Details of Disease

General Information of Disease (ID: DISS0DLW)

Disease Name Dentin dysplasia type I
Synonyms
dentin dysplasia, type I; dentin dysplasia, type I, with extreme microdontia and misshapen teeth; rootless teeth; dentin dysplasia, type 1; dentin dysplasia, Shields type 1; radicular dentin dysplasia; dentin dysplasia type I; DD-I; dentin dysplasia, type i, with microdontia and misshapen teeth; DTDP1
Definition Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.
Disease Hierarchy
DISYKSRF: Genetic disease
DISCGIX8: Dentin dysplasia
DISS0DLW: Dentin dysplasia type I
Disease Identifiers
MONDO ID
MONDO_0007436
MESH ID
C538215
UMLS CUI
C0399379
OMIM ID
125400
MedGen ID
97996
Orphanet ID
99789
SNOMED CT ID
109493006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VPS4B OT6FLMAN Supportive Autosomal dominant [1]
DSPP OT1TYNDN Supportive Autosomal dominant [2]
SSUH2 OTWUBDV0 Supportive Autosomal dominant [3]
SMOC2 OTK1EQ49 Strong Autosomal recessive [4]
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References

1 A splicing mutation in VPS4B causes dentin dysplasia I. J Med Genet. 2016 Sep;53(9):624-33. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 May 31.
2 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
3 Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017 Jan;38(1):95-104. doi: 10.1002/humu.23130. Epub 2016 Oct 19.
4 Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002.