MCID: ECT087
MIFTS: 15

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 58 60
Ectodermal Dysplasia Trichoodontoonychial Type 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ectodermal dysplasia, trichoodontoonychial type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 129510
ICD10 via Orphanet 35 Q82.4
UMLS via Orphanet 75 C1851858
Orphanet 60 ORPHA1818
MedGen 43 C1851858

Summaries for Ectodermal Dysplasia, Trichoodontoonychial Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1818Disease definitionEctodermal 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

Description 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:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
2 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
3 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
4 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
5 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
6 abnormality of the nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000366
7 abnormal toenail morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0008388
8 irregular hyperpigmentation of back 60 33 hallmark (90%) Very frequent (99-80%) HP:0007521
9 aplasia/hypoplasia of the nipples 60 33 frequent (33%) Frequent (79-30%) HP:0006709
10 melanocytic nevus 60 33 frequent (33%) Frequent (79-30%) HP:0000995
11 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
12 abnormal eyelash morphology 33 frequent (33%) HP:0000499
13 abnormality of the thorax 33 HP:0000765
14 abnormality of the eyelashes 60 Frequent (79-30%)
15 absent nipple 33 HP:0002561
16 ectodermal dysplasia 33 HP:0000968
17 mild neurosensory hearing impairment 33 HP:0008587

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Ectodermal Dysplasia, Trichoodontoonychial Type

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
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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