RBPJ gene related symptoms and diseases
All the information presented here about the RBPJ gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RBPJ gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Short distal phalanx of finger | Very Common - Between 80% and 100% cases |
| Syndactyly | Very Common - Between 80% and 100% cases |
| Aplasia cutis congenita | Very Common - Between 80% and 100% cases |
| Abnormal heart morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RBPJ gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent toe
- Microcephaly
- Global developmental delay
Not very common - Between 30% and 50% cases
- Aortic valve stenosis
- Cutaneous finger syndactyly
- Arteriovenous malformation
- Calvarial skull defect
- Double outlet right ventricle
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to RBPJ gene
Here you will find a list of rare diseases related to the RBPJ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADAMS-OLIVER SYNDROME
Alternate names
ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects, congenital scalp defects with distal limb reduction anomalies, congenital scalp defects with distal limb anomalies, aos, absence defect of limbs, scalp, and skull, limb, scalp and skull defects
Description
Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
Most common symptoms of ADAMS-OLIVER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ADAMS-OLIVER SYNDROME
ADAMS-OLIVER SYNDROME 3; AOS3
Description
Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).
Most common symptoms of ADAMS-OLIVER SYNDROME 3; AOS3
- Intellectual disability
- Global developmental delay
- Microcephaly
- Motor delay
- Syndactyly
More info about ADAMS-OLIVER SYNDROME 3; AOS3
SOURCES: OMIM
Search interest in RBPJ
Potential gene panels for RBPJ gene
RBPJ. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RBPJ gene.
More info about this panelAdams-Oliver syndrome 3 (AOS3, sequence analysis of RBPJ gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RBPJ gene.
More info about this panelCornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
More info about this panelSkeletal 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 panelAdams-Oliver syndrome Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Adams-Oliver syndrome Deletion/ Duplication panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelAdams-Oliver syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Adams-Oliver syndrome NGS panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelAdams-Oliver syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Adams-Oliver syndrome Comprehensive panel that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelMental 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 panelSyndromal 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 panelAdams-Oliver syndrome type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RBPJ gene.
More info about this panelAdams-Oliver Syndrome Panel Panel
Finland.
By Blueprint Genetics Adams-Oliver Syndrome Panel that also includes the following genes: UBR1 KCTD1 DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelLimb Malformations Panel Panel
Finland.
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelADAMS-OLIVER SYNDROME 2; AOS2 Panel
Spain.
By Bioarray
This panel specifically test the RBPJ gene.
More info about this panelADAMS-OLIVER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL ADAMS-OLIVER SYNDROME that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelADAMS-OLIVER SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ADAMS-OLIVER SYNDROME NGS PANEL that also includes the following genes: DOCK6 EOGT DLL4 ARHGAP31 RBPJ NOTCH1
More info about this panelAdams-Oliver Type 3 Syndrome, Sequencing RBPJ Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RBPJ gene.
More info about this panelTempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PEX11B ALDH1A3 ABCC6 SLC6A20 BCO1 USF1 SCN1B
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