MCID: ECT063
MIFTS: 31

Ectodermal Dysplasia 3, Witkop Type

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

Aliases & Classifications for Ectodermal Dysplasia 3, Witkop Type

MalaCards integrated aliases for Ectodermal Dysplasia 3, Witkop Type:

Name: Ectodermal Dysplasia 3, Witkop Type 54 71 13
Witkop Syndrome 50 24 56 71 42
Tooth and Nail Syndrome 12 50 56 14
Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 12 29 69
Tns 50 24 71
Dysplasia of Nails with Hypodontia 50 71
Tooth-and-Nail Syndrome 24 71
Ectodermal Dysplasia 3, Tooth/nail Type 71
Hypodontia-Dysplasia of Nails Syndrome 56
Hypodontia-Nail Dysgenesis Syndrome 56
Hypodontia - Dysplasia of Nails 50
Nail Dysplasia with Hypodontia 24
Hypodontia-Nail Dysgenesis 71
Witkop's Syndrome 12
Ectd3 71

Characteristics:

Orphanet epidemiological data:

56
hypodontia-dysplasia of nails syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
estimated incidence of 1-2 in 10,000
normal ability to tolerate heat
thin, fine hair described in few individuals


HPO:

32
ectodermal dysplasia 3, witkop type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 189500
Disease Ontology 12 DOID:6678
NCIt 47 C40553
Orphanet 56 ORPHA2228
UMLS via Orphanet 70 C0406716 C0406735
ICD10 via Orphanet 34 Q82.4
MedGen 40 C0406735
UMLS 69 C0406735

Summaries for Ectodermal Dysplasia 3, Witkop Type

OMIM : 54
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001). (189500)

MalaCards based summary : Ectodermal Dysplasia 3, Witkop Type, also known as witkop syndrome, is related to tn polyagglutination syndrome, somatic and trigeminal neuralgia, and has symptoms including hypoplastic toenails, hypodontia and fragile nails. An important gene associated with Ectodermal Dysplasia 3, Witkop Type is MSX1 (Msh Homeobox 1). Affiliated tissues include skin and ovary.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on ectodermal dysplasia.

UniProtKB/Swiss-Prot : 71 Ectodermal dysplasia 3, Witkop type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.

Disease Ontology : 12 A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.

Related Diseases for Ectodermal Dysplasia 3, Witkop Type

Diseases related to Ectodermal Dysplasia 3, Witkop Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 tn polyagglutination syndrome, somatic 12.3
2 trigeminal neuralgia 11.3
3 ectodermal dysplasia 8, hair/tooth/nail type 10.9
4 thoracic outlet syndrome 10.8
5 breast cancer 10.1
6 colorectal cancer 10.0
7 prostatitis 9.8
8 hepatocellular carcinoma 9.8
9 cervicitis 9.8
10 adenocarcinoma 9.8
11 mucoepidermoid carcinoma 9.6
12 biliary papillomatosis 9.6
13 colorectal adenoma 9.6
14 adenoma 9.6
15 keratopathy 9.6
16 bacterial meningitis 9.6
17 leukemia 9.6
18 meningitis 9.6
19 oral squamous cell carcinoma 9.6
20 stomach cancer 9.6
21 bullous keratopathy 9.6
22 generalized anxiety disorder 9.6
23 myocardial infarction 9.6
24 squamous cell carcinoma 9.6
25 prostate cancer 9.6
26 anxiety disorder 9.6
27 colon adenocarcinoma 9.6
28 myelodysplastic syndrome 9.6

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 3, Witkop Type:



Diseases related to Ectodermal Dysplasia 3, Witkop Type

Symptoms & Phenotypes for Ectodermal Dysplasia 3, Witkop Type

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
normal hair

Head And Neck- Face:
normal facies

Head And Neck- Mouth:
lip eversion

Skin Nails & Hair- Nails:
longitudinal ridging
nail pits
koilonychia
thin, small friable nails
toenails often more affected than fingernails
more
Skin Nails & Hair- Skin:
normal sweat glands

Head And Neck- Teeth:
normal to small primary teeth
partial to total absence of permanent teeth


Clinical features from OMIM:

189500

Human phenotypes related to Ectodermal Dysplasia 3, Witkop Type:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic toenails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001800
2 hypodontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000668
3 fragile nails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001808
4 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
5 polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0000147
6 delayed eruption of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000684
7 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
8 hypoplastic fingernail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001804
9 ridged fingernail 56 32 hallmark (90%) Very frequent (99-80%) HP:0008402
10 conical tooth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000698
11 agenesis of permanent teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006349
12 thin toenail 56 32 hallmark (90%) Very frequent (99-80%) HP:0012746
13 sparse hair 32 HP:0008070
14 microdontia of primary teeth 32 HP:0006347
15 nail pits 32 HP:0001803
16 abnormality of the teeth 56 Very frequent (99-80%)
17 abnormality of the nail 56 Very frequent (99-80%)
18 abnormality of the fingernails 56 Very frequent (99-80%)
19 small nail 32 HP:0001792
20 abnormality of dental morphology 56 Very frequent (99-80%)
21 ridged nail 32 HP:0001807
22 concave nail 32 HP:0001598

UMLS symptoms related to Ectodermal Dysplasia 3, Witkop Type:


koilonychia

Drugs & Therapeutics for Ectodermal Dysplasia 3, Witkop Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 3, Witkop Type

Cochrane evidence based reviews: witkop syndrome

Genetic Tests for Ectodermal Dysplasia 3, Witkop Type

Genetic tests related to Ectodermal Dysplasia 3, Witkop Type:

id Genetic test Affiliating Genes
1 Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 29
2 Witkop Syndrome 24 MSX1

Anatomical Context for Ectodermal Dysplasia 3, Witkop Type

MalaCards organs/tissues related to Ectodermal Dysplasia 3, Witkop Type:

39
Skin, Ovary

Publications for Ectodermal Dysplasia 3, Witkop Type

Variations for Ectodermal Dysplasia 3, Witkop Type

ClinVar genetic disease variations for Ectodermal Dysplasia 3, Witkop Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MSX1 NM_002448.3(MSX1): c.623C> A (p.Ser208Ter) single nucleotide variant Pathogenic rs104893853 GRCh37 Chromosome 4, 4864581: 4864581

Expression for Ectodermal Dysplasia 3, Witkop Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 3, Witkop Type.

Pathways for Ectodermal Dysplasia 3, Witkop Type

GO Terms for Ectodermal Dysplasia 3, Witkop Type

Sources for Ectodermal Dysplasia 3, Witkop Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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