Details of Disease

General Information of Disease (ID: DISXZOGV)

Disease Name Tricho-dento-osseous syndrome
Synonyms
kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails; Tricho-dento-osseous syndrome 1; enamel hypoplasia and hypocalcification with associated strikingly curly hair; TDO syndrome 1; trichodontoosseous syndrome; TDO syndrome; TRICHODENTOOSSEOUS syndrome; Tricho Dento Osseous Syndrome; TDO
Definition
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DIS5Z8U6: Skeletal dysplasia
DISXZOGV: Tricho-dento-osseous syndrome
Disease Identifiers
MONDO ID
MONDO_0008592
MESH ID
C536549
UMLS CUI
C0265333
OMIM ID
190320
MedGen ID
78555
Orphanet ID
3352
SNOMED CT ID
38993008

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
NOMO1 OTIALEI1 Limited Biomarker [1]
ODAM OTT666SJ Limited Genetic Variation [2]
DLX3 OTARP5SQ Strong Autosomal dominant [3]
DLX4 OTLWVCN4 Strong Genetic Variation [4]
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References

1 DLX3 promotes bone marrow mesenchymal stem cell proliferation through H19/miR-675 axis.Clin Sci (Lond). 2017 Nov 13;131(22):2721-2735. doi: 10.1042/CS20171231. Print 2017 Nov 15.
2 Transcriptional factor DLX3 promotes the gene expression of enamel matrix proteins during amelogenesis.PLoS One. 2015 Mar 27;10(3):e0121288. doi: 10.1371/journal.pone.0121288. eCollection 2015.
3 DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A. 2005 Mar 1;133A(2):138-41. doi: 10.1002/ajmg.a.30521.
4 Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions.Clin Genet. 1999 Jul;56(1):35-40. doi: 10.1034/j.1399-0004.1999.550105.x.