KLK4 gene related symptoms and diseases

All the information presented here about the KLK4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KLK4 gene

Symptoms // Phenotype % Cases
Carious teeth Uncommon - Between 30% and 50% cases
Open bite Uncommon - Between 30% and 50% cases
Amelogenesis imperfecta Uncommon - Between 30% and 50% cases
Anterior open bite Uncommon - Between 30% and 50% cases

Rare diseases associated to KLK4 gene

Here you will find a list of rare diseases related to the KLK4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1


Alternate names

AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1 Is also known as amelogenesis imperfecta, pigmented hypomaturation type, 1

Description

Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis ImperfectaSee also AI2A2 (OMIM ), caused by mutation in the MMP20 gene (OMIM ); AI2A3 (OMIM ), caused by mutation in the WDR72 gene (OMIM ); and AI2A4 (OMIM ), caused by mutation in the C4ORF26 gene (OMIM ).

Most common symptoms of AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1

  • Carious teeth
  • Open bite
  • Amelogenesis imperfecta
  • Anterior open bite


More info about AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1

SOURCES: OMIM MESH

HYPOMATURATION AMELOGENESIS IMPERFECTA


Alternate names

HYPOMATURATION AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta type 2


More info about HYPOMATURATION AMELOGENESIS IMPERFECTA

SOURCES: ORPHANET


Potential gene panels for KLK4 gene

Amelogenesis Imperfecta via KLK4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM

More info about this panel

Amelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Deletion/ Duplication panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Comprehensive panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders NGS panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Amelogenesis imperfecta panel that also includes the following genes: FAM20A FAM83H ODAPH WDR72 DLX3 ENAM AMELX KLK4

More info about this panel

Amelogenesis imperfecta type 2A1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis imperfecta IIA1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; Trichodontoosseous syndrome Panel

Germany.

By ATG-GenMed ATG-GenMed

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis Imperfecta, Hypomaturation Type, IIA1 | AI2A1 | Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 Panel

Germany.

By ATG-GenMed ATG-GenMed

This panel specifically test the KLK4 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Amelogenesis imperfecta IIA1 Panel

Slovakia.

By MedGene

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis Imperfecta NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amelogenesis Imperfecta NGS Panel that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 FAM20A CRTAP FAM83H

More info about this panel

KLK4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLK4 gene.

More info about this panel

Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel that also includes the following genes: SLC24A4 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68 AMELX

More info about this panel

Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: FAM20A FAM83H WDR72 DLX3 ENAM AMELX KLK4 LAMB3 MMP20

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PDSS2 CDKAL1 MROH9

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more