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DSPP

dentin sialophosphoprotein

HCNC Approved Symbol
DSPP (HGNC:3054)
Genomic Coordinates
4:87,608,529 - 87,616,873 (4q22.1)
Synonyms
DMP3, DFNA39, DGI1
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Deafness, autosomal dominant 39, with dentinogenesis
605594AD
Dentin dysplasia, type II
125420AD
Dentinogenesis imperfecta, Shields type II
125490AD
Dentinogenesis imperfecta, Shields type III
125500AD

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the DSPP gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Dentinogenesis imperfecta
 2 (50.0%)
Abnormal facial shape
 1 (25.0%)
Delayed speech
 1 (25.0%)
Delayed speech and language development
 1 (25.0%)
Dysmorphic features
 1 (25.0%)