MCID: ECT087
MIFTS: 16

Ectodermal Dysplasia, Trichoodontoonychial Type

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

Aliases & Classifications for Ectodermal Dysplasia, Trichoodontoonychial Type

MalaCards integrated aliases for Ectodermal Dysplasia, Trichoodontoonychial Type:

Name: Ectodermal Dysplasia, Trichoodontoonychial Type 56 58
Ectodermal Dysplasia Trichoodontoonychial Type 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ectodermal dysplasia, trichoodontoonychial type:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM 56 129510
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C1851858
Orphanet 58 ORPHA1818
MedGen 41 C1851858

Summaries for Ectodermal Dysplasia, Trichoodontoonychial Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1818 Definition Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia, Trichoodontoonychial Type, is also known as ectodermal dysplasia trichoodontoonychial type. Affiliated tissues include skin, and related phenotypes are lipoatrophy and hypotrichosis

More information from OMIM: 129510

Related Diseases for Ectodermal Dysplasia, Trichoodontoonychial Type

Symptoms & Phenotypes for Ectodermal Dysplasia, Trichoodontoonychial Type

Human phenotypes related to Ectodermal Dysplasia, Trichoodontoonychial Type:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
2 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
3 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
4 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
5 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
6 abnormality of the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000366
7 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
8 irregular hyperpigmentation of back 58 31 hallmark (90%) Very frequent (99-80%) HP:0007521
9 aplasia/hypoplasia of the nipples 58 31 frequent (33%) Frequent (79-30%) HP:0006709
10 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
11 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
12 abnormal eyelash morphology 31 frequent (33%) HP:0000499
13 abnormality of the thorax 31 HP:0000765
14 abnormality of the eyelashes 58 Frequent (79-30%)
15 absent nipple 31 HP:0002561
16 ectodermal dysplasia 31 HP:0000968
17 mild neurosensory hearing impairment 31 HP:0008587

Symptoms via clinical synopsis from OMIM:

56
Hair:
hypotrichosis

Skin:
ectodermal dysplasia
irregular hyperpigmentation of back
normal sweating
focal linear dermal hypoplasia of nasal tip

Ears:
mild neurosensory hearing loss

Teeth:
hypodontia

Thorax:
amastia
athelia

Clinical features from OMIM:

129510

Drugs & Therapeutics for Ectodermal Dysplasia, Trichoodontoonychial Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia, Trichoodontoonychial Type

Genetic Tests for Ectodermal Dysplasia, Trichoodontoonychial Type

Anatomical Context for Ectodermal Dysplasia, Trichoodontoonychial Type

MalaCards organs/tissues related to Ectodermal Dysplasia, Trichoodontoonychial Type:

40
Skin

Publications for Ectodermal Dysplasia, Trichoodontoonychial Type

Articles related to Ectodermal Dysplasia, Trichoodontoonychial Type:

# Title Authors PMID Year
1
On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members. 56
8929951 1996
2
A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family. 56
3740884 1986

Variations for Ectodermal Dysplasia, Trichoodontoonychial Type

Expression for Ectodermal Dysplasia, Trichoodontoonychial Type

Search GEO for disease gene expression data for Ectodermal Dysplasia, Trichoodontoonychial Type.

Pathways for Ectodermal Dysplasia, Trichoodontoonychial Type

GO Terms for Ectodermal Dysplasia, Trichoodontoonychial Type

Sources for Ectodermal Dysplasia, Trichoodontoonychial Type

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
Content
Loading form....