PIGN gene related symptoms and diseases

All the information presented here about the PIGN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to PIGN gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Wide mouth	Very Common - Between 80% and 100% cases
Seizures	Very Common - Between 80% and 100% cases
Long philtrum	Very Common - Between 80% and 100% cases
Hernia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PIGN gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Gastroesophageal reflux
Coarse facial features
Hydronephrosis
Cleft lip
Abnormal cardiac septum morphology
Short neck
Anal atresia
Pulmonary hypoplasia

And 191 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PIGN gene

Here you will find a list of rare diseases related to the PIGN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Alternate names

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency, glycosylphosphatidylinositol biosynthesis defect 3, pign-cdg, gpibd3

Description

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 Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

Most common symptoms of MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hypertelorism

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

SOURCES: OMIM ORPHANET

FRYNS SYNDROME

Alternate names

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Description

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

Most common symptoms of FRYNS SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about FRYNS SYNDROME

SOURCES: MESH OMIM ORPHANET

Search interest in PIGN

Potential gene panels for PIGN gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

PIGN gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PIGN gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to PIGN gene

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Alternate names

Description

Most common symptoms of MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

FRYNS SYNDROME

Alternate names

Description

Most common symptoms of FRYNS SYNDROME

Search interest in PIGN

Potential gene panels for PIGN gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

Macrocephaly (NGS panel for 16 genes) Panel

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (sequence analysis of PIGN gene) Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

AllNeuro panel Panel

Multiple congenital anomalies-hypotonia-seizures syndrome 1 Panel

Macrocephaly Panel Panel

Macrocephaly Panel Panel

Invitae Epilepsy Panel Panel

Invitae Early Infantile Epileptic Encephalopathy Panel Panel

PIGN Panel

Comprehensive Epilepsy Panel Panel

Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel