SIX6 gene related symptoms and diseases

All the information presented here about the SIX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SIX6 gene

Symptoms // Phenotype % Cases
Microphthalmia Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases
Glaucoma Common - Between 50% and 80% cases
Anophthalmia Common - Between 50% and 80% cases
Sclerocornea Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SIX6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Iris coloboma
  • Cataract
  • Chorioretinal coloboma
  • Not very common - Between 30% and 50% cases

  • Spastic diplegia
  • Rib fusion
  • 11 pairs of ribs
  • Missing ribs
  • Esophageal atresia

And 79 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SIX6 gene

Here you will find a list of rare diseases related to the SIX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROPHTHALMIA, ISOLATED 1; MCOP1

Alternate names

MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop

Description

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated MicrophthalmiaMCOP1 has been mapped to chromosome 14q32. MCOP2 (OMIM ) is caused by mutation in the CHX10 gene (OMIM ) on chromosome 14q24. MCOP3 (OMIM ) is caused by mutation in the RAX gene (OMIM ) on chromosome 18q21.3. MCOP4 (OMIM ) is caused by mutation in the GDF6 gene (OMIM ) on chromosome 8q22.1. MCOP5 (OMIM ) is caused by mutation in the MFRP gene (OMIM ) on chromosome 11q23. MCOP6 (OMIM ) is caused by mutation in the PRSS56 gene (OMIM ) on chromosome 2q37.1. MCOP7 (OMIM ) is caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13.1. MCOP8 (OMIM ) is caused by mutation in the ALDH1A3 gene (OMIM ) on chromosome 15q26.

Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1

  • Microphthalmia
  • Glaucoma
  • Coloboma
  • Hypermetropia
  • Anophthalmia


More info about MICROPHTHALMIA, ISOLATED 1; MCOP1

SOURCES: MESH OMIM ORPHANET

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Alternate names

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, microphthalmia and esophageal atresia syndrome, mcops3, syndromic microphthalmia type 3

Description

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

Most common symptoms of ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

SOURCES: ORPHANET OMIM

COLOBOMATOUS OPTIC DISC-MACULAR ATROPHY-CHORIORETINOPATHY SYNDROME

Most common symptoms of COLOBOMATOUS OPTIC DISC-MACULAR ATROPHY-CHORIORETINOPATHY SYNDROME

  • Nystagmus
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Reduced visual acuity


More info about COLOBOMATOUS OPTIC DISC-MACULAR ATROPHY-CHORIORETINOPATHY SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for SIX6 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel
United States.

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
Denmark.

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
Portugal.

Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3

More info about this panel
United States.

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel
Germany.

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
Germany.

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel
Germany.

PAX6-Related Anophthalmia Panel

Germany.

By Bioscientia GmbH Center for Human Genetics PAX6-Related Anophthalmia that also includes the following genes: SIX6 SOX2 VSX2 OTX2 PAX6

More info about this panel
Germany.

Microphthalmia syndromic type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SIX6 gene.

More info about this panel
Germany.

Microphthalmia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Microphthalmia panel that also includes the following genes: BMP4 SIX6 SOX2 RAX VSX2 BCOR TENM3 STRA6 ALDH1A3 HCCS

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

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
Germany.

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
Estonia.

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel
Estonia.

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
Estonia.

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
United States.

SIX6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SIX6 gene.

More info about this panel
United States.

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
Finland.

ANOPHTHALMIA/ MICROPHTALMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6

More info about this panel
Spain.

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
Spain.

Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP4 SIX6 SOX2 VAX1 RAX VSX2 BCOR STRA6 GDF3 GDF6

More info about this panel
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRICKLE2 CASTOR3 NUDT15 HOXA1 DOCK8 PDGFRL CFHR3