HMX1 gene related symptoms and diseases

All the information presented here about the HMX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HMX1 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Congenital nystagmus Very Common - Between 80% and 100% cases
Inferior chorioretinal coloboma Very Common - Between 80% and 100% cases
Exodeviation Very Common - Between 80% and 100% cases
Microphakia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HMX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short mandibular rami
  • Posterior synechiae of the anterior chamber
  • Polar cataract
  • Macular hypoplasia
  • Nasolacrimal duct obstruction
  • Anterior synechiae of the anterior chamber
  • Anterior segment developmental abnormality
  • Sclerocornea

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HMX1 gene

Here you will find a list of rare diseases related to the HMX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OCULOAURICULAR SYNDROME, SCHORDERET TYPE


Alternate names

OCULOAURICULAR SYNDROME, SCHORDERET TYPE Is also known as schorderet-munier-franceschetti syndrome, microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear

Description

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).

Most common symptoms of OCULOAURICULAR SYNDROME, SCHORDERET TYPE

  • Nystagmus
  • Strabismus
  • Cataract
  • Microphthalmia
  • Rod-cone dystrophy


More info about OCULOAURICULAR SYNDROME, SCHORDERET TYPE

SOURCES: OMIM MESH ORPHANET


Potential gene panels for HMX1 gene

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

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

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

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

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

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

HMX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HMX1 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

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


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