MCID: WTK002
MIFTS: 32

Witkop Syndrome

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

Aliases & Classifications for Witkop Syndrome

MalaCards integrated aliases for Witkop Syndrome:

Name: Witkop Syndrome 57 76 53 59 75 44
Tooth and Nail Syndrome 12 53 59 37 15
Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 12 29 6 73
Ectodermal Dysplasia 3, Witkop Type 57 75 13
Tns 57 53 75
Ectodermal Dysplasia 3, Tooth/nail Type 57 75
Dysplasia of Nails with Hypodontia 53 75
Tooth-and-Nail Syndrome 57 75
Ectd3 57 75
Ectodermal Dysplasia 3, Witkop Type; Ectd3 57
Hypodontia-Dysplasia of Nails Syndrome 59
Hypodontia-Nail Dysgenesis Syndrome 59
Hypodontia - Dysplasia of Nails 53
Nail Dysplasia with Hypodontia 57
Tooth-and-Nail Syndrome; Tns 57
Hypodontia-Nail Dysgenesis 75
Witkop's Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
hypodontia-dysplasia of nails syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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
witkop syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 189500
Disease Ontology 12 DOID:6678
NCIt 50 C40553
Orphanet 59 ORPHA2228
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 74 C0406716 C0406735
MedGen 42 C0406735
KEGG 37 H00643
UMLS 73 C0406735

Summaries for Witkop Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2228Disease definitionHypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.EpidemiologyIts incidence has been estimated at around 1-2 in 10,000.Clinical descriptionThe primary teeth are usually normal but the permanent teeth often fail to erupt. The mandibular incisors, second molars, and maxillary canines are frequently absent and the crowns may be small and conical. Lip eversion may be present. Nails are usually small, thin and brittle with longitudinal ridges, pitting and koilonychias. Congenital absence of the nail plate has also been reported. Toenails are usually more severely affected than fingernails. Sweat glands, heat tolerance and hair are normal, although fine hair has been described in some cases.EtiologyThe syndrome is caused by a mutation in the MSX1 gene (4p16.1).Diagnostic methodsDiagnosis is usually made during mid-childhood when persistence of the primary dentition becomes apparent, but the syndrome may be difficult to diagnose as the nail defects may be mild.Differential diagnosisThe differential diagnosis should include other forms of ectodermal dysplasia, in particular hypohidrotic ectodermal dysplasia (see these terms).Genetic counselingTransmission is autosomal dominant.Management and treatmentThere is no specific treatment but oral health care and dental management are recommended.PrognosisThe prognosis is good. The nail defects usually become less apparent with age and the nails often appear normal by adulthood.Visit the Orphanet disease page for more resources.

MalaCards based summary : Witkop Syndrome, also known as tooth and nail syndrome, is related to tn polyagglutination syndrome and trigeminal neuralgia, and has symptoms including koilonychia An important gene associated with Witkop Syndrome is MSX1 (Msh Homeobox 1). Affiliated tissues include skin and ovary, and related phenotypes are delayed eruption of teeth and everted lower lip vermilion

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Tooth and nail syndrome (also known as \"Hypodontia with nail dysgenesis,\" and \"Witkop syndrome\") is... more...

Related Diseases for Witkop Syndrome

Graphical network of the top 20 diseases related to Witkop Syndrome:



Diseases related to Witkop Syndrome

Symptoms & Phenotypes for Witkop Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
nail pits
longitudinal ridging
koilonychia
thin, small friable nails
toenails often more affected than fingernails
more
Head And Neck Face:
normal facies

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

Skin Nails Hair Hair:
normal hair

Head And Neck Mouth:
lip eversion

Skin Nails Hair Skin:
normal sweat glands


Clinical features from OMIM:

189500

Human phenotypes related to Witkop Syndrome:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
2 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
3 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
4 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
5 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
6 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
7 hypoplastic fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001804
8 ridged fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0008402
9 fragile nails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001808
10 conical tooth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000698
11 agenesis of permanent teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006349
12 thin toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0012746
13 abnormality of the dentition 59 Very frequent (99-80%)
14 abnormality of the nail 59 Very frequent (99-80%)
15 abnormality of the fingernails 59 Very frequent (99-80%)
16 small nail 32 HP:0001792
17 abnormality of dental morphology 59 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 Witkop Syndrome:


koilonychia

Drugs & Therapeutics for Witkop Syndrome

Search Clinical Trials , NIH Clinical Center for Witkop Syndrome

Cochrane evidence based reviews: witkop syndrome

Genetic Tests for Witkop Syndrome

Genetic tests related to Witkop Syndrome:

