MCID: DRM023
MIFTS: 21

Dermoodontodysplasia

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

Aliases & Classifications for Dermoodontodysplasia

MalaCards integrated aliases for Dermoodontodysplasia:

Name: Dermoodontodysplasia 56 74 52 58 71
Ectodermal Dysplasia, Hair-Nail-Tooth Type 56
Dermo-Odonto-Dysplasia 52

Characteristics:

Orphanet epidemiological data:

58
dermoodontodysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
dermoodontodysplasia:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM 56 125640
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C1852144
Orphanet 58 ORPHA1660
MedGen 41 C1852144
UMLS 71 C1852144

Summaries for Dermoodontodysplasia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1660 Definition Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. Visit the Orphanet disease page for more resources.

MalaCards based summary : Dermoodontodysplasia, also known as ectodermal dysplasia, hair-nail-tooth type, is related to ectodermal dysplasia and pinheiro freire-maia miranda syndrome. An important gene associated with Dermoodontodysplasia is ECTD8 (Ectodermal Dysplasia 8, Hair/Tooth/Nail Type). Affiliated tissues include skin, and related phenotypes are microdontia and sparse scalp hair

Wikipedia : 74 Dermoodontodysplasia is dental problems, trichodysplasia, and nail and skin... more...

More information from OMIM: 125640

Related Diseases for Dermoodontodysplasia

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

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.2
2 pinheiro freire-maia miranda syndrome 10.2

Symptoms & Phenotypes for Dermoodontodysplasia

Human phenotypes related to Dermoodontodysplasia:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
2 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
3 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 fingernail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100798
6 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
7 toenail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100797
8 trichodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002552
9 ectodermal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000968
10 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
11 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
12 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
13 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
14 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
15 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
16 abnormal eyelid morphology 31 frequent (33%) HP:0000492
17 abnormality of the eyelid 58 Frequent (79-30%)
18 hypodontia 31 HP:0000668
19 nail dysplasia 31 HP:0002164

Symptoms via clinical synopsis from OMIM:

56
Hair:
trichodysplasia

Skin:
mild variable ectodermal dysplasia

Teeth:
dental anomalies

Nails:
onychodysplasia

Clinical features from OMIM:

125640

Drugs & Therapeutics for Dermoodontodysplasia

Search Clinical Trials , NIH Clinical Center for Dermoodontodysplasia

Genetic Tests for Dermoodontodysplasia

Anatomical Context for Dermoodontodysplasia

MalaCards organs/tissues related to Dermoodontodysplasia:

40
Skin

Publications for Dermoodontodysplasia

Articles related to Dermoodontodysplasia:

# Title Authors PMID Year
1
New cases of dermoodontodysplasia? 56 61
2368802 1990
2
Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. 56 61
6616948 1983

Variations for Dermoodontodysplasia

Expression for Dermoodontodysplasia

Search GEO for disease gene expression data for Dermoodontodysplasia.

Pathways for Dermoodontodysplasia

GO Terms for Dermoodontodysplasia

Sources for Dermoodontodysplasia

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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