FREM2 gene related symptoms and diseases
All the information presented here about the FREM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FREM2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pulmonary hypoplasia | Uncommon - Between 30% and 50% cases |
| Anal atresia | Uncommon - Between 30% and 50% cases |
| Cryptophthalmos | Uncommon - Between 30% and 50% cases |
| Underdeveloped nasal alae | Uncommon - Between 30% and 50% cases |
| Ambiguous genitalia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FREM2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Renal hypoplasia
Rarely - Less than 30% cases
- Intellectual disability
- Laryngeal stenosis
- Subglottic stenosis
- Abnormal vagina morphology
- Vaginal atresia
- Bicornuate uterus
- Abnormal hair pattern
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FREM2 gene
Here you will find a list of rare diseases related to the FREM2. 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 2; FRASRS2
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).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.
Most common symptoms of FRASER SYNDROME 2; FRASRS2
- Hydrocephalus
- Syndactyly
- Narrow mouth
- Anal atresia
- Pulmonary hypoplasia
More info about FRASER SYNDROME 2; FRASRS2
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
COMPLETE CRYPTOPHTHALMIA
Search interest in FREM2
Potential gene panels for FREM2 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.
FREM. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FREM2 gene.
More info about this panel Spain.
FREM2-Related Fraser Syndrome Panel
Portugal.
By CGC Genetics
This panel specifically test the FREM2 gene.
More info about this panel Portugal.
Fraser syndrome (sequence analysis of FREM2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FREM2 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.
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.
FREM2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FREM2 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 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FREM2 gene.
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.
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.
FREM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FREM2 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Renal Malformation Panel Panel
Finland.
By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2
More info about this panel Finland.
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.
Fraser syndrome Panel
Spain.
By Bioarray
This panel specifically test the FREM2 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 FREM2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FREM2 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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