1. Mendelian
  2. Genes
  3. PIGY

PIGY gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to PIGY gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Shortening of all distal phalanges of the fingers Very Common - Between 80% and 100% cases
Thickened helices Very Common - Between 80% and 100% cases
Long palpebral fissure Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Elevated alkaline phosphatase
  • Growth delay
  • Microcephaly
  • Global developmental delay
  • Generalized hypotonia

  • Not very common - Between 30% and 50% cases

  • Vomiting
  • Osteopenia
  • Polyhydramnios

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PIGY gene

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


HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Alternate names

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2, gpibd2

Description

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased 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 HPMRS and MCAHS (see, e.g., {614080}), 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 under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

Most common symptoms of HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: OMIM ORPHANET

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Alternate names

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12, glycosylphosphatidylinositol biosynthesis defect 12

Description

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Most common symptoms of HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

SOURCES: OMIM


Potential gene panels for PIGY gene

Syndromic Intellectual Disability via PIGY Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PIGY gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DUT RHCE HIKESHI MLYCD CCDC88C ANIB1 WNK1