MCID: TRC118
MIFTS: 29

Trichodentoosseous Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Trichodentoosseous Syndrome

MalaCards integrated aliases for Trichodentoosseous Syndrome:

Name: Trichodentoosseous Syndrome 57 75
Tricho-Dento-Osseous Syndrome 53 59 29 6 40 73
Tdo Syndrome 57 53 59 75 55
Trichodontoosseous Syndrome 57 13
Tdo 57 75
Enamel Hypoplasia and Hypocalcification with Associated Strikingly Curly Hair 53

Characteristics:

Orphanet epidemiological data:

59
tricho-dento-osseous syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
hair tends to straighten by 2nd-3rd decade


HPO:

32
trichodentoosseous syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 190320
Orphanet 59 ORPHA3352
MESH via Orphanet 45 C536549
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 74 C0265333
MedGen 42 C0265333
UMLS 73 C0265333

Summaries for Trichodentoosseous Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3352Disease definitionTricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised 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.EpidemiologyThe prevalence is unknown but the disease has been described in at least 8 families with over 30 affected members in some large kindreds.Clinical descriptionThe disease shows significant inter and intrafamilial clinical variation, with enamel hypoplasia and taurodontism being the most consistent features, however, the extent of the enamel defects may also vary between affected family members. The hair and bone manifestations are more variable and age dependent. Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence. The BMD measurements show increasing variability with age, particularly in the radius and ulna. In addition, spinal BMD shows an increase with age. Other reported features include flat/brittle fingernails, increased susceptibility for caries and abscesses, delayed dental eruption, tubular sclerosis of the long bones, dolichocephaly (as a result of craniosynostosis), and an absence of mastoid pneumatisation, the frontal sinus and calvarial diploe.EtiologyThe syndrome is caused by mutations in the distal-less homeoboxgene (DLX3), located on the long arm of chromosome 17 (17q21.3-q22).Diagnostic methodsDiagnosis can be made by clinical and radiological examination and confirmed by detection of DLX3 mutations.Differential diagnosisThe differential diagnosis should include amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism (AIHHT), oculodentoosseous dysplasia (see this term) and the autosomal dominant form of osteopetrosis (see this term).Genetic counselingThe disease is transmitted as a highly penetrant autosomal dominant trait.Management and treatmentTreatment is symptomatic and patients require frequent dental follow-up.PrognosisThe prognosis is good and there appearsto be no predisposition for developing fractures.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trichodentoosseous Syndrome, also known as tricho-dento-osseous syndrome, is related to tricho-dento-osseous syndrome 1 and glioblastoma. An important gene associated with Trichodentoosseous Syndrome is DLX3 (Distal-Less Homeobox 3). Affiliated tissues include bone and skin, and related phenotypes are abnormality of the mastoid and dolichocephaly

OMIM : 57 Trichodentoosseous syndrome is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013). (190320)

UniProtKB/Swiss-Prot : 75 Trichodentoosseous syndrome: An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.

Wikipedia : 76 Tricho-dento-osseous syndrome (TDO) is a rare, systemic, autosomal dominant genetic disorder that causes... more...

Related Diseases for Trichodentoosseous Syndrome

Diseases related to Trichodentoosseous Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tricho-dento-osseous syndrome 1 10.9
2 glioblastoma 9.9
3 amelogenesis imperfecta, type iv 9.9
4 taurodontism 9.9
5 amelogenesis imperfecta 9.9
6 dentin dysplasia 9.9

Graphical network of the top 20 diseases related to Trichodentoosseous Syndrome:



Diseases related to Trichodentoosseous Syndrome

Symptoms & Phenotypes for Trichodentoosseous Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing

Head And Neck Teeth:
taurodontism
thin enamel
small, widely spaced teeth
teeth pits
periapical abscesses

Skeletal:
increased bone density, mild-moderate (skull, spine, long bones)

Skin Nails Hair Hair:
kinky hair

Head And Neck Head:
dolichocephaly

Skin Nails Hair Nails:
brittle nails

Skeletal Skull:
obliteration of calvarial diploe
poorly pneumatized mastoids


Clinical features from OMIM:

190320

Human phenotypes related to Trichodentoosseous Syndrome:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of the mastoid 32 HP:0000264
2 dolichocephaly 32 HP:0000268
3 taurodontia 32 HP:0000679
4 widely spaced teeth 32 HP:0000687
5 microdontia 32 HP:0000691
6 abnormality of the hair 32 HP:0001595
7 fragile nails 32 HP:0001808
8 frontal bossing 32 HP:0002007
9 increased bone mineral density 32 HP:0011001

