MCID: CMB085
MIFTS: 11

Combined Oxidative Phosphorylation Deficiency 35

Categories: Genetic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 35

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 35:

Name: Combined Oxidative Phosphorylation Deficiency 35 57 75 6
Coxpd35 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


Classifications:



External Ids:

OMIM 57 617873
MedGen 42 CN807948
MeSH 44 D028361

Summaries for Combined Oxidative Phosphorylation Deficiency 35

OMIM : 57 COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617873)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 35, is also known as coxpd35. An important gene associated with Combined Oxidative Phosphorylation Deficiency 35 is TRIT1 (TRNA Isopentenyltransferase 1).

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 35: An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 35

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 35

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Eyes:
optic disc hypoplasia (1 patient)
poor tracking
esotropia
myopia

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
decreased activities of mitochondrial respiratory complexes i, iii, and iv, variable in different tissues

Head And Neck Head:
microcephaly

Cardiovascular Heart:
cardia septal defects (in some patients)

Neurologic Central Nervous System:
global developmental delay
intellectual disability, moderate to severe
poor or absent speech
seizures
myoclonic seizures
more

Clinical features from OMIM:

617873

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 35

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 35

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 35

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 35

Publications for Combined Oxidative Phosphorylation Deficiency 35

Variations for Combined Oxidative Phosphorylation Deficiency 35

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 35:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIT1 NM_017646.5(TRIT1): c.1256A> C (p.His419Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs566435653 GRCh37 Chromosome 1, 40307564: 40307564
2 TRIT1 NM_017646.5(TRIT1): c.1256A> C (p.His419Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs566435653 GRCh38 Chromosome 1, 39841892: 39841892
3 TRIT1 NM_017646.5(TRIT1): c.1204C> T (p.Arg402Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs367752391 GRCh37 Chromosome 1, 40309803: 40309803
4 TRIT1 NM_017646.5(TRIT1): c.1204C> T (p.Arg402Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs367752391 GRCh38 Chromosome 1, 39844131: 39844131
5 TRIT1 NM_017646.5(TRIT1): c.856A> G (p.Lys286Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1060505019 GRCh37 Chromosome 1, 40313292: 40313292
6 TRIT1 NM_017646.5(TRIT1): c.856A> G (p.Lys286Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1060505019 GRCh38 Chromosome 1, 39847620: 39847620
7 TRIT1 NM_017646.5(TRIT1): c.848T> G (p.Ile283Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199622789 GRCh37 Chromosome 1, 40313300: 40313300
8 TRIT1 NM_017646.5(TRIT1): c.848T> G (p.Ile283Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199622789 GRCh38 Chromosome 1, 39847628: 39847628
9 TRIT1 NM_017646.5(TRIT1): c.22C> T (p.Arg8Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs184469579 GRCh37 Chromosome 1, 40349142: 40349142
10 TRIT1 NM_017646.5(TRIT1): c.22C> T (p.Arg8Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs184469579 GRCh38 Chromosome 1, 39883470: 39883470
11 TRIT1 NM_017646.5(TRIT1): c.968G> A (p.Arg323Gln) single nucleotide variant Uncertain significance rs1047420796 GRCh37 Chromosome 1, 40312930: 40312930
12 TRIT1 NM_017646.5(TRIT1): c.968G> A (p.Arg323Gln) single nucleotide variant Uncertain significance rs1047420796 GRCh38 Chromosome 1, 39847258: 39847258

Expression for Combined Oxidative Phosphorylation Deficiency 35

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 35.

Pathways for Combined Oxidative Phosphorylation Deficiency 35

GO Terms for Combined Oxidative Phosphorylation Deficiency 35

Sources for Combined Oxidative Phosphorylation Deficiency 35

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