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).
Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1
- Microphthalmia
- Glaucoma
- Coloboma
- Hypermetropia
- Anophthalmia
More info about MICROPHTHALMIA, ISOLATED 1; MCOP1
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
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
Search interest in SIX6
Potential gene panels for SIX6 gene
MitoMet®Plus aCGH Analysis Panel
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 panelAnophthalmia/microphthalmia Panel
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 panelMicrophthalmia (NGS panel for 26 genes) Panel
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 panelAnophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
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 panelCataract Panel
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 panelEye Diseases - panels Panel
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 panelMicrophthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
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 panelPAX6-Related Anophthalmia Panel
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 panelMicrophthalmia syndromic type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SIX6 gene.
More info about this panelMicrophthalmia panel Panel
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 panelAllNeuro panel Panel
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 panelMicrophthalmy Panel Panel
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 panelAnophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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 panelCataract Panel
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 panelEye diseases comprehensive panel Panel
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 panelDevelopmental Eye Disease panel Panel
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 panelSIX6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIX6 gene.
More info about this panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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 panelANOPHTHALMIA/ MICROPHTALMIA Panel
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 panelANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
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 panelMicrophthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
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
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