SLC24A4 gene related symptoms and diseases

All the information presented here about the SLC24A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC24A4 gene

Symptoms // Phenotype % Cases
Amelogenesis imperfecta Uncommon - Between 30% and 50% cases
Carious teeth Rare - less than 30% cases
Dental malocclusion Rare - less than 30% cases
Hypoplasia of dental enamel Rare - less than 30% cases
Open bite Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with SLC24A4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Gingivitis
  • Periodontitis
  • Anterior open bite
  • Abnormality of the hair
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Rare diseases associated to SLC24A4 gene

Here you will find a list of rare diseases related to the SLC24A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5


Description

Autosomal recessive amelogenesis imperfecta of the 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).

Most common symptoms of AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5

  • Carious teeth
  • Amelogenesis imperfecta


More info about AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5

SOURCES: OMIM

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

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6


Alternate names

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 Is also known as skin/hair/eye pigmentation 6, blue/green eyes, skin/hair/eye pigmentation 6, blond/brown hair

Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6

  • Abnormality of the hair


More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6

SOURCES: OMIM

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 SLC24A4 gene

Amelogenesis imperfecta type IIA5 (sequence analysis of SLC24A4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC24A4 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

Skin hair eye pigmentation 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC24A4 gene.

More info about this panel

SLC24A4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC24A4 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


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