All individuals with variants in gene ATAD3A

13 entries on 1 page. Showing entries 1 - 13.
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00103889 28327206-PatBH5923_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? delayed motor development, hypotonia 1 1 Johan den Dunnen
00281806 Pat1 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 3d 0 - - ? 3d-deceased; Apgars at birth 3; hypertrophic cardiomyopathy, congenital cataracts, corneal opacity, postnatal hypotonia, cryptorchidism, micropenis, seizures, encephalopathy, fetal akinesia; increased excretion of fumarate, malate, 2-ketoglutarate, 3-methylglutaconate, and 3-methylglutarate 1 1 Johan den Dunnen
00281807 Pat2 PubMed: Gunning 2020, Journal: Wortmann 2020 - F - - - 42d 0 - - ? 6w-deceased; Apgars at birth poor; dilated cardiomyopathy, corneal opacity, postnatal hypotonia, EEG diffuse abnormalities; fetal hydrops, edema; lactic acidosis; MRI-brain white matter changes, simplified gyral patterning, cerebellar atrophy 1 1 Johan den Dunnen
00281808 Pat3 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 5d 0 - - ? 5d-deceased; Apgars at birth 1; dilated cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, encephalopathy, contractures; fetal hydrops; widespread hypoxic brain damage (postmortem) 1 1 Johan den Dunnen
00281809 Pat4 PubMed: Gunning 2020, Journal: Wortmann 2020 - F - - - 42d 0 - - ? 6w-deceased; Apgars at birth 5,8,9; hypertrophic cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia; EEG diffuse abnormalities; diffuse bilateral abnormal subcortical, periventricular, and deep white matter, abnormal MR spectroscopy; lactic acidosis; increased excretion 2OH butyrate, fumarate, and 3OH isobutyrate 1 1 Johan den Dunnen
00281810 Pat5 PubMed: Gunning 2020, Journal: Wortmann 2020 - M - - - 28d 0 - - ? 4w-deceased; Apgars at birth 1,0; hypertrophic cardiomyopathy, cardiomegaly, corneal opacity, postnatal hypotonia, hypospadias, seizures; MRI-brain white matter changes, generalized reduction brain volume); 9d-abnormal MR spectroscopy (lactate peak); contractures; 22d-lactic acidosis, increased excretion of fumarate, malate 1 1 Johan den Dunnen
00281811 FamPatS1a PubMed: Desai 2017, Journal: Desai 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F yes Iran - 5d 0 - - ? 5d-died; polyhydramnios, reduced foetal and no postnatal spontaneous movements, required ventilation, dysmorphic features, severe encephalopathy; MRI-brain cerebellar and brainstem hypoplasia with simplified anterior gyral pattern anteriorly, diffuse white matter signal abnormality, marked ex vacuo ventricular dilatation consistent with global atrophy; plasma lactate elevated up to 6.2 mM, borderline low CI, CIII, CIV in skeletal muscle but normal in skin fibroblasts, decreased steady state levels of a critical CI and CIV subunit in fibroblasts and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors 1 2 Johan den Dunnen
00281812 FamPatS1b PubMed: Desai 2017, Journal: Desai 2017 brother S1b M yes Iran - 00y00m01d 0 - - ? 1d-died; reduced foetal movements, foetus died intrapartum during a lengthy labour; borderline-low CI, CIII, CIV in skeletal muscle and borderline- low CI, CII, CIII in liver 1 1 Johan den Dunnen
00281813 PatS2 PubMed: Desai 2017, Journal: Desai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Netherlands;Turkey - 5d 0 - - ? 5d-died; polyhydramnios and lack of foetal movements. Caesarean section at 33 weeks due to foetal distress, no spontaneous movements, required ventilation, dysmorphic features, severe encephalopathy; MRI-brain cerebellar hypoplasia, abnormalities of cortical gyration and periventricular white matter abnormalities; plasma lactate elevated (2.7 to 4.4 mM), elevated urine 3-methylglutaconate and 3-methylglutatarate. Decreased CI, CIII, CIV in skin fibroblasts but normal in skeletal muscle and liver 1 1 Johan den Dunnen
00281814 PatS3 PubMed: Desai 2017, Journal: Desai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - 2d 0 - - ? 2d-died; polyhydramnios. Caesarean section at 33 weeks due to foetal distress. Required ventilation, dysmorphic features, severe encephalopathy; MRI-brain pontocerebellar hypoplasia, supratentorial white matter and cortical abnormalities, ventricular dilatation, simplified gyral pattern; plasma lactate levels slightly elevated at 2.6 mM 1 1 Johan den Dunnen
00281815 PatS4 PubMed: Desai 2017, Journal: Desai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 7m10d 0 - - ? 7m10d-died; reduced foetal movements, spontaneous delivery, cyanosis, no spontaneous respiration with Apgar score of 6/6, required ventilation throughout his life, progressive cardiac hypertrophy; MRI-brain cerebral, cerebellar and brain stem atrophy, simplified gyral pattern in the frontal lobes, haemorrhage from bilateral lateral ventricles; CSF lactate elevated (3.4 mM). Low oxygen consumption rate in skin fibroblasts but activities of CI, CII, CII+III, CIII and CIV were normal 2 1 Johan den Dunnen
00281816 PatS5 PubMed: Desai 2017, Journal: Desai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - >30y 0 - - ? moderate mental retardation since childhood, dystonia, psychiatric problems, cerebellar ataxia since about 25 years; MRI-brain cerebellar atrophy; normal metabolic investigations, normal histological analysis of muscle biopsy, fibroblasts decreased steady state levels of a critical CI and CIV subunit, and RNASeq results indicative of decreased expression of a broad range of OXPHOS factors 1 1 Johan den Dunnen
00362020 PME_FI_F01 PubMed: Courage 2021, Journal: Courage 2021 - - - - - - 0 - - epilepsy - 1 1 Johan den Dunnen
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