GNPAT gene related symptoms and diseases

All the information presented here about the GNPAT 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.

Top 5 symptoms and clinical features associated to GNPAT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Intellectual disability, severe Very Common - Between 80% and 100% cases
Calcific stippling Very Common - Between 80% and 100% cases
Limb joint contracture Very Common - Between 80% and 100% cases
Irregular vertebral endplates Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Epiphyseal stippling
  • Short humerus
  • Congenital contracture
  • Abnormality of pelvic girdle bone morphology
  • Rhizomelia
  • Large fontanelles
  • Congenital cataract
  • Osteopenia

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNPAT gene

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


RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Alternate names

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency, gnpat deficiency, dihydroxyacetonephosphate acyltransferase deficiency, peroxisomal dihydroxyacetonephosphate acyltransferase deficiency, dhapat deficiency, gly

Description

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Most common symptoms of RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

SOURCES: OMIM MESH ORPHANET


Potential gene panels for GNPAT gene

Rhizomelic Chondrodysplasia Punctata NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Rhizomelic Chondrodysplasia Punctata NGS Panel that also includes the following genes: AGPS GNPAT PEX7

More info about this panel

Peroxisomal Disorders Comprehensive NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Peroxisomal Disorders Comprehensive NGS Panel that also includes the following genes: SCP2 ACOX1 CAT PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

Rhizomelic Chondrodysplasia Punctata Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Rhizomelic Chondrodysplasia Punctata Sequencing Panel that also includes the following genes: AGPS GNPAT PEX7

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Peroxisomal Disorders Sequencing Panel Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS

More info about this panel

Peroxisomal disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4 ABCD1

More info about this panel

Rhizomelic chondrodysplasia punctata type 2 (RCDP2, sequence analysis of GNPAT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNPAT gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Rhizomelic Chondrodysplasia Punctata Type 2 Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the GNPAT gene.

More info about this panel

Rhizomelic Chondrodysplasia Punctata Type 2 Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the GNPAT gene.

More info about this panel

Rhizomelic Chondrodysplasia Punctata Type 2 via GNPAT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GNPAT gene.

More info about this panel

Peroxisomal Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Peroxisomal Disorders Sequencing Panel with CNV Detection that also includes the following genes: ACOX1 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3 PEX1 PEX10

More info about this panel

Chondrodysplasia punctata and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Deletion / Duplication panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders Comprehensive panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

More info about this panel

Chondrodysplasia punctata and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel that also includes the following genes: NSDHL FAR1 EBP AGPS GNPAT LBR MGP ARSE PEX7 PEX5

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

Rhizomelic chondrodysplasia punctata type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GNPAT 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

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Chondrodysplasia punctata Panel Panel

Germany.

By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX7

More info about this panel

Rhizomelic Chondrodysplasia Punctata Type 2 Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the GNPAT gene.

More info about this panel

Rhizomelic chondrodysplasia punctata, type 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GNPAT gene.

More info about this panel

Rhizomelic chondrodysplasia punctata, type 2 Panel

Slovakia.

By MedGene

This panel specifically test the GNPAT gene.

More info about this panel

Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel Panel

United States.

By Invitae Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel that also includes the following genes: AGPS GNPAT PEX7

More info about this panel

Peroxisomal disorders Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 ABHD12 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

GNPAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNPAT gene.

More info about this panel

Chondrodysplasia Punctata Panel Panel

Finland.

By Blueprint Genetics Chondrodysplasia Punctata Panel that also includes the following genes: NSDHL EBP AGPS GNPAT LBR ARSE PEX14 PEX7 PEX19

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Peroxisomal Disorders Panel Panel

Finland.

By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GNPAT gene.

More info about this panel

Rhizomelic Chondrodysplasia Punctata Type 2 , Sequencing GNPAT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GNPAT gene.

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: IMPAD1 EBP AGPS GNPAT LBR ARSE PEX7

More info about this panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

More info about this panel


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