MCID: TRC114
MIFTS: 17

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 58
Trichodental Syndrome 60 74
Kersey Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
trichodental syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
trichodental dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 601453
MESH via Orphanet 46 C536551
UMLS via Orphanet 75 C0406724
Orphanet 60 ORPHA3351
MedGen 43 C0406724
UMLS 74 C0406724

Summaries for Trichodental Dysplasia

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

Description from OMIM: 601453

Related Diseases for Trichodental Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 trichodental syndrome 11.6
2 pilodental dysplasia with refractive errors 11.4
3 microcephaly 10.2

Symptoms & Phenotypes for Trichodental Dysplasia

Human phenotypes related to Trichodental Dysplasia:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 HP:0000252
2 fine hair 33 HP:0002213
3 hypodontia 33 HP:0000668
4 sparse hair 33 HP:0008070
5 slow-growing hair 33 HP:0002217
6 conical tooth 33 HP:0000698
7 brittle hair 33 HP:0002299
8 shell teeth 33 HP:0000694

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Trichodental Dysplasia

MalaCards organs/tissues related to Trichodental Dysplasia:

42
Skin

Publications for Trichodental Dysplasia

Articles related to Trichodental Dysplasia:

# Title Authors Year
1
Trichodental dysplasia: a rare syndrome with distinct dental findings. ( 16903444 )
2006
2
Sporadic trichodental dysplasia with microcephaly and mental retardation. ( 8574424 )
1995

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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