COXPD32
MCID: CMB078
MIFTS: 25

Combined Oxidative Phosphorylation Deficiency 32 (COXPD32)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 32

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 32:

Name: Combined Oxidative Phosphorylation Deficiency 32 57 12 72 29 6 15
Coxpd32 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
may result in early death
onset in first days or months of life


HPO:

31
combined oxidative phosphorylation deficiency 32:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 32

OMIM® : 57 Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (256000). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617664) (Updated 20-May-2021)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 32, is also known as coxpd32. An important gene associated with Combined Oxidative Phosphorylation Deficiency 32 is MRPS34 (Mitochondrial Ribosomal Protein S34). Affiliated tissues include eye, and related phenotypes are coarse facial features and microcephaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has material basis in homozygous or compound heterozygous mutation in MRPS34 on chromosome 16p13.3.

UniProtKB/Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 32: An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 32

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 32

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 32:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 very rare (1%) HP:0000280
2 microcephaly 31 very rare (1%) HP:0000252
3 spasticity 31 HP:0001257
4 hyperreflexia 31 HP:0001347
5 ptosis 31 HP:0000508
6 nystagmus 31 HP:0000639
7 constipation 31 HP:0002019
8 developmental regression 31 HP:0002376
9 global developmental delay 31 HP:0001263
10 optic atrophy 31 HP:0000648
11 flexion contracture 31 HP:0001371
12 gastroesophageal reflux 31 HP:0002020
13 absent speech 31 HP:0001344
14 kyphoscoliosis 31 HP:0002751
15 increased serum lactate 31 HP:0002151
16 dystonia 31 HP:0001332
17 increased csf lactate 31 HP:0002490
18 lactic acidosis 31 HP:0003128
19 feeding difficulties 31 HP:0011968
20 choreoathetosis 31 HP:0001266
21 generalized hypotonia 31 HP:0001290
22 inability to walk 31 HP:0002540
23 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
developmental regression
dystonia
inability to walk
delayed psychomotor development
more
Head And Neck Eyes:
ptosis
nystagmus
strabismus
exotropia
dysconjugate eye movements
more
Skeletal Spine:
kyphoscoliosis

Metabolic Features:
lactic acidosis

Skeletal:
joint contractures

Respiratory:
abnormal breathing pattern (in some patients)

Neurologic Peripheral Nervous System:
hyperreflexia

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
combined oxidative phosphorylation deficiency

Muscle Soft Tissue:
hypotonia
decreased activities of mitochondrial respiratory complexes i, iii, and iv

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
coarse facial features (in some patients)

Clinical features from OMIM®:

617664 (Updated 20-May-2021)

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 32

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 32

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 32

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 32:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 32 29 MRPS34

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 32

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 32:

40
Eye

Publications for Combined Oxidative Phosphorylation Deficiency 32

Articles related to Combined Oxidative Phosphorylation Deficiency 32:

# Title Authors PMID Year
1
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. 57 6
28777931 2017

Variations for Combined Oxidative Phosphorylation Deficiency 32

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 32:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS34 NM_023936.2(MRPS34):c.322-10G>A SNV Pathogenic 438633 rs563189672 GRCh37: 16:1822657-1822657
GRCh38: 16:1772656-1772656
2 MRPS34 NM_023936.1(MRPS34):c.321+1G>T SNV Pathogenic 430586 rs1161932777 GRCh37: 16:1822799-1822799
GRCh38: 16:1772798-1772798
3 EME2 , MRPS34 NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) SNV Pathogenic/Likely pathogenic 438635 rs763672163 GRCh37: 16:1823027-1823027
GRCh38: 16:1773026-1773026
4 EME2 , MRPS34 NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) SNV Likely pathogenic 430585 rs1131692037 GRCh37: 16:1823084-1823084
GRCh38: 16:1773083-1773083

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 32:

72
# Symbol AA change Variation ID SNP ID
1 MRPS34 p.Glu13Lys VAR_080218 rs113169203

Expression for Combined Oxidative Phosphorylation Deficiency 32

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 32.

Pathways for Combined Oxidative Phosphorylation Deficiency 32

GO Terms for Combined Oxidative Phosphorylation Deficiency 32

Cellular components related to Combined Oxidative Phosphorylation Deficiency 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 VPS13C MRPS34 CLN8 CHCHD2 CAPRIN2

Biological processes related to Combined Oxidative Phosphorylation Deficiency 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 8.62 VPS13C CHCHD2

Sources for Combined Oxidative Phosphorylation Deficiency 32

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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