FRAS1 gene related symptoms and diseases

All the information presented here about the FRAS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FRAS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Vaginal atresia Common - Between 50% and 80% cases
Encephalocele Common - Between 50% and 80% cases
Dental crowding Common - Between 50% and 80% cases
Atresia of the external auditory canal Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with FRAS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Anophthalmia
  • Anal stenosis
  • Myelomeningocele
  • Calvarial skull defect
  • Bicornuate uterus
  • Subglottic stenosis
  • Ambiguous genitalia
  • Laryngeal stenosis

And 92 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FRAS1 gene

Here you will find a list of rare diseases related to the FRAS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FRASER SYNDROME

Alternate names

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Description

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

Most common symptoms of FRASER SYNDROME

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


More info about FRASER SYNDROME

SOURCES: ORPHANET

FRASER SYNDROME 1; FRASRS1

Alternate names

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations, fraser syndrome, cryptophthalmos-syndactyly syndrome

Description

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

Most common symptoms of FRASER SYNDROME 1; FRASRS1

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


More info about FRASER SYNDROME 1; FRASRS1

SOURCES: OMIM

RENAL AGENESIS, UNILATERAL

Description

Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.


More info about RENAL AGENESIS, UNILATERAL

SOURCES: ORPHANET


Potential gene panels for FRAS1 gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel
United States.

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel
United States.

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6

More info about this panel
United States.

FRAS1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FRAS1 gene.

More info about this panel
Spain.

FRAS1-Related Fraser syndrome Panel

Portugal.

By CGC Genetics

This panel specifically test the FRAS1 gene.

More info about this panel
Portugal.

Fraser syndrome (sequence analysis of FRAS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FRAS1 gene.

More info about this panel
Portugal.

Fraser Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fraser Syndrome Sequencing Panel with CNV Detection that also includes the following genes: GRIP1 FRAS1 FREM1 FREM2

More info about this panel
United States.

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel
United States.

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel
United States.

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel
United States.

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel
United States.

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

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.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel
Germany.

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel
Germany.

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel
Germany.

FRAS1 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the FRAS1 gene.

More info about this panel
Netherlands.

Fraser syndrome panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Fraser syndrome panel that also includes the following genes: GRIP1 FRAS1 FREM1 FREM2

More info about this panel
Netherlands.

Fraser syndrome, FRAS1 (NGS sequencing) Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FRAS1 gene.

More info about this panel
Germany.

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel

Germany.

By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A

More info about this panel
Germany.

Single gene testing FRAS1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FRAS1 gene.

More info about this panel
Germany.

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
Estonia.

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel
Spain.

Fraser, Síndrome de Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Fraser, Síndrome de that also includes the following genes: GRIP1 FRAS1 FREM2

More info about this panel
Spain.

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel
United States.

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel
United States.

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel
United States.

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel
United States.

FRAS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FRAS1 gene.

More info about this panel
United States.

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel
Finland.

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel
Finland.

Fraser syndrome Panel

Spain.

By Bioarray

This panel specifically test the FRAS1 gene.

More info about this panel
Spain.

FRASER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL FRASER SYNDROME that also includes the following genes: GRIP1 FRAS1 FREM2

More info about this panel
Spain.

FRASER SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FRASER SYNDROME NGS PANEL that also includes the following genes: GRIP1 FRAS1 FREM2

More info about this panel
Spain.

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A

More info about this panel
Spain.

Fraser Syndrome, Sequencing FRAS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FRAS1 gene.

More info about this panel
Spain.

Fraser Syndrome, Panel Massive Sequencing (NGS) FRAS1,FREM2,GRIP1 Genes Panel

Spain.

By Reference Laboratory Genetics Fraser Syndrome, Panel Massive Sequencing (NGS) FRAS1,FREM2,GRIP1 Genes that also includes the following genes: GRIP1 FRAS1 FREM2

More info about this panel
Spain.

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