COXPD39
MCID: CMB091
MIFTS: 13

Combined Oxidative Phosphorylation Deficiency 39 (COXPD39)

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 39

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 39:

Name: Combined Oxidative Phosphorylation Deficiency 39 58 6
Coxpd39 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
some patients may have normal early development and then show regression


Classifications:



External Ids:

OMIM 58 618397

Summaries for Combined Oxidative Phosphorylation Deficiency 39

OMIM : 58 Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome (256000) on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues (summary by Glasgow et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (618397)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 39, is also known as coxpd39. An important gene associated with Combined Oxidative Phosphorylation Deficiency 39 is GFM2 (G Elongation Factor Mitochondrial 2). Affiliated tissues include brain.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 39

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 39

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dysarthria
developmental regression
dystonia
involuntary movements
more
Head And Neck Face:
myopathic facies

Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia, axial
hypertonia, limbs

Metabolic Features:
hypoglycemia (in some patients) diabetes mellitus (in some patients)

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
decreased mitochondrial respiratory chain activities, variable, in multiple tissues

Head And Neck Mouth:
drooling

Skeletal:
contractures (in some patients)
arthrogryposis multiplex congenita (in some patients)

Growth Other:
intrauterine growth retardation (in some patients)

Clinical features from OMIM:

618397

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 39

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 39

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 39

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 39

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 39:

42
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 39

Articles related to Combined Oxidative Phosphorylation Deficiency 39:

# Title Authors Year
1
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. ( 29075935 )
2017
2
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. ( 26016410 )
2015
3
Exome sequencing can improve diagnosis and alter patient management. ( 22700954 )
2012

Variations for Combined Oxidative Phosphorylation Deficiency 39

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 39:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GFM2 NM_032380.3(GFM2): c.1728T> A (p.Asp576Glu) single nucleotide variant Uncertain significance rs140077535 GRCh37 Chromosome 5, 74021950: 74021950
2 GFM2 NM_032380.3(GFM2): c.1728T> A (p.Asp576Glu) single nucleotide variant Uncertain significance rs140077535 GRCh38 Chromosome 5, 74726125: 74726125
3 GFM2 NM_032380.4(GFM2): c.569G> A (p.Arg190Gln) single nucleotide variant Likely pathogenic rs761283105 GRCh37 Chromosome 5, 74043556: 74043556
4 GFM2 NM_032380.4(GFM2): c.569G> A (p.Arg190Gln) single nucleotide variant Likely pathogenic rs761283105 GRCh38 Chromosome 5, 74747731: 74747731
5 GFM2 NM_032380.4(GFM2): c.206+4A> G single nucleotide variant Pathogenic rs869320703 GRCh37 Chromosome 5, 74055190: 74055190
6 GFM2 NM_032380.4(GFM2): c.206+4A> G single nucleotide variant Pathogenic rs869320703 GRCh38 Chromosome 5, 74759365: 74759365
7 GFM2 NM_032380.4(GFM2): c.2029-1G> A single nucleotide variant Pathogenic rs869320704 GRCh37 Chromosome 5, 74018387: 74018387
8 GFM2 NM_032380.4(GFM2): c.2029-1G> A single nucleotide variant Pathogenic rs869320704 GRCh38 Chromosome 5, 74722562: 74722562
9 GFM2 NM_032380.4(GFM2): c.636delA (p.Glu213Argfs) deletion Pathogenic rs746538436 GRCh37 Chromosome 5, 74041963: 74041963
10 GFM2 NM_032380.4(GFM2): c.636delA (p.Glu213Argfs) deletion Pathogenic rs746538436 GRCh38 Chromosome 5, 74746138: 74746138
11 GFM2 NM_032380.4(GFM2): c.275A> C (p.Tyr92Ser) single nucleotide variant Pathogenic rs1554042187 GRCh37 Chromosome 5, 74054703: 74054703
12 GFM2 NM_032380.4(GFM2): c.275A> C (p.Tyr92Ser) single nucleotide variant Pathogenic rs1554042187 GRCh38 Chromosome 5, 74758878: 74758878

Expression for Combined Oxidative Phosphorylation Deficiency 39

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 39.

Pathways for Combined Oxidative Phosphorylation Deficiency 39

GO Terms for Combined Oxidative Phosphorylation Deficiency 39

Sources for Combined Oxidative Phosphorylation Deficiency 39

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