EDNRB gene related symptoms and diseases
All the information presented here about the EDNRB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EDNRB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Aganglionic megacolon | Very Common - Between 80% and 100% cases |
| White forelock | Common - Between 50% and 80% cases |
| Heterochromia iridis | Common - Between 50% and 80% cases |
| Sensorineural hearing impairment | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with EDNRB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ptosis
- Telecanthus
- Premature graying of hair
- Intestinal obstruction
- Hypopigmented skin patches
- White eyebrow
- White eyelashes
- Hypopigmentation of hair
And 81 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EDNRB gene
Here you will find a list of rare diseases related to the EDNRB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ABCD SYNDROME; ABCDS
Alternate names
ABCD SYNDROME; ABCDS Is also known as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Most common symptoms of ABCD SYNDROME; ABCDS
- Hearing impairment
- Hypopigmentation of the skin
- Aganglionic megacolon
- Albinism
- Large for gestational age
More info about ABCD SYNDROME; ABCDS
WAARDENBURG-SHAH SYNDROME
Alternate names
WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome, waardenburg-hirschsprung syndrome, ws4, waardenburg syndrome type 4
Description
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).
Most common symptoms of WAARDENBURG-SHAH SYNDROME
- Hearing impairment
- Wide nasal bridge
- Constipation
- Abdominal pain
- Telecanthus
More info about WAARDENBURG-SHAH SYNDROME
SOURCES: ORPHANET
WAARDENBURG SYNDROME TYPE 2
Alternate names
WAARDENBURG SYNDROME TYPE 2 Is also known as ws2, waardenburg syndrome type ii
Description
Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Most common symptoms of WAARDENBURG SYNDROME TYPE 2
- Hearing impairment
- Sensorineural hearing impairment
- Ptosis
- Telecanthus
- Abnormality of the kidney
More info about WAARDENBURG SYNDROME TYPE 2
SOURCES: ORPHANET
WAARDENBURG SYNDROME, TYPE 4A; WS4A
Alternate names
WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome, waardenburg syndrome, type iva, ws4, waardenburg syndrome with hirschsprung disease, type 4a, shah-waardenburg syndrome
Description
Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ).
Most common symptoms of WAARDENBURG SYNDROME, TYPE 4A; WS4A
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Nystagmus
More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A
SOURCES: OMIM
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
Description
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.
Most common symptoms of HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
- Hearing impairment
- Sensorineural hearing impairment
- Intestinal malrotation
- Aganglionic megacolon
- Heterochromia iridis
More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
SOURCES: OMIM
HIRSCHSPRUNG DISEASE
Alternate names
HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Most common symptoms of HIRSCHSPRUNG DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about HIRSCHSPRUNG DISEASE
Search interest in EDNRB
Potential gene panels for EDNRB gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
Waardenburg syndrome, type 4A Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the EDNRB gene.
More info about this panel United States.
Waardenburg Syndrome Type IVA - EDNRB Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the EDNRB gene.
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Waardenburg Seq + Del/Dup Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq + Del/Dup Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Del/Dup Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome type 4 (sequence analysis of EDNRB and EDN3 genes) that also includes the following genes: EDN3 EDNRB
More info about this panel Portugal.
Waardenburg syndrome type 4A (sequence analysis of EDNRB) Panel
Portugal.
By CGC Genetics
This panel specifically test the EDNRB gene.
More info about this panel Portugal.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Waardenburg syndrome (NGS panel of 7 genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Portugal.
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) that also includes the following genes: SOX10 EDNRB
More info about this panel Portugal.
Waardenburg syndrome (NGS panel of 7 genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Portugal.
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) Panel
Portugal.
By CGC Genetics Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes) that also includes the following genes: SOX10 EDNRB
More info about this panel Portugal.
Waardenburg Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Waardenburg Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection that also includes the following genes: ECE1 EDN3 EDNRB GDNF NRTN RET
More info about this panel United States.
Hirschsprung Disease 2 (HSCR2) via EDNRB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EDNRB gene.
More info about this panel United States.
Waardenburg Syndrome Type IVA via EDNRB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EDNRB gene.
More info about this panel United States.
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Waardenburg syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome NGS panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome Comprehensive panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel United States.
Waardenburg syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Waardenburg syndrome Deletion / Duplication panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel United States.
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.
ABCD syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the EDNRB gene.
More info about this panel Germany.
Waardenburg syndrome/Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EDNRB gene.
More info about this panel Germany.
Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EDNRB 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.
Waardenburg syndrome,Type 4A Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the EDNRB gene.
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Genetic disorders with abnormal pigmentation Panel Panel
Germany.
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panel Germany.
Waardenburg Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Waardenburg Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Estonia.
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
United States.
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Hirschsprung Disease Panel Panel
United States.
By Molecular Vision Laboratory Hirschsprung Disease Panel that also includes the following genes: EDN3 EDNRB RET
More info about this panel United States.
Waardenburg Syndrome panel Panel
United States.
By Molecular Vision Laboratory Waardenburg Syndrome panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3 RET
More info about this panel United States.
EDNRB single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the EDNRB gene.
More info about this panel United States.
Waardenburg, Syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Waardenburg, Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
Waardenburg Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Waardenburg Syndrome NGS Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
Hirschsprung Disease NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hirschsprung Disease NGS Panel that also includes the following genes: ECE1 EDN3 EDNRB GDNF RET
More info about this panel United States.
EDNRB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EDNRB gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Hirschsprung Disease Panel Panel
Finland.
By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Waardenburg Syndrome Panel Panel
Finland.
By Blueprint Genetics Waardenburg Syndrome Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB KIT MITF PAX3
More info about this panel Finland.
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 Finland.
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.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF
More info about this panel Spain.
HIRSCHSPRUNG´S DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE that also includes the following genes: SOX10 EDN3 EDNRB GDNF NRG1 RET
More info about this panel Spain.
WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4) Panel
Spain.
By Laboratorio de Genetica Clinica SL WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4) that also includes the following genes: SOX10 EDN3 EDNRB
More info about this panel Spain.
WAARDENBURG SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL WAARDENBURG SYNDROME NGS PANEL that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Alport & Stickler syndrome hearing loss panel Panel
Canada.
By LifeLabs Genetics Alport & Stickler syndrome hearing loss panel that also includes the following genes: COL11A2 COL4A3 COL4A4 COL4A5 COL9A1 COL9A2 EDNRB
More info about this panel Canada.
Waardenburg Syndrome Type 4A , Sequencing EDNRB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EDNRB gene.
More info about this panel Spain.
Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: ECE1 EDN3 EDNRB GDNF L1CAM RET
More info about this panel Spain.
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3
More info about this panel Spain.
Non syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Non syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: SEMA3C SEMA3D ECE1 EDN3 EDNRB GDNF NRG1 NRG3 NRTN RET
More info about this panel Canada.
Syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
More info about this panel Canada.
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