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 57
Trichodental Syndrome 59 72
Kersey Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
trichodental syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
trichodental dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601453
MESH via Orphanet 45 C536551
UMLS via Orphanet 73 C0406724
Orphanet 59 ORPHA3351
MedGen 42 C0406724
UMLS 72 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

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:

# Related Disease Score Top Affiliating Genes
1 trichodental syndrome 11.7
2 pilodental dysplasia with refractive errors 11.5
3 ectodermal dysplasia 10.4
4 microcephaly 10.2

Symptoms & Phenotypes for Trichodental Dysplasia

Human phenotypes related to Trichodental Dysplasia:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 fine hair 32 HP:0002213
3 hypodontia 32 HP:0000668
4 sparse hair 32 HP:0008070
5 slow-growing hair 32 HP:0002217
6 conical tooth 32 HP:0000698
7 brittle hair 32 HP:0002299
8 shell teeth 32 HP:0000694

Symptoms via clinical synopsis from OMIM:

57
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:

41
Skin

Publications for Trichodental Dysplasia

Articles related to Trichodental Dysplasia:

# Title Authors PMID Year
1
Sporadic trichodental dysplasia with microcephaly and mental retardation. 38 8
8574424 1995
2
Tricho-dental syndrome: a disorder with a short hair cycle. 8
3828219 1987
3
Trichodental dysplasia: a rare syndrome with distinct dental findings. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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