RARB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to RARB gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Wide nasal bridge Very Common - Between 80% and 100% cases
Bicornuate uterus Very Common - Between 80% and 100% cases
Anophthalmia Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Pulmonary hypoplasia
  • Hypoplastic left atrium
  • Hernia
  • Microphthalmia
  • Ventricular septal defect
  • Brachycephaly
  • Micrognathia
  • Cryptorchidism

And 81 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RARB gene

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


MATTHEW-WOOD SYNDROME


Alternate names

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm, syndromic microphthalmia type 9, mcops9, pulmonary agenesis, microphthalmia, and diaphragmatic defect, anophthalmia-pulmonary hypoplasia syndrom

Description

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

Most common symptoms of MATTHEW-WOOD SYNDROME

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


More info about MATTHEW-WOOD SYNDROME

SOURCES: ORPHANET OMIM

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


Alternate names

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Most common symptoms of MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

SOURCES: OMIM


Potential gene panels for RARB gene

Anophthalmia/microphthalmia Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2

More info about this panel

Microphthalmia (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Microphthalmy Panel Panel

Germany.

By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

RARB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RARB gene.

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10

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

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

More info about this panel


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