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  1. Mendelian
  2. Rare Disease 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 ).

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.

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