MCID: TRC029
MIFTS: 22

Trichodontoosseous Syndrome

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

Aliases & Classifications for Trichodontoosseous Syndrome

MalaCards integrated aliases for Trichodontoosseous Syndrome:

Name: Trichodontoosseous Syndrome 54 24 13
Tdo Syndrome 56 71 52
Tricho-Dento-Osseous Syndrome 56 69
Trichodentoosseous Syndrome 71
Tdo 71

Characteristics:

Orphanet epidemiological data:

56
tricho-dento-osseous syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
trichodontoosseous syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 190320
Orphanet 56 ORPHA3352
MESH via Orphanet 43 C536549
UMLS via Orphanet 70 C0265333
ICD10 via Orphanet 34 Q82.4
MedGen 40 C0265333

Summaries for Trichodontoosseous Syndrome

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Trichodontoosseous Syndrome, also known as tdo syndrome, is related to tricho-dento-osseous syndrome and tricho-dento-osseous syndrome 1, and has symptoms including frontal bossing, fragile nails and widely spaced teeth. An important gene associated with Trichodontoosseous Syndrome is DLX3 (Distal-Less Homeobox 3). Affiliated tissues include bone and skin.

OMIM : 54
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)

Related Diseases for Trichodontoosseous Syndrome

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

id Related Disease Score Top Affiliating Genes
1 tricho-dento-osseous syndrome 12.7
2 tricho-dento-osseous syndrome 1 12.3
3 taurodontism 10.3
4 amelogenesis imperfecta 10.3
5 osteogenesis imperfecta 10.2
6 melorheostosis 10.2
7 intellectual disability 10.2

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



Diseases related to Trichodontoosseous Syndrome

Symptoms & Phenotypes for Trichodontoosseous Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
frontal bossing

Head And Neck- Head:
dolichocephaly

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

Skin Nails & Hair- Hair:
kinky hair

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

Skin Nails & Hair- Nails:
brittle nails

Skeletal- Skull:
obliteration of calvarial diploe
poorly pneumatized mastoids


Clinical features from OMIM:

190320

Human phenotypes related to Trichodontoosseous Syndrome:

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

Drugs & Therapeutics for Trichodontoosseous Syndrome

Search Clinical Trials , NIH Clinical Center for Trichodontoosseous Syndrome

Genetic Tests for Trichodontoosseous Syndrome

Genetic tests related to Trichodontoosseous Syndrome:

id Genetic test Affiliating Genes
1 Trichodontoosseous Syndrome 24 DLX3

Anatomical Context for Trichodontoosseous Syndrome

MalaCards organs/tissues related to Trichodontoosseous Syndrome:

39
Bone, Skin

Publications for Trichodontoosseous Syndrome

Variations for Trichodontoosseous Syndrome

ClinVar genetic disease variations for Trichodontoosseous Syndrome:

6
id 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.561_562delCT (p.Tyr188Glnfs) deletion Pathogenic rs387906406 GRCh37 Chromosome 17, 48069183: 48069184

Expression for Trichodontoosseous Syndrome

Search GEO for disease gene expression data for Trichodontoosseous Syndrome.

Pathways for Trichodontoosseous Syndrome

GO Terms for Trichodontoosseous Syndrome

Sources for Trichodontoosseous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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