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PGAP3 gene related symptoms and diseases

All the information presented here about the PGAP3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PGAP3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Wide nasal bridge Very Common - Between 80% and 100% cases
Inability to walk Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Tented upper lip vermilion Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PGAP3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Elevated alkaline phosphatase
  • Thin upper lip vermilion
  • Upslanted palpebral fissure
  • Shortening of all distal phalanges of the fingers
  • Broad nasal tip
  • Short nose
  • Absent speech
  • Cleft palate

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PGAP3 gene

Here you will find a list of rare diseases related to the PGAP3. 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 4; HPMRS4

Alternate names

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10, gpibd10

Description

Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). 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 4; HPMRS4

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


More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

SOURCES: OMIM


Potential gene panels for PGAP3 gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Hyperphosphatasia with mental retardation syndrome type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PGAP3 gene.

More info about this panel
Germany.

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