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.

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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

SOURCES: OMIM ORPHANET

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 ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

Most common symptoms of PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

ATOH7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATOH7 gene.

More info about this panel

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

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


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