EPHB4 gene related symptoms and diseases

All the information presented here about the EPHB4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EPHB4 gene

Symptoms // Phenotype % Cases
Anemia Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Overriding aorta Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EPHB4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dilatation
  • Headache
  • Absence of the pulmonary valve
  • Tetralogy of Fallot with absent pulmonary valve
  • Pulmonary valve atresia
  • Right ventricular failure
  • Endocarditis
  • Abnormal nasal morphology

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EPHB4 gene

Here you will find a list of rare diseases related to the EPHB4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TETRALOGY OF FALLOT


Description

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Most common symptoms of TETRALOGY OF FALLOT

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


More info about TETRALOGY OF FALLOT

SOURCES: OMIM MESH ORPHANET

VEIN OF GALEN ANEURYSMAL MALFORMATION


Alternate names

VEIN OF GALEN ANEURYSMAL MALFORMATION Is also known as vein of galen arteriovenous malformations

Description

Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.

Most common symptoms of VEIN OF GALEN ANEURYSMAL MALFORMATION

  • Congestive heart failure
  • Headache
  • Dilatation
  • Abnormality of the cerebral vasculature
  • Prominent superficial veins


More info about VEIN OF GALEN ANEURYSMAL MALFORMATION

SOURCES: MESH ORPHANET

HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD


Description

HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Most common symptoms of HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

SOURCES: OMIM


Potential gene panels for EPHB4 gene

Primary lymphedema and Hydrops fetalis Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2

More info about this panel

Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN) that also includes the following genes: STAMBP EPHB4 PTEN RASA1

More info about this panel

EPHB4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPHB4 gene.

More info about this panel

Focus::Renal® NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL

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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