All individuals with variants in gene PIGA

41 entries on 1 page. Showing entries 1 - 41.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 9 1 Yu Sun
00028953 - PubMed: Nafa et al 1998 Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. M - - - - - - - PNH1 - 5 1 Philippe Campeau
00028955 - PubMed: Johnston et al 2012 Four generation family with two female carriers and three affected males with multiple congenital anomalies-hypotonia-seizures syndrome-2. - - - - - - - - MCAHS2;GPIBD4 Three males with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations, and other anomalies. 1 1 Philippe Campeau
00028956 - PubMed: Kato et al 2014 6-old-year patient. M - Japan - - - - - MCAHS2;GPIBD4 The boy presented early infantile epileptic encephalopathy. He also had severe disability, myoclonus, and quadriplegia. 1 1 Philippe Campeau
00028957 - PubMed: Claes et al 1997, PubMed: Belet et al 2014 Four-generation family with three female carriers and five affected males with multiple congenital anomalies-hypotonia-seizures syndrome 2. - - Belgium - - - - - MCAHS2;GPIBD4 The patients had profound retardation, axial hypotonia, epileptic seizures, and hypsarrhythmia. None of them suffered from any signs of PNH. The hypomorph protein, in this patients, prevents the lethality but not the MCAHS-2 like phenotype. 1 1 Philippe Campeau
00028960 - PubMed: Kato et al 2014 Two brothers with early infantile epileptic encephalopathy. M - Japan - - - - - MCAHS2;GPIBD4 Siblings showing early myoclonic encephalopathy, 1 1 Philippe Campeau
00028961 - PubMed: Kato et al 2014 Boy with MCAHS2. M - Japan - - - - - MCAHS2;GPIBD4 Patient with early infantile epileptic encephalopathy. 1 1 Philippe Campeau
00028962 - PubMed: Kato et al 2014 15-month-old boy with MCAHS2 M - Japan - - - - - MCAHS2;GPIBD4 Patient with early infantile epileptic encephalopathy. 1 1 Philippe Campeau
00028963 - PubMed: Swoboda et al 2014 Four generation family with three affected males and three female carriers. M - - - - - - - MCAHS2;GPIBD4 The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities and evidence of systemic iron overload. 1 1 Philippe Campeau
00028964 - PubMed: van der Crabben et al 2014 Three generation family with one male affected and two female carriers. M - - white - - - - MCAHS2;GPIBD4 He had febrile seizures at 8.5 months. He had development delay. Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth and deepened plantar creases. He presented several types of seizures. Atrial septal defect type 2 was seen. Elevated alkaline phosphatase level was noted. 1 1 Philippe Campeau
00102077 P7 - - M no China - >06y - - - ID HP:0001250; intellectual disability (HP:0001249) 1 1 Wenjuan Qiu
00154968 - - - M - (Germany) - - - - - ? HP:0001249 (Intellectual disability) 1 1 IMGAG
00154979 - PubMed: Kim 2016 - M no - - - - - - EEOC - 1 1 Philippe Campeau
00155005 - PubMed: Tarailo-Graovac 2015 - M no - Chinese - - - - MGORS3 - 1 1 Philippe Campeau
00155009 IIHG-112-1 PubMed: Joshi 2016 - M no - - - - - - EEOC - 1 2 Philippe Campeau
00155010 IIHG-112-5 PubMed: Joshi 2016 - M no - - - - - - EEOC - 1 1 Philippe Campeau
00172471 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172472 09307258-Pat PubMed: Claes 1997 - M no Belgium white - - - - MCAHS2;GPIBD4 profound mental retardation, infantile spasm, profound retardation, axial hypotonia, epileptic seizures, hypsarrhythmia 1 1 Guy Froyen
00207383 IV:4 PubMed: Yang et al., 2018 WES performed on two trios (the proband's family and his affected maternal cousin's family) from a nonconsanguineous Chinese family pedigree with hypotonia‐encephalopathy‐seizures disease history and putative X‐linked recessive inheritance. IV:4 is the second son of healthy parent. M no China Chinese 00y02m - - - MCAHS2;GPIBD4 Psychomotor DD, hypotonia, encepalopathy features (including loss of facial expression and eye pursuit), brain abnormalities (including high symmetry flake signal in bilateral pontine tegmental area and testibrachium), no epilepsy, minor dysmorphism (concave nasal bridge, low-set ears) 1 1 Philippe Campeau
00207384 IV:2 PubMed: Yang et al., 2018 Maternal cousin of individual IV:4 from the same paper. M no China Chinese - - - - MCAHS2;GPIBD4 Hypotonia after birth, repeated seizures (epilepsy), ID. 1 1 Philippe Campeau
00207385 III:5 PubMed: Yang et al., 2018 Uncle of individual IV:2 (brother of IV:2's mother). M no China Chinese 01y - - - MCAHS2;GPIBD4 Hypotonia, epilepsy, ID 1 1 Philippe Campeau
00207498 ZY07 PubMed: Lin et al., 2018 First family with PIGA-associated epileptic encephalopathy in Taiwan. Proband is third child of a pair of nonconsanguineous healthy parents. M no Taiwan Taiwanese >00y03m - - Anti-epileptic drugs, levodopa IE Systemic cyanosis and muscular hypotonia. Facial dysmorphism (depressed nasal bridge, large mouth, high-arched palate, micrognathia). Severe global DD, axial hypotonia and dyskinasia. Epileptic spasms and erratic myoclonic seizures. Progressive brain atrophy, delayed myelination, thin corpus callosum. Bilateral hydronephrosis. Elevated ALP level (405 IU/L) 1 1 Philippe Campeau
00207501 Elder twin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy EEOC Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, Status epilepticus, myoclonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 m. Mild dysmorphism (wide-set eyes, depressed nasal bridge, short anteverted nose.) Normal ALP level. Normal brain MRI. No microcephaly, bone deformity or joint contracture. 1 1 Philippe Campeau
