ECTD3
MCID: ECT063
MIFTS: 30

Ectodermal Dysplasia 3, Witkop Type (ECTD3) malady

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

Aliases & Classifications for Ectodermal Dysplasia 3, Witkop Type

Aliases & Descriptions for Ectodermal Dysplasia 3, Witkop Type:

Name: Ectodermal Dysplasia 3, Witkop Type 54 66 13
Witkop Syndrome 54 50 24 56 66 42
Tooth and Nail Syndrome 12 50 56 14
Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 12 29 69
Tns 50 24 66
Dysplasia of Nails with Hypodontia 50 66
Tooth-and-Nail Syndrome 24 66
Ectodermal Dysplasia 3, Tooth/nail Type 66
Hypodontia-Dysplasia of Nails Syndrome 56
Hypodontia-Nail Dysgenesis Syndrome 56
Hypodontia - Dysplasia of Nails 50
Nail Dysplasia with Hypodontia 24
Hypodontia-Nail Dysgenesis 66
Witkop's Syndrome 12
Ectd3 66

Characteristics:

Orphanet epidemiological data:

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

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
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 70 C0406716
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... (189500) more...

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 delayed eruption of teeth, everted lower lip vermilion and hypoplastic toenails. An important gene associated with Ectodermal Dysplasia 3, Witkop Type is MSX1 (Msh Homeobox 1). Affiliated tissues include skin and ovary.

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.

UniProtKB/Swiss-Prot : 66 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.

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 27)
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 breast cancer 10.1
5 colorectal cancer 10.0
6 gastric cancer 9.9
7 prostatitis 9.8
8 hepatocellular carcinoma 9.8
9 cervicitis 9.8
10 adenocarcinoma 9.8
11 keratopathy 9.6
12 leukemia 9.6
13 oral squamous cell carcinoma 9.6
14 bullous keratopathy 9.6
15 generalized anxiety disorder 9.6
16 myocardial infarction 9.6
17 squamous cell carcinoma 9.6
18 prostate cancer 9.6
19 anxiety disorder 9.6
20 colon adenocarcinoma 9.6
21 ovarian cancer 9.6
22 myelodysplastic syndrome 9.6
23 biliary papillomatosis 9.6
24 adenoma 9.6
25 colorectal adenoma 9.6
26 bacterial meningitis 9.6
27 meningitis 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 by clinical synopsis from OMIM:

189500

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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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