# Genetic test Affiliating Genes
1 Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 29 MSX1

Anatomical Context for Witkop Syndrome

MalaCards organs/tissues related to Witkop Syndrome:

41
Skin, Ovary

Publications for Witkop Syndrome

Articles related to Witkop Syndrome:

# Title Authors Year
1
MSX1 mutation in witkop syndrome; a case report. ( 24031111 )
2013
2
Witkop syndrome: A case report of an affected family. ( 22747926 )
2012
3
Dental implications of Tooth-Nail dysplasia (Witkop syndrome): a report of an affected family and an approach to dental management. ( 14969367 )
2004
4
A nonsense mutation in MSX1 causes Witkop syndrome. ( 11369996 )
2001

Variations for Witkop Syndrome

ClinVar genetic disease variations for Witkop Syndrome:

6
(show all 22)
# 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
2 MSX1 NM_002448.3(MSX1): c.623C> A (p.Ser208Ter) single nucleotide variant Pathogenic rs104893853 GRCh38 Chromosome 4, 4862854: 4862854
3 MSX1 NM_002448.3(MSX1): c.123C> A (p.Ala41=) single nucleotide variant Likely benign rs1001828551 GRCh37 Chromosome 4, 4861749: 4861749
4 MSX1 NM_002448.3(MSX1): c.123C> A (p.Ala41=) single nucleotide variant Likely benign rs1001828551 GRCh38 Chromosome 4, 4860022: 4860022
5 MSX1 NM_002448.3(MSX1): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs28933081 GRCh38 Chromosome 4, 4860264: 4860264
6 MSX1 NM_002448.3(MSX1): c.365G> T (p.Gly122Val) single nucleotide variant Uncertain significance rs28933081 GRCh37 Chromosome 4, 4861991: 4861991
7 MSX1 NM_002448.3(MSX1): c.86C> T (p.Ala29Val) single nucleotide variant Benign rs530217423 GRCh38 Chromosome 4, 4859985: 4859985
8 MSX1 NM_002448.3(MSX1): c.86C> T (p.Ala29Val) single nucleotide variant Benign rs530217423 GRCh37 Chromosome 4, 4861712: 4861712
9 MSX1 NM_002448.3(MSX1): c.324G> T (p.Ala108=) single nucleotide variant Likely benign rs574606351 GRCh38 Chromosome 4, 4860223: 4860223
10 MSX1 NM_002448.3(MSX1): c.324G> T (p.Ala108=) single nucleotide variant Likely benign rs574606351 GRCh37 Chromosome 4, 4861950: 4861950
11 MSX1 NM_002448.3(MSX1): c.561G> A (p.Leu187=) single nucleotide variant Benign rs149960650 GRCh37 Chromosome 4, 4864519: 4864519
12 MSX1 NM_002448.3(MSX1): c.561G> A (p.Leu187=) single nucleotide variant Benign rs149960650 GRCh38 Chromosome 4, 4862792: 4862792
13 MSX1 NM_002448.3(MSX1): c.89G> C (p.Gly30Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 4859988: 4859988
14 MSX1 NM_002448.3(MSX1): c.89G> C (p.Gly30Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 4861715: 4861715
15 MSX1 NM_002448.3(MSX1): c.127A> C (p.Met43Leu) single nucleotide variant Benign rs565664559 GRCh38 Chromosome 4, 4860026: 4860026
16 MSX1 NM_002448.3(MSX1): c.127A> C (p.Met43Leu) single nucleotide variant Benign rs565664559 GRCh37 Chromosome 4, 4861753: 4861753
17 MSX1 NM_002448.3(MSX1): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 4862892: 4862892
18 MSX1 NM_002448.3(MSX1): c.661C> T (p.Gln221Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 4864619: 4864619
19 MSX1 NM_002448.3(MSX1): c.752_753delTCinsAA (p.Phe251Ter) indel Uncertain significance GRCh38 Chromosome 4, 4862983: 4862984
20 MSX1 NM_002448.3(MSX1): c.752_753delTCinsAA (p.Phe251Ter) indel Uncertain significance GRCh37 Chromosome 4, 4864710: 4864711
21 MSX1 NM_002448.3(MSX1): c.*276A> G single nucleotide variant Benign rs12532 GRCh37 Chromosome 4, 4865146: 4865146
22 MSX1 NM_002448.3(MSX1): c.*276A> G single nucleotide variant Benign rs12532 GRCh38 Chromosome 4, 4863419: 4863419

Expression for Witkop Syndrome

Search GEO for disease gene expression data for Witkop Syndrome.

Pathways for Witkop Syndrome

GO Terms for Witkop Syndrome

Sources for Witkop Syndrome

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
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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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