ZNF469 gene related symptoms and diseases

All the information presented here about the ZNF469 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZNF469 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Joint hypermobility Very Common - Between 80% and 100% cases
Megalocornea Very Common - Between 80% and 100% cases
Keratoconus Very Common - Between 80% and 100% cases
Hallux valgus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZNF469 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased susceptibility to fractures
  • Hyperextensible skin
  • Scoliosis
  • Congenital hip dislocation
  • Blue sclerae
  • High myopia
  • Mitral valve prolapse
  • Keratoglobus

And 59 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ZNF469 gene

Here you will find a list of rare diseases related to the ZNF469. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRITTLE CORNEA SYNDROME

Description

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Most common symptoms of BRITTLE CORNEA SYNDROME

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


More info about BRITTLE CORNEA SYNDROME

SOURCES: OMIM ORPHANET

BRITTLE CORNEA SYNDROME 1; BCS1

Alternate names

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly, dysgenesis mesodermalis corneae et sclerae, corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility, eds6b, formerly, fragilitas oculi with joint hyperextensibility

Description

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

Most common symptoms of BRITTLE CORNEA SYNDROME 1; BCS1

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


More info about BRITTLE CORNEA SYNDROME 1; BCS1

SOURCES: OMIM


Potential gene panels for ZNF469 gene

NGS Connective Tissue Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2

More info about this panel
United States.

Connective Tissue Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS

More info about this panel
United States.

Familial Aneurysm and Aortopathy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS

More info about this panel
United States.

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel
United States.

Brittle cornea syndrome 1 (sequence analysis of ZNF469 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ZNF469 gene.

More info about this panel
Portugal.

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel
United States.

Corneal Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469

More info about this panel
United States.

Brittle Cornea Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Brittle Cornea Syndrome Sequencing Panel with CNV Detection that also includes the following genes: ZNF469 PRDM5

More info about this panel
United States.

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel
United States.

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel
United States.

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel
United States.

Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel
United States.

Ehlers-Danlos syndrome NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1

More info about this panel
United States.

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel
United States.

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel
United States.

Brittle cornea syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Brittle cornea syndrome NGS panel that also includes the following genes: ZNF469 PRDM5

More info about this panel
United States.

Brittle cornea syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Brittle cornea syndrome Comprehensive panel that also includes the following genes: ZNF469 PRDM5

More info about this panel
United States.

Brittle cornea syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Brittle cornea syndrome Deletion/ Duplication panel that also includes the following genes: ZNF469 PRDM5

More info about this panel
United States.

Brittle cornea syndrome 1 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ZNF469 gene.

More info about this panel
United States.

Brittle cornea syndrome 1 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ZNF469 gene.

More info about this panel
United States.

Brittle cornea syndrome 1 Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ZNF469 gene.

More info about this panel
United States.

Keratoconus and related disorders Comprehensive test Panel

United States.

By Connective Tissue Gene Tests Keratoconus and related disorders Comprehensive test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5

More info about this panel
United States.

Keratoconus and related disorders Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests Keratoconus and related disorders Deletion / Duplication test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5

More info about this panel
United States.

Keratoconus and related disorders NGS test Panel

United States.

By Connective Tissue Gene Tests Keratoconus and related disorders NGS test that also includes the following genes: VSX1 ZNF469 MIR184 PRDM5

More info about this panel
United States.

Connective tissue disorder Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Connective tissue disorder Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Connective tissue disorder NGS panel Panel

United States.

By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2

More info about this panel
United States.

Ehlers-Danlos Syndrome (EDS) Panel

Germany.

By MGZ Medical Genetics Center Ehlers-Danlos Syndrome (EDS) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 ZNF469 CHST14

More info about this panel
Germany.

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.

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel
Germany.

Brittle cornea syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZNF469 gene.

More info about this panel
Germany.

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel
Germany.

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel
Germany.

Corneal Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2

More info about this panel
Estonia.

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
Estonia.

Ehlers-Danlos Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2

More info about this panel
Estonia.

Brittle Cornea gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Brittle Cornea gene panel that also includes the following genes: ZNF469 PRDM5

More info about this panel
Belgium.

ZNF469 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ZNF469 gene.

More info about this panel
Belgium.

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel
Netherlands.

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel
Netherlands.

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel
Netherlands.

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1

More info about this panel
Netherlands.

NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1

More info about this panel
Netherlands.

Connective Tissue Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel
United States.

Connective Tissue Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel
United States.

Connective Tissue NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel
United States.

ZNF469 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZNF469 gene.

More info about this panel
United States.

Corneal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2

More info about this panel
Finland.

Aorta Panel Panel

Finland.

By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS

More info about this panel
Finland.

Ehlers-Danlos Syndrome Panel Panel

Finland.

By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2

More info about this panel
Finland.

BRITTLE CORNEA SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL BRITTLE CORNEA SYNDROME that also includes the following genes: ZNF469 PRDM5

More info about this panel
Spain.

Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469

More info about this panel
Spain.

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

Spain.

By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1

More info about this panel
Spain.

Brittle Cornea Syndrome , Panel Massive Sequencing (NGS) ZNF469, PRDM5 Genes Panel

Spain.

By Reference Laboratory Genetics Brittle Cornea Syndrome , Panel Massive Sequencing (NGS) ZNF469, PRDM5 Genes that also includes the following genes: ZNF469 PRDM5

More info about this panel
Spain.

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