COXPD35
MCID: CMB085
MIFTS: 17

Combined Oxidative Phosphorylation Deficiency 35 (COXPD35)

Categories: Genetic diseases, Metabolic 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 29 6
Coxpd35 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

32
combined oxidative phosphorylation deficiency 35:
Onset and clinical course variable expressivity infantile onset


Classifications:



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). Related phenotypes are intellectual disability and spasticity

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
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
dystonia
encephalopathy
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

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

Growth Other:
failure to thrive

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

Cardiovascular Heart:
cardia septal defects (in some patients)


Clinical features from OMIM:

617873

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 35:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 spasticity 32 HP:0001257
3 eeg abnormality 32 HP:0002353
4 global developmental delay 32 HP:0001263
5 generalized myoclonic seizures 32 HP:0002123
6 absent speech 32 HP:0001344
7 myopia 32 HP:0000545
8 dystonia 32 HP:0001332
9 encephalopathy 32 HP:0001298
10 cerebral atrophy 32 HP:0002059
11 esotropia 32 HP:0000565
12 optic disc hypoplasia 32 very rare (1%) HP:0007766

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 35:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 35 29 TRIT1

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 35

Publications for Combined Oxidative Phosphorylation Deficiency 35

Variations for Combined Oxidative Phosphorylation Deficiency 35

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 35:

75
# Symbol AA change Variation ID SNP ID
1 TRIT1 p.Arg323Gln VAR_080748

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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