COXPD35
MCID: CMB085
MIFTS: 21

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 56 12 73 29 6
Coxpd35 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

31
combined oxidative phosphorylation deficiency 35:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 35

OMIM : 56 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 optic disc hypoplasia and intellectual disability

Disease Ontology : 12 A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has material basis in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2.

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 35:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 optic disc hypoplasia 31 very rare (1%) HP:0007766
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 eeg abnormality 31 HP:0002353
6 failure to thrive 31 HP:0001508
7 spasticity 31 HP:0001257
8 absent speech 31 HP:0001344
9 myopia 31 HP:0000545
10 dystonia 31 HP:0001332
11 encephalopathy 31 HP:0001298
12 cerebral atrophy 31 HP:0002059
13 generalized hypotonia 31 HP:0001290
14 esotropia 31 HP:0000565
15 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
spasticity
dystonia
encephalopathy
more
Growth Other:
failure to thrive

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

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

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

Articles related to Combined Oxidative Phosphorylation Deficiency 35:

# Title Authors PMID Year
1
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. 6 56
28185376 2017
2
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. 56 6
24901367 2014

Variations for Combined Oxidative Phosphorylation Deficiency 35

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 35:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIT1 NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)SNV Likely pathogenic 417684 rs184469579 1:40349142-40349142 1:39883470-39883470
2 TRIT1 NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)SNV Conflicting interpretations of pathogenicity 492943 rs1047420796 1:40312930-40312930 1:39847258-39847258
3 TRIT1 NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)SNV Uncertain significance 417680 rs566435653 1:40307564-40307564 1:39841892-39841892
4 TRIT1 NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)SNV Uncertain significance 417682 rs367752391 1:40309803-40309803 1:39844131-39844131
5 TRIT1 NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)SNV Uncertain significance 417683 rs1060505019 1:40313292-40313292 1:39847620-39847620
6 TRIT1 NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)SNV Uncertain significance 417681 rs199622789 1:40313300-40313300 1:39847628-39847628

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

73
# Symbol AA change Variation ID SNP ID
1 TRIT1 p.Arg323Gln VAR_080748 rs104742079

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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