MCID: TRC114
MIFTS: 20

Trichodental Dysplasia

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

Aliases & Classifications for Trichodental Dysplasia

MalaCards integrated aliases for Trichodental Dysplasia:

Name: Trichodental Dysplasia 56 52
Trichodental Syndrome 52 58 29 71
Tricho-Dental Dysplasia 52
Tricho-Dental Syndrome 52
Kersey Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
trichodental syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
trichodental dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 601453
MESH via Orphanet 44 C536551
UMLS via Orphanet 72 C0406724
Orphanet 58 ORPHA3351
MedGen 41 C0406724
UMLS 71 C0406724

Summaries for Trichodental Dysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3351 Definition Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Trichodental Dysplasia, also known as trichodental syndrome, is related to pilodental dysplasia with refractive errors and ectodermal dysplasia. Affiliated tissues include skin, and related phenotypes are microcephaly and fine hair

More information from OMIM: 601453

Related Diseases for Trichodental Dysplasia

Diseases related to Trichodental Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 pilodental dysplasia with refractive errors 11.5
2 ectodermal dysplasia 10.4
3 microcephaly 10.3

Symptoms & Phenotypes for Trichodental Dysplasia

Human phenotypes related to Trichodental Dysplasia:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 fine hair 31 HP:0002213
3 hypodontia 31 HP:0000668
4 sparse hair 31 HP:0008070
5 slow-growing hair 31 HP:0002217
6 conical tooth 31 HP:0000698
7 brittle hair 31 HP:0002299
8 shell teeth 31 HP:0000694

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
hypodontia
shell teeth
peg-shaped teeth

Head And Neck Head:
microcephaly, borderline (3rd percentile)

Skin Nails Hair Hair:
slow-growing hair
brittle hair
sparse, fine hair
absent cuticular scale
narrow hair shaft
more

Clinical features from OMIM:

601453

Drugs & Therapeutics for Trichodental Dysplasia

Search Clinical Trials , NIH Clinical Center for Trichodental Dysplasia

Genetic Tests for Trichodental Dysplasia

Genetic tests related to Trichodental Dysplasia:

# Genetic test Affiliating Genes
1 Trichodental Syndrome 29

Anatomical Context for Trichodental Dysplasia

MalaCards organs/tissues related to Trichodental Dysplasia:

40
Skin

Publications for Trichodental Dysplasia

Articles related to Trichodental Dysplasia:

(showing 3, show less)
# Title Authors PMID Year
1
Sporadic trichodental dysplasia with microcephaly and mental retardation. 56 61
8574424 1995
2
Tricho-dental syndrome: a disorder with a short hair cycle. 56
3828219 1987
3
Trichodental dysplasia: a rare syndrome with distinct dental findings. 61
16903444 2006

Variations for Trichodental Dysplasia

Expression for Trichodental Dysplasia

Search GEO for disease gene expression data for Trichodental Dysplasia.

Pathways for Trichodental Dysplasia

GO Terms for Trichodental Dysplasia

Sources for Trichodental Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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