PIGA-CDG is an extremely rare genetic disorder impacting children from birth. The symptoms of PIGA-CDG are wide-ranging in both scope and severity. Not all children with PIGA-CDG may exhibit all symptoms and some children will exhibit additional symptoms.

PIGG-CDG, also known as PIGG deficiency, is a rare inherited condition that predominantly affects the nervous system. Almost 30 cases of PIGG-CDG have been reported in the literature to date. PIGG-CDG is classified as a disorder of GPI anchor biosynthesis. PIGG-CDG is caused when an individual has a mutation in both copies of their PIGG gene.

PIGA-CDG.org was created to help parents, caregivers and medical professionals learn more about this rare genetic mutation, and as a place to share different experiences and challenges when dealing with this disorder.

随着基因检测技术的发展，目前国内外已有近20个 PIG / PGAP 基因相继被发现可致GPI生物合成缺陷 (glycosylphosphatidylinositol biosynthesis defects，GPIBD)，其与儿童多种疾病相关，尤其是神经系统疾病，包括多发先天性畸形－张力减退－癫痫综合征 (multiple congenital anomalies－hypotonia－seizures syndrome，MCAHS)、高磷酸酶并精神发育迟滞 (hyperphosphatasia with mental retardation syndrome，HPMRS)、CHIME …

2017年6月1日 · PigI, PigG and PigA have been shown to be involved in the first steps of MBC biosynthesis (proline incorporation). The crystal structure of PigG was resolved to elucidate its function and mechanism. PigG, an acyl carrier protein (ACP), features the ACP architecture:, a helical bundle fold containing three major helices and a minor distorted ...

2021年6月10日 · We demonstrated enzymatic activity defects for PIGG variants in vitro in a PIGG/PIGO double knockout system. Phenotypic analysis of reported individuals reveals shared PIGG...

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition ...

PIGA-CDG is an extremely rare genetic disorder impacting children from birth. It is also referred to as PIGA deficiency or Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2). What does the PIGA gene do in the body?

该基因编码合成 N-乙酰葡糖胺磷脂酰肌醇 (GlcNAc-PI) 所需的蛋白质，GlcNAc-PI 是 GPI 锚生物合成途径中的第一个中间体。 GPI 锚是一种在许多血细胞上发现的糖脂，用于将蛋白质锚定到细胞表面。 阵发性睡眠性血红蛋白尿症是一种获得性血液病，已被证明是由该基因突变引起的。 交替剪接变体已被表征。 一个相关的假基因位于 12 号染色体上。 [RefSeq 提供，2010 年 6 月]

The symptoms of PIGA-CDG are wide-ranging in both scope and severity, so not all PIGA-CDG children may have all of these symptoms. Seizures (e.g., infantile spasms, myoclonic) Significant developmental delays in motor and verbal skills; Respiratory complications; Muscle tone abnormalities (hypotonia, hypertonia, dystonia)