DLL4 gene related symptoms and diseases

All the information presented here about the DLL4 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 DLL4 gene

Symptoms // Phenotype % Cases
Aplasia cutis congenita Very Common - Between 80% and 100% cases
Calvarial skull defect Very Common - Between 80% and 100% cases
Aplasia cutis congenita of scalp Very Common - Between 80% and 100% cases
Syndactyly Very Common - Between 80% and 100% cases
Portal hypertension Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with DLL4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Brachydactyly
  • Cutis marmorata
  • Oligodactyly
  • Esophageal varix
  • Abnormal cardiac septum morphology
  • Abnormal heart morphology
  • Ventricular septal defect
  • Cutis marmorata telangiectatica congenita

And 109 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DLL4 gene

Here you will find a list of rare diseases related to the DLL4. 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

APLASIA CUTIS CONGENITA


Alternate names

APLASIA CUTIS CONGENITA Is also known as scalp defect, congenital, congenital defect of skull and scalp

Description

Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

Most common symptoms of APLASIA CUTIS CONGENITA

  • Syndactyly
  • Polydactyly
  • Facial palsy
  • Anal atresia
  • Pulmonary hypoplasia


More info about APLASIA CUTIS CONGENITA

SOURCES: OMIM ORPHANET

ADAMS-OLIVER SYNDROME 6; AOS6


Description

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Most common symptoms of ADAMS-OLIVER SYNDROME 6; AOS6

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology


More info about ADAMS-OLIVER SYNDROME 6; AOS6

SOURCES: OMIM


Potential gene panels for DLL4 gene

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

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 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DLL4 gene.

More info about this panel

DLL4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DLL4 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 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 6 Syndrome, Sequencing DLL4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DLL4 gene.

More info about this panel


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