00207513 YoungerTwin PubMed: Xie et al., 2018 Monozygotic twins M no China Chinese >00y14m - - Antiepileptic medications, ketogenic diet therapy EEOC Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Normal ALP levels. Mild dysmorphism with wide-set eyes, depressed nasal bridge, and short anteverted nose. No status epilepticus, myoclonic seizures. No microcephaly, bone deformity or joint contracture. 1 1 Philippe Campeau
00207516 Decipher ID 271747 PubMed: Low et al., 2018 17 year old man (only child) with infantile epilepsy and developmental delay who has a maternally inherited missense mutation in PIGA M no - - >17y - - Anti-epileptic drugs, ketogenic diet, vagal nerve stimulator (VNS) EIEE Epilepsy, focal seizures with hypertonicity which evolved during childhood to include atypical absence seizures, tonic seizures and atonic (drop) attacks. Choreoathetoid movements. Blepharitis. Vision and hearing are normal but speech is absent. Global DD. No congenital malformations such as cleft palate or congenital heart disease. 1 1 Philippe Campeau
00207517 Patient_32 PubMed: Trump et al., 2016 Mutation found in a gene panel M - - - - - - - EIEE Seizures 1 1 Philippe Campeau
00207518 P1 PubMed: Fauth et al., 2016 - M no Bosnia and Herzegovina;Switzerland European 00y00m15d - - Anti-epileptic medications SGBS High anterior hairline, upslanted palpebral fissures, a depressed nasal bridge, short nose with anteverted nares, malar flattening, a long philtrum, a thin vermilion of the lips, down‐turned corners of the mouth, micrognathia, a cleft soft palate, large and uplifted earlobes, an overfolded helix of the left ear, and a short neck. Widely spaced nipples. Severe muscular hypotonia and multiple contractures involving the elbows, wrists, fingers, hips and knees, short limbs, and rocker‐bottom feet. Small cerebellum, white‐matter immaturity, prominent sulci, and small optic nerves. Tonic seizures with ocular deviation. Hepatosplenomegaly and developed sepsis from necrotizing enterocolitis. Echochardiography showed a persistent foramen ovale and mild pulmonary hypertension. ALP level not recorded. 1 1 Philippe Campeau
00207519 P2 PubMed: Fauth et al., 2016 - M no Austria;Dominican Republic - 00y03m - - - SGBS2 Severe muscular hypotonia, contractures of the knees, elbows, and fingers, and lack of spontaneous movements. Dysmorphic with a high anterior hairline, bitemporal narrowing, a prominent metopic ridge with a midline naevus simplex, widely spaced eyes, a depressed nasal bridge, a short nose with anteverted nares, a prominent, fleshy philtrum, a wide mouth with thick vermilion of the lips, gingival overgrowth, a narrow V‐shaped palate without clefting, micrognathia with a vertical median chin crease, overfolded ear helices, a short webbed neck, widely spaced nipples, short distal phalanges of hands and feet with small nails, and a single transverse palmar crease of the right hand. Bilateral inguinal hernias, a small penis, and an atrial septal defect, type II with a left‐right shunt. Elevated ALP level. 1 1 Philippe Campeau
00207520 P3 PubMed: Fauth et al., 2016 older brother of patient 2. Stillborn at 32+2w. M no Austria;Dominican Republic - - - - - SGBS2 Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable. 1 1 Philippe Campeau
00207522 28771251-Pat27 PubMed: Lionel et al., 2018 Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS M ? Canada - - - - - MCAHS2;GPIBD4 Global developmental delay; seizures; central hypotonia; brain atrophy 1 1 Philippe Campeau
00294971 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 66 Mohammed Faruq
00305273 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 44 Mohammed Faruq
00314858 Trio1 PubMed: Zhu 2015 - M - Israel - - - - - ? Profound intellectual disability, Angelman features, early epileptic encephalopathy. 1 1 Johan den Dunnen
00325398 Pat11 PubMed: Hong 2020 - M - Taiwan - - - - - ? 3d-onset seizures; apnea, cyanosis, absence seizures, atonic seizures, spasms; severe global developmental delay 1 1 Johan den Dunnen
00427809 Pat193 PubMed: Zhou 2018 - M - China - - - - - epilepsy intellectual disability; febrile seizures, complex partial seizure, frequency 1-2/wk; EEG focal spike wave; MRI brain normal; resistant to antiepileptic drugs 1 1 Johan den Dunnen
00447936 Pat4 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - EIEE see paper; ..., hypotonia, global developmental delay, cerebral palsy, dysphagia; seizure types generalized tonic; EEG Slow background, multifocal and generalized spike wave discharges; MRI brain delayed myelination 1 1 Johan den Dunnen
00448417 288290 - - M no Germany - - - - - MCAHS2;GPIBD4 Generalized myoclonic-atonic seizure, EEG abnormality 1 1 Andreas Laner
00448512 286520 - - M no Germany - - - - - NEDEPH Delayed gross motor development, Neurodevelopmental delay, Abnormal visual fixation, Focal-onset seizure, Febrile status epilepticus, Esodeviation, Large for gestational age, EEG abnormality, Hypomethioninemia 1 1 Andreas Laner
00464295 R087 - - F no China Chinese - - - - ID Hypotonia, severe pneumonia, epilepsy. 1 1 Xiaomei Luo
00467290 CMH301 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
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