FAM83H gene related symptoms and diseases

All the information presented here about the FAM83H gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FAM83H gene

Symptoms // Phenotype % Cases
Dental malocclusion Very Common - Between 80% and 100% cases
Hypoplasia of dental enamel Very Common - Between 80% and 100% cases
Open bite Very Common - Between 80% and 100% cases
Amelogenesis imperfecta Very Common - Between 80% and 100% cases
Gingivitis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FAM83H gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Periodontitis
  • Anterior open bite

Rare diseases associated to FAM83H gene

Here you will find a list of rare diseases related to the FAM83H. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOCALCIFIED AMELOGENESIS IMPERFECTA

Alternate names

HYPOCALCIFIED AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta, hypocalcification type, autosomal dominant, ai3, amelogenesis imperfecta type 3, amelogenesis imperfecta, type iii, adhcai, amelogenesis imperfecta, hypomineralization type

Description

Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975).

Most common symptoms of HYPOCALCIFIED AMELOGENESIS IMPERFECTA

  • Dental malocclusion
  • Hypoplasia of dental enamel
  • Open bite
  • Amelogenesis imperfecta
  • Gingivitis


More info about HYPOCALCIFIED AMELOGENESIS IMPERFECTA

SOURCES: ORPHANET OMIM


Potential gene panels for FAM83H gene

Amelogenesis imperfecta type III (sequence analysis of FAM83H gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FAM83H gene.

More info about this panel
Portugal.

Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FAM83H gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

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
United States.

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
Netherlands.

Amelogenesis imperfecta type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FAM83H gene.

More info about this panel
Germany.

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
Spain.

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
United States.

FAM83H Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAM83H gene.

More info about this panel
United States.

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel
Finland.

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
Finland.

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel
Finland.

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
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ADCY1 PIGN BCOR HBB SCN4A OGDH SPTB