ATOH7 gene related symptoms and diseases
All the information presented here about the ATOH7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATOH7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Buphthalmos | Very Common - Between 80% and 100% cases |
| Microphthalmia | Very Common - Between 80% and 100% cases |
| Glaucoma | Very Common - Between 80% and 100% cases |
| Corneal opacity | Very Common - Between 80% and 100% cases |
| Microcornea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATOH7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cataract
- Anterior synechiae of the anterior chamber
Not very common - Between 30% and 50% cases
- Generalized hypotonia
- Uveitis
- Pendular nystagmus
- Vitreoretinopathy
- Bilateral microphthalmos
- Retinal fold
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATOH7 gene
Here you will find a list of rare diseases related to the ATOH7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY
Alternate names
CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Is also known as copoa, sclerocornea with other ocular anomalies, corneal opacification with other ocular anomalies, ccmco
Description
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).
Most common symptoms of CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY
- Generalized hypotonia
- Cataract
- Microphthalmia
- Glaucoma
- Corneal opacity
More info about CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY
PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
Alternate names
PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc, persistent fetal vasculature, persistent fetal vasculature syndrome, pfvs, congenital retinal detachment, ncrna disease, retinal nonattachment and falciform detachment, ncrna, phpv, retinal nonattachment, nonsyndromic congenital, non-syndromic congenital ret
Description
Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ).
Most common symptoms of PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
- Nystagmus
- Cataract
- Blindness
- Microphthalmia
- Glaucoma
More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS
Search interest in ATOH7
Potential gene panels for ATOH7 gene
Persistent hyperplastic primary vitreous, AR (sequence analysis of ATOH7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATOH7 gene.
More info about this panel Portugal.
Glaucoma Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panel United States.
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4
More info about this panel United States.
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.
Retinal nonattachment nonsyndromic congenital Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ATOH7 gene.
More info about this panel Germany.
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.
Vitreoretinopathy panel Panel
United States.
By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5
More info about this panel United States.
ATOH7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATOH7 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Vitreoretinopathy Panel Panel
Finland.
By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1
More info about this panel Finland.
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