PGAP1 gene related symptoms and diseases

All the information presented here about the PGAP1 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.

Top 5 symptoms and clinical features associated to PGAP1 gene

Symptoms // Phenotype % Cases
Global developmental delay Common - Between 50% and 80% cases
Agenesis of corpus callosum Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal hand morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PGAP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Paraplegia
  • Retinal dystrophy
  • Highly arched eyebrow
  • Brain atrophy
  • Delayed myelination
  • Cerebellar vermis hypoplasia
  • Cerebral visual impairment
  • Abnormal electroretinogram

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PGAP1 gene

Here you will find a list of rare diseases related to the PGAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42


Alternate names

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 Is also known as glycosylphosphatidylinositol biosynthesis defect 9, gpibd9

Description

Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

SOURCES: OMIM

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Description

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

SOURCES: ORPHANET

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY


Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid


More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET


Potential gene panels for PGAP1 gene

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental retardation, autosomal recessive type 42 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PGAP1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

PGAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PGAP1 gene.

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel


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