All individuals with variants in gene NFS1

7 entries on 1 page. Showing entries 1 - 7.
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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 2 1 Andreas Laner
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 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 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 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 1 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 1 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) 1 1 Johan den Dunnen
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