CDH3 gene related symptoms and diseases

All the information presented here about the CDH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDH3 gene

Symptoms // Phenotype % Cases
Macular degeneration Very Common - Between 80% and 100% cases
Abnormality of the dentition Very Common - Between 80% and 100% cases
Macular dystrophy Very Common - Between 80% and 100% cases
Hypotrichosis Very Common - Between 80% and 100% cases
Ectodermal dysplasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDH3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sparse scalp hair
  • Not very common - Between 30% and 50% cases

  • Short stature
  • Camptodactyly
  • Retinopathy
  • Finger syndactyly
  • Carious teeth
  • Microdontia
  • Split hand

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDH3 gene

Here you will find a list of rare diseases related to the CDH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION


Alternate names

HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION Is also known as hypotrichosis with juvenile macular dystrophy, hypotrichosis with cone-rod dystrophy, hjmd

Description

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Most common symptoms of HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION

  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition
  • Alopecia


More info about HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION

SOURCES: OMIM MESH ORPHANET

EEM SYNDROME


Alternate names

EEM SYNDROME Is also known as eem syndrome, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Description

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

Most common symptoms of EEM SYNDROME

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


More info about EEM SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for CDH3 gene

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

CDH3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Hypotrichosis, congenital, with juvenile macular dystrophy (sequence analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Hypotrichosis with juvenile macular degeneration (deletion/duplication analysis of CDH3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

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

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

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Single gene testing CDH3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CDH3 gene.

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

Stargardt Panel Panel

United States.

By Molecular Vision Laboratory Stargardt Panel that also includes the following genes: TIMP3 BEST1 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 DRAM2 EFEMP1 ABCA4

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

STARGARDT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Ectodermal dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ectodermal dysplasia that also includes the following genes: TRAF6 WNT10A EDARADD TP63 CDH3 EDA2R EDAR EDA GJB6 IKBKG

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4

More info about this panel

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel that also includes the following genes: TP63 CDH3

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

CDH3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2

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

Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Ectodermal dysplasia - ectrodactyly - macular dystrophy Panel

Spain.

By Bioarray

This panel specifically test the CDH3 gene.

More info about this panel

HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CDH3 gene.

More info about this panel

Ectrodactyly-Macular Dystrophy-Ectodermal Dysplasia (EEM Syndrome), Sequencing CDH3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CDH3 gene.

More info about this panel

Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: WNT10A EDARADD TP63 CDH3 EDAR EDA GJB6 IKBKG NFKBIA

More info about this panel

Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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