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.
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
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
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
Search interest in DLL4
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 United States.
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 United States.
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 United States.
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 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.
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 Germany.
DLL4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DLL4 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Spain.
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 Spain.
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 Spain.
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