Phenotypes for disease #05316 (COXPD (combined oxidative phosphorylation deficiency))

14 entries on 1 page. Showing entries 1 - 14.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000092372 see paper; ... - - Unknown - - - - Johan den Dunnen 00117123
0000143835 see paper; ... combined OXPHOS deficiency - Familial, autosomal recessive - - - - Johan den Dunnen 00183079
0000302461 see paper; ... combined oxidative phosphorylation deficiency COXPD23 Familial, autosomal recessive - - - - Johan den Dunnen 00410357
0000302462 see paper; ... combined oxidative phosphorylation deficiency COXPD23 Familial, autosomal recessive - - - - Johan den Dunnen 00410358
0000302463 see paper; ... combined oxidative phosphorylation deficiency COXPD23 Familial, autosomal recessive - - - - Johan den Dunnen 00410359
0000302464 see paper; ..., hypertrophic cardiomyopathy, hyperlactatemia hypertrophic cardiomyopathy, hyperlactatemia COXPD23 Familial, autosomal recessive 05y - - - Johan den Dunnen 00410360
0000326605 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 combined oxidative phosphorylation deficiency COXPD52 Unknown 00y01m - - - Andreas Laner 00436426
0000326671 see paper; ..., born 34w cesarean section intrauterine growth retardation (weight 1670g, OFC 28.5cm), craniofacial dysmorphism, developmental delay - COXPD47 Familial, autosomal recessive - - - - Johan den Dunnen 00436493
0000326677 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 infantile mitochondrial complex II/III deficiency COXPD52 Familial, autosomal recessive 00y07m - - - Johan den Dunnen 00436499
0000326678 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 infantile mitochondrial complex II/III deficiency COXPD52 Familial, autosomal recessive 00y07m - - - Johan den Dunnen 00436500
0000326679 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 infantile mitochondrial complex II/III deficiency COXPD52 Familial, autosomal recessive 12y - - - Johan den Dunnen 00436501
0000326680 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 mitochondrial disorder COXPD52 Familial, autosomal recessive 00y00m43d 00y00m40d - - Johan den Dunnen 00436502
0000326681 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 mitochondrial disorder COXPD52 Familial, autosomal recessive 00y07m 00y07m - - Johan den Dunnen 00436503
0000326682 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) mitochondrial disorder COXPD52 Familial, autosomal recessive 6y 1m - - Johan den Dunnen 00436504
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