylation Deficiency 36

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
Content
Loading form....