PORCN gene related symptoms and diseases
All the information presented here about the PORCN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PORCN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Ectrodactyly | Very Common - Between 80% and 100% cases |
| Vertebral fusion | Very Common - Between 80% and 100% cases |
| Narrow nasal bridge | Very Common - Between 80% and 100% cases |
| Aplasia/Hypoplasia of the skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PORCN gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of digit
- Telangiectasia of the skin
- Anteriorly placed anus
- Hypoplastic nipples
- Aplasia cutis congenita
- Facial cleft
- Oligodactyly
- Macule
And 179 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PORCN gene
Here you will find a list of rare diseases related to the PORCN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FOCAL DERMAL HYPOPLASIA
Alternate names
FOCAL DERMAL HYPOPLASIA Is also known as dhof, goltz syndrome, goltz-gorlin syndrome, fodh
Description
Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
Most common symptoms of FOCAL DERMAL HYPOPLASIA
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about FOCAL DERMAL HYPOPLASIA
Search interest in PORCN
Potential gene panels for PORCN gene
PORCN Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PORCN gene.
More info about this panel United States.
PORCN Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PORCN gene.
More info about this panel United States.
PORCN Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PORCN gene.
More info about this panel United States.
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked Intellectual Disabilities Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
Anterior segment defects Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2
More info about this panel Denmark.
PORCN Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PORCN gene.
More info about this panel Germany.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
PORCN gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the PORCN gene.
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
PORCN mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the PORCN gene.
More info about this panel Netherlands.
PORCN. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PORCN gene.
More info about this panel Spain.
Focal dermal hypoplasia (sequence analysis of PORCN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PORCN gene.
More info about this panel Portugal.
Mental retardation, X-linked (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel Portugal.
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PORCN gene.
More info about this panel United States.
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Focal dermal hypoplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PORCN gene.
More info about this panel Germany.
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 Germany.
Goltz Gorlin Syndrome Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the PORCN gene.
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Goltz syndrome: PORCN gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PORCN gene.
More info about this panel Spain.
Focal Dermal Hypoplasia: PORCN Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PORCN gene.
More info about this panel United States.
Focal Dermal Hypoplasia: PORCN Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PORCN gene.
More info about this panel United States.
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
PORCN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PORCN gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Ectodermal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
More info about this panel Finland.
X-linked Intellectual Disability Panel Panel
Finland.
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel Finland.
Ectopia Lentis Panel Panel
Finland.
By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR
More info about this panel Finland.
Focal dermal hypoplasia Panel
Spain.
By Bioarray
This panel specifically test the PORCN gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PORCN gene.
More info about this panel Spain.
Goltz Syndrome, Sequencing PORCN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PORCN gene.
More info about this panel Spain.
Focal Dermal Hypoplasia: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PORCN gene.
More info about this panel Canada.
Focal Dermal Hypoplasia: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PORCN gene.
More info about this panel Canada.
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