SIPA1L3 gene related symptoms and diseases
All the information presented here about the SIPA1L3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SIPA1L3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Congenital cataract | Very Common - Between 80% and 100% cases |
| Sutural cataract | Uncommon - Between 30% and 50% cases |
| Lenticonus | Uncommon - Between 30% and 50% cases |
| Anterior polar cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SIPA1L3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cortical cataract
- Polar cataract
- Posterior polar cataract
- Inspiratory stridor
- Nuclear cataract
- Severe vision loss
- Preauricular pit
- Stridor
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SIPA1L3 gene
Here you will find a list of rare diseases related to the SIPA1L3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 45; CTRCT45
Most common symptoms of CATARACT 45; CTRCT45
- Cataract
- Congenital cataract
More info about CATARACT 45; CTRCT45
SOURCES: OMIM
TOTAL EARLY-ONSET CATARACT
Alternate names
TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea
Most common symptoms of TOTAL EARLY-ONSET CATARACT
- Cataract
- Visual impairment
- Ventricular septal defect
- Microphthalmia
- Patent ductus arteriosus
More info about TOTAL EARLY-ONSET CATARACT
Search interest in SIPA1L3
Potential gene panels for SIPA1L3 gene
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.
Cataract panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR
More info about this panel Germany.
Cataract Panel Panel
Germany.
By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12
More info about this panel Germany.
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.
SIPA1L3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIPA1L3 gene.
More info about this panel United States.
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