Drugs & Therapeutics for Trichodentoosseous Syndrome

Search Clinical Trials , NIH Clinical Center for Trichodentoosseous Syndrome

Genetic Tests for Trichodentoosseous Syndrome

Genetic tests related to Trichodentoosseous Syndrome:

# Genetic test Affiliating Genes
1 Tricho-Dento-Osseous Syndrome 29 DLX3

Anatomical Context for Trichodentoosseous Syndrome

MalaCards organs/tissues related to Trichodentoosseous Syndrome:

41
Bone, Skin

Publications for Trichodentoosseous Syndrome

Articles related to Trichodentoosseous Syndrome:

(show all 26)
# Title Authors Year
1
Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family. ( 26104267 )
2015
2
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. ( 24992867 )
2014
3
Craniofacial variations in the tricho-dento-osseous syndrome. ( 22671030 )
2013
4
Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. ( 23949819 )
2013
5
Tricho-dento-osseous syndrome: diagnosis and dental management. ( 22969805 )
2012
6
A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate I9Np63I+. ( 21520071 )
2011
7
DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes. ( 21252474 )
2011
8
Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome. ( 18492670 )
2008
9
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. ( 18203197 )
2008
10
A patient with melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report. ( 18284671 )
2008
11
Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity. ( 16301156 )
2005
12
Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome. ( 15454107 )
2004
13
Characterization and mRNA expression in an unusual odontogenic lesion in a patient with tricho-dento-osseous syndrome. ( 12792897 )
2003
14
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. ( 10466415 )
1999
15
Enamel structure and composition in the tricho-dento-osseous syndrome. ( 11062998 )
1998
16
A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. ( 9783705 )
1998
17
Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. ( 9361034 )
1997
18
Analysis of the tricho-dento-osseous syndrome genotype and phenotype. ( 9382143 )
1997
19
Craniofacial morphology of the tricho-dento-osseous syndrome. ( 9147871 )
1996
20
Tricho-dento-osseous syndrome. Features of the hair and teeth. ( 8028872 )
1994
21
Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? ( 2387085 )
1990
22
Tricho-dento-osseous syndrome. ( 3481527 )
1987
23
Tricho-dento-osseous syndrome: heterogeneity or clinical variability. ( 6650567 )
1983
24
Clinical heterogeneity in the tricho-dento-osseous syndrome. ( 6885044 )
1983
25
Tricho-dento-osseous syndrome. ( 1063810 )
1976
26
Dental abnormalities in the tricho-dento-osseous syndrome. ( 4518033 )
1973

Variations for Trichodentoosseous Syndrome

ClinVar genetic disease variations for Trichodentoosseous Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DLX3 NM_005220.2(DLX3): c.571_574delGGGG (p.Gly191Argfs) deletion Pathogenic rs387906405 GRCh37 Chromosome 17, 48069171: 48069174
2 DLX3 NM_005220.2(DLX3): c.571_574delGGGG (p.Gly191Argfs) deletion Pathogenic rs387906405 GRCh38 Chromosome 17, 49991807: 49991810
3 DLX3 NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs) deletion Pathogenic rs387906406 GRCh37 Chromosome 17, 48069183: 48069184
4 DLX3 NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs) deletion Pathogenic rs387906406 GRCh38 Chromosome 17, 49991819: 49991820
5 DLX3 NM_005220.2(DLX3): c.574delG (p.Glu192Argfs) deletion Pathogenic GRCh37 Chromosome 17, 48069171: 48069171
6 DLX3 NM_005220.2(DLX3): c.574delG (p.Glu192Argfs) deletion Pathogenic GRCh38 Chromosome 17, 49991807: 49991807
7 DLX3 NM_005220.2(DLX3): c.476G> T (p.Arg159Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 49993440: 49993440
8 DLX3 NM_005220.2(DLX3): c.476G> T (p.Arg159Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 48070804: 48070804

Expression for Trichodentoosseous Syndrome

Search GEO for disease gene expression data for Trichodentoosseous Syndrome.

Pathways for Trichodentoosseous Syndrome

GO Terms for Trichodentoosseous Syndrome

Sources for Trichodentoosseous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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