PIGW gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PIGW gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Tented upper lip vermilion Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PIGW gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Elevated alkaline phosphatase
  • Absent speech
  • Generalized hypotonia
  • Wide nasal bridge
  • Not very common - Between 30% and 50% cases

  • Broad nasal tip
  • Tapered finger
  • Highly arched eyebrow
  • Short distal phalanx of finger

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PIGW gene

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


HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY


Alternate names

HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg, congenital disorder of glycosylation due to pigm deficiency, glycosylphosphatidylinositol biosynthesis defect 1, gpibd1

Description

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

Most common symptoms of HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly


More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

SOURCES: OMIM ORPHANET

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

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11


Alternate names

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 Is also known as hyperphosphatasia with mental retardation syndrome 5, hpmrs5

Description

GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Most common symptoms of GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

SOURCES: OMIM


Potential gene panels for PIGW gene

PIGW Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIGW gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EFNB1 IL17RA LPIN1 TDO2 BTLA ROBO3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more