MCID: DRM023
MIFTS: 21

Dermoodontodysplasia

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

Aliases & Classifications for Dermoodontodysplasia

MalaCards integrated aliases for Dermoodontodysplasia:

Name: Dermoodontodysplasia 57 76 53 59 73
Ectodermal Dysplasia, Hair-Nail-Tooth Type 57
Dermo-Odonto-Dysplasia 53

Characteristics:

Orphanet epidemiological data:

59
dermoodontodysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
dermoodontodysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125640
Orphanet 59 ORPHA1660
UMLS via Orphanet 74 C1852144
ICD10 via Orphanet 34 Q82.4
MedGen 42 C1852144
UMLS 73 C1852144

Summaries for Dermoodontodysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1660Disease definitionDermo-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. An important gene associated with Dermoodontodysplasia is ECTD8 (Ectodermal Dysplasia 8, Hair/Tooth/Nail Type). Affiliated tissues include skin, and related phenotypes are ptosis and mandibular prognathia

Wikipedia : 76 Dermoodontodysplasia is dental problems, trichodysplasia, and nail and skin... more...

Description 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 9.9

Symptoms & Phenotypes for Dermoodontodysplasia

Symptoms via clinical synopsis from OMIM:

57
Hair:
trichodysplasia

Skin:
mild variable ectodermal dysplasia

Teeth:
dental anomalies

Nails:
onychodysplasia


Clinical features from OMIM:

125640

Human phenotypes related to Dermoodontodysplasia:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
3 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
4 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
5 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
6 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
7 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
8 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
9 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
10 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
11 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
12 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
13 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
14 trichodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002552
15 ectodermal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000968
16 abnormality of the dentition 32 HP:0000164
17 abnormality of the eyelid 59 Frequent (79-30%)
18 nail dysplasia 32 HP:0002164
19 abnormal eyelid morphology 32 frequent (33%) HP:0000492

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:

41
Skin

Publications for Dermoodontodysplasia

Articles related to Dermoodontodysplasia:

# Title Authors Year
1
New cases of dermoodontodysplasia? ( 2368802 )
1990
2
Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia. ( 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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