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
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
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
Search interest in SLC24A4
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 Portugal.
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.
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 Germany.
SLC24A4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC24A4 gene.
More info about this panel United States.
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.
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