COXPD32
MCID: CMB078
MIFTS: 19

Combined Oxidative Phosphorylation Deficiency 32 (COXPD32)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 32

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 32:

Name: Combined Oxidative Phosphorylation Deficiency 32 58 76 6
Coxpd32 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
combined oxidative phosphorylation deficiency 32:
Onset and clinical course progressive


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 32

OMIM : 58 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)

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 brain and eye, and related phenotypes are ptosis and nystagmus

UniProtKB/Swiss-Prot : 76 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:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 spasticity 33 HP:0001257
4 constipation 33 HP:0002019
5 developmental regression 33 HP:0002376
6 global developmental delay 33 HP:0001263
7 optic atrophy 33 HP:0000648
8 gastroesophageal reflux 33 HP:0002020
9 feeding difficulties 33 HP:0011968
10 absent speech 33 HP:0001344
11 dystonia 33 HP:0001332
12 inability to walk 33 HP:0002540
13 increased serum lactate 33 HP:0002151
14 choreoathetosis 33 HP:0001266
15 generalized hypotonia 33 HP:0001290
16 exotropia 33 HP:0000577
17 increased csf lactate 33 HP:0002490

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
strabismus
exotropia
dysconjugate eye movements
more
Neurologic Peripheral Nervous System:
hyperreflexia

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

Skeletal Spine:
kyphoscoliosis

Skeletal:
joint contractures

Respiratory:
abnormal breathing pattern (in some patients)

Neurologic Central Nervous System:
spasticity
developmental regression
dystonia
inability to walk
delayed psychomotor development
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
poor feeding

Metabolic Features:
lactic acidosis

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

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

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 32

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

42
Brain, Eye

Publications for Combined Oxidative Phosphorylation Deficiency 32

Variations for Combined Oxidative Phosphorylation Deficiency 32

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

76
# Symbol AA change Variation ID SNP ID
1 MRPS34 p.Glu13Lys VAR_080218 rs113169203

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS34 NM_023936.1(MRPS34): c.37G> A (p.Glu13Lys) single nucleotide variant Likely pathogenic rs1131692037 GRCh37 Chromosome 16, 1823084: 1823084
2 MRPS34 NM_023936.1(MRPS34): c.37G> A (p.Glu13Lys) single nucleotide variant Likely pathogenic rs1131692037 GRCh38 Chromosome 16, 1773083: 1773083
3 MRPS34 NM_023936.1(MRPS34): c.321+1G> T single nucleotide variant Pathogenic rs1161932777 GRCh37 Chromosome 16, 1822799: 1822799
4 MRPS34 NM_023936.1(MRPS34): c.321+1G> T single nucleotide variant Pathogenic rs1161932777 GRCh38 Chromosome 16, 1772798: 1772798
5 MRPS34 NM_023936.1(MRPS34): c.322-10G> A single nucleotide variant Pathogenic rs563189672 GRCh38 Chromosome 16, 1772656: 1772656
6 MRPS34 NM_023936.1(MRPS34): c.322-10G> A single nucleotide variant Pathogenic rs563189672 GRCh37 Chromosome 16, 1822657: 1822657
7 MRPS34 NM_023936.1(MRPS34): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic/Likely pathogenic rs763672163 GRCh37 Chromosome 16, 1823027: 1823027
8 MRPS34 NM_023936.1(MRPS34): c.94C> T (p.Gln32Ter) single nucleotide variant Pathogenic/Likely pathogenic rs763672163 GRCh38 Chromosome 16, 1773026: 1773026

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

Sources for Combined Oxidative Phosphorylation Deficiency 32

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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