FREM1 gene related symptoms and diseases

All the information presented here about the FREM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FREM1 gene

Symptoms // Phenotype % Cases
Renal agenesis Uncommon - Between 30% and 50% cases
Anteriorly placed anus Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Anal stenosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FREM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Bifid nose
  • Trigonocephaly
  • Short philtrum
  • Omphalocele
  • Rarely - Less than 30% cases

  • Anophthalmia
  • Eyelid coloboma
  • Abnormal hair pattern
  • Bifid nasal tip

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FREM1 gene

Here you will find a list of rare diseases related to the FREM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BNAR SYNDROME


Alternate names

BNAR SYNDROME Is also known as bifid nose with or without anorectal and renal anomalies

Description

BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).

Most common symptoms of BNAR SYNDROME

  • Renal agenesis
  • Anteriorly placed anus
  • Anal stenosis
  • Bifid nose
  • Short lingual frenulum


More info about BNAR SYNDROME

SOURCES: ORPHANET

BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR


Most common symptoms of BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

SOURCES: OMIM

OCULOTRICHOANAL SYNDROME


Alternate names

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome, marles syndrome, manitoba oculotrichoanal syndrome, marles-greenberg-persaud syndrome

Description

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

Most common symptoms of OCULOTRICHOANAL SYNDROME

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


More info about OCULOTRICHOANAL SYNDROME

SOURCES: MESH ORPHANET 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

TRIGONOCEPHALY 2; TRIGNO2


Alternate names

TRIGONOCEPHALY 2; TRIGNO2 Is also known as craniosynostosis, metopic

Description

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (OMIM ).A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).

Most common symptoms of TRIGONOCEPHALY 2; TRIGNO2

  • Microcephaly
  • Hypertelorism
  • Craniosynostosis
  • Trigonocephaly
  • Metopic synostosis


More info about TRIGONOCEPHALY 2; TRIGNO2

SOURCES: OMIM

ISOLATED TRIGONOCEPHALY


Alternate names

ISOLATED TRIGONOCEPHALY Is also known as non-syndromic metopic craniosynostosis

Description

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

Most common symptoms of ISOLATED TRIGONOCEPHALY

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges


More info about ISOLATED TRIGONOCEPHALY

SOURCES: ORPHANET


Potential gene panels for FREM1 gene

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

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

FREM1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FREM1 gene.

More info about this panel

Trigonocephaly 2 (sequence analysis of FREM1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FREM1 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Microphthalmia (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

MOTA syndrome (sequence analysis of FREM1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FREM1 gene.

More info about this panel

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

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

Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8–23 Deletion Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FREM1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

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

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

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

Bifid nose Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FREM1 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

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

Microphthalmy Panel Panel

Germany.

By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

Single gene testing FREM1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FREM1 gene.

More info about this panel

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

Craniosysostosis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43

More info about this panel

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

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

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

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

FREM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FREM1 gene.

More info about this panel

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

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

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

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

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

BNAR Syndrome , Sequencing FREM1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FREM1 gene.

More info about this panel

Manitoba Oculotrichoanal Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FREM1 gene.

More info about this panel

Manitoba Oculotrichoanal Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FREM1 gene.

More info about this panel


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