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

SOURCES: ORPHANET OMIM

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


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 panel

Adams-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 panel

Cornelia 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 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

Adams-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 panel

Adams-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 panel

Adams-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 panel

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

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

Adams-Oliver syndrome type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RBPJ gene.

More info about this panel

Adams-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 panel

Comprehensive 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 panel

Limb 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 panel

Comprehensive 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 panel

ADAMS-OLIVER SYNDROME 2; AOS2 Panel

Spain.

By Bioarray

This panel specifically test the RBPJ gene.

More info about this panel

ADAMS-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 panel

ADAMS-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 panel

Adams-Oliver Type 3 Syndrome, Sequencing RBPJ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RBPJ gene.

More info about this panel

Tempus 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 panel


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