Disease #05316 (COXPD (combined oxidative phosphorylation deficiency))

Official abbreviation COXPD
Name combined oxidative phosphorylation deficiency
OMIM ID -
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 6 genes GTPBP3, NFS1, NSUN3, PTCD3, SMCR7, TRIT1
Associated tissues -
Disease features -
Remarks -
Date created 2017-08-11 14:15:49 +02:00 (CEST)
Date last edited N/A


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00117123 25058219-Pat29 PubMed: Taylor 2014 family, 2 affecteds M - United Kingdom (Great Britain) - 10y - - - COXPD see paper; ... VARS2 VARS2 2 2 Johan den Dunnen
00183079 23814038-Fam PubMed: Lim 2013, Journal: Lim 2013 4-generation family, 2 affected (F, M), unaffected heterozygous carrier relatives F;M yes Lebanon;Syria - - - - - COXPD see paper; ... LYRM4 LYRM4 1 1 Johan den Dunnen
00410357 Pat1 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - China - - - - - COXPD see paper; ... - GTPBP3 2 1 Johan den Dunnen
00410358 Pat2 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ... - GTPBP3 2 1 Johan den Dunnen
00410359 Pat3 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ... - GTPBP3 2 1 Johan den Dunnen
00410360 patient PubMed: Wang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ..., hypertrophic cardiomyopathy, hyperlactatemia - GTPBP3 2 1 Johan den Dunnen
00436426 270871 - - M no Germany - - - - - COXPD Intrauterine growth retardation, Lactic acidosis, Decreased circulating cortisol level, Recurrent hypoglycemia, Aplasia/Hypoplasia of the cerebellum, Abnormal septum pellucidum morphology, Cavum septum pellucidum, Thin corpus callosum, CNS hypomyelination NFS1 NFS1 2 1 Andreas Laner
00436493 Pat1 PubMed: Pulman 2019 2-generation family, 1 affected (deceased older sister), unaffected heterozygous parents M - France - - - - - COXPD see paper; ..., born 34w cesarean section intrauterine growth retardation (weight 1670g, OFC 28.5cm), craniofacial dysmorphism, developmental delay - MRPS28, STMN2 4 1 Johan den Dunnen
00436499 FamPatIV1 PubMed: Farhan 2014 4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives F yes Canada Old Order Mennonite 00y07m - - - COXPD see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; hemorrhagic pancreatitis; no cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; increased amylase; increased creatine kinase; increased plasma amino acid concentration (most amino acids); urine organic acids; no amino aciduria; metabolic acidosis - NFS1 1 3 Johan den Dunnen
00436500 FamPatIV2 PubMed: Farhan 2014 brother M yes Canada - 00y07m - - - COXPD see paper; ..., 7m-deceased, no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; respiratory failure; cardiac failure; no hemorrhagic pancreatitis; 15w-cerebral infarction; renal failure; disseminated intravascular coagulation; seizures; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); hypoglycemia; increased lactate; increased aspartate aminotransferase; normal amylase; increased creatine kinase; increased plasma amino acid concentration; normal urine organic acids; amino aciduria; metabolic acidosis - NFS1 1 1 Johan den Dunnen
00436501 FamPatIV3 PubMed: Farhan 2014 brother M yes Canada - - - - - COXPD see paper; ..., no facial dysmorphology; no limb dysmorphology; lethargy, anorexia, hypotonia; no respiratory failure; no cardiac failure; no hemorrhagic pancreatitis; no cerebral infarction; no renal failure; no mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); no hypoglycemia; increased lactate; increased aspartate aminotransferase; increased creatine kinase; increased plasma amino acid concentration (small increase Alanine; urine organic acids; amino aciduria; metabolic acidosis - NFS1 1 1 Johan den Dunnen
00436502 FamPatII2 PubMed: Hershkovitsz 2021 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives M yes Israel Arab;Christian 00y00m43d - - - COXPD see paper; ..., 43d-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; hypertrophic cardiomyopathy; adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (lactate, 3-hydroxyisovaleric, ketones, 3-methyllgutaconic, 3-methyllgutaric acids); amino aciduria - NDUFAF5, NFS1 2 3 Johan den Dunnen
00436503 FamPatII4 PubMed: Hershkovitsz 2021 sister F yes Israel Arab;Christian 7m - - - COXPD see paper; ..., 7m-deceased; lethargy, hypotonia; respiratory failure; no seizures; cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; disseminated intravascular coagulation; hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Alanine, Glycine; elevated urine organic acids (ethylmalonic, krebs cycle metabolites); amino aciduria - NDUFAF5, NFS1 2 1 Johan den Dunnen
00436504 FamPatII5 PubMed: Hershkovitsz 2021 brother M yes Israel Arab;Christian - - - - COXPD see paper; ..., lethargy, hypotonia; no respiratory failure; no cerebral infraction; no seizures; no cardiac failure; no hypertrophic cardiomyopathy; no adrenal insufficiency; no hemorrhagic pancreatitis; no renal failure; no disseminated intravascular coagulation; no hypoglycemia; elevated serum lactate; elevated serum aspartate aminotransferase; normal serum amylase; elevated serum creatine kinase; elevated plasma Glycine; elevated urine organic acids (lactate, ethylmalonic, ketones, 3-methyllgutaconic) - NDUFAF5, NFS1 2 1 Johan den Dunnen
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