Multiple congenital anomalies-hypotonia-seizures syndrome

Common Name(s)

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by {3:Maydan et al., 2011}). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 ({610293}). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome MCAHS2 ({300868}) is caused by mutation in the PIGA gene ({311770}) on chromosome Xp22, and MCAHS3 ({615398}) is caused by mutation in the PIGT gene ({610272}) on chromosome 20q13.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple congenital anomalies-hypotonia-seizures syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Multiple congenital anomalies-hypotonia-seizures syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
 

Author(s): Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin BaraƱano, Ada Hamosh

Journal: Am. J. Med. Genet. A. 2016 Jan;170A(1):77-86.

 

Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole ...

Last Updated: 15 Jan 2016

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A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
 

Author(s): Morad Khayat, Joseph Mark Tilghman, Ilana Chervinsky, Lucia Zalman, Aravinda Chakravarti, Stavit A Shalev

Journal: Am. J. Med. Genet. A. 2016 Jan;170A(1):176-82.

 

Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies-Hypotonia-Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital ...

Last Updated: 15 Jan 2016

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Reviews from the PubMed Database

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The terms "Multiple congenital anomalies-hypotonia-seizures syndrome" returned 0 free, full-text review articles on human participants.

 
 
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