Disease #01062 (MCAHS2;GPIBD4 (multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4))), OMIM:300868)

Official abbreviation MCAHS2;GPIBD4
Name multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4))
OMIM ID 300868
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 14
Phenotype entries for this disease 13
Associated with 1 gene PIGA
Associated tissues -
Disease features X-linked recessive
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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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. - - - - - 0 - - 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. PIGA PIGA 1 1 Philippe Campeau
00028956 - PubMed: Kato et al 2014 6-old-year patient. M - Japan - - 0 - - MCAHS2;GPIBD4 The boy presented early infantile epileptic encephalopathy. He also had severe disability, myoclonus, and quadriplegia. PIGA PIGA 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 - - 0 - - 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. PIGA PIGA 1 1 Philippe Campeau
00028960 - PubMed: Kato et al 2014 Two brothers with early infantile epileptic encephalopathy. M - Japan - - 0 - - MCAHS2;GPIBD4 Siblings showing early myoclonic encephalopathy, PIGA PIGA 1 1 Philippe Campeau
00028961 - PubMed: Kato et al 2014 Boy with MCAHS2. M - Japan - - 0 - - MCAHS2;GPIBD4 Patient with early infantile epileptic encephalopathy. PIGA PIGA 1 1 Philippe Campeau
00028962 - PubMed: Kato et al 2014 15-month-old boy with MCAHS2 M - Japan - - 0 - - MCAHS2;GPIBD4 Patient with early infantile epileptic encephalopathy. PIGA PIGA 1 1 Philippe Campeau
00028963 - PubMed: Swoboda et al 2014 Four generation family with three affected males and three female carriers. M - - - - 0 - - 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. PIGA PIGA 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 - 0 - - 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. PIGA PIGA 1 1 Philippe Campeau
00092257 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - - United States - - 0 - - MCAHS2;GPIBD4 profound IDD, dysmorphisms, infantile spasms, contractures, brain intramyelin edema, mixed hearing loss,liver dysfunction; lipoprotein lipase deficiency / mitochondrial complex I and IV deficiency / elevated alkaline phosphatase; Maple Syrup Disease-like features on brain MRI PIGA - 0 1 Johan den Dunnen
00172472 09307258-Pat PubMed: Claes 1997 - M no Belgium white - 0 - - MCAHS2;GPIBD4 profound mental retardation, infantile spasm, profound retardation, axial hypotonia, epileptic seizures, hypsarrhythmia - PIGA 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 0 - - 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) PIGA PIGA 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 - 0 - - MCAHS2;GPIBD4 Hypotonia after birth, repeated seizures (epilepsy), ID. PIGA PIGA 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 0 - - MCAHS2;GPIBD4 Hypotonia, epilepsy, ID PIGA PIGA 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 - - 0 - - MCAHS2;GPIBD4 Global developmental delay; seizures; central hypotonia; brain atrophy PIGA PIGA 1 1 Philippe Campeau
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