MCID: WTS001
MIFTS: 25

Watson Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Watson Syndrome

MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 53 72 49 71 13 51
Pulmonic Stenosis with Cafe-Au-Lait Spots 53 49
Cafe-Au-Lait Spots with Pulmonic Stenosis 53 49
Wtsn 53 71
Cafe-Au-Lait Macules with Pulmonary Stenosis 69
Café-Au-Lait Macules with Pulmonary Stenosis 28
Pulmonary Stenosis with Cafe-Au-Lait Spots 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )


HPO:

31
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 193520
MedGen 39 C0553586
MeSH 41 D009456
UMLS 69 C0553586

Summaries for Watson Syndrome

NIH Rare Diseases : 49 Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQ test scores for individuals with Watson syndrome can range between 60-100. Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exact cause of this condition is unknown. The condition is inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. Last updated: 4/2/2013

MalaCards based summary : Watson Syndrome, also known as pulmonic stenosis with cafe-au-lait spots, is related to alagille syndrome 1 and alagille syndrome 2, and has symptoms including short stature, abnormality of the cardiovascular system and multiple cafe-au-lait spots. An important gene associated with Watson Syndrome is NF1 (Neurofibromin 1). Affiliated tissues include testes.

OMIM : 53 Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). (193520)

UniProtKB/Swiss-Prot : 71 Watson syndrome: A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.

Wikipedia : 72 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Related Diseases for Watson Syndrome

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

# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 11.4
2 alagille syndrome 2 11.4
3 neurofibromatosis-noonan syndrome 11.0
4 neurofibromatosis, type iv, of riccardi 9.9
5 arteries, anomalies of 9.8
6 noonan syndrome 1 9.8
7 coronary artery anomaly 9.8
8 pseudo-turner syndrome 9.8
9 aneurysm 9.8

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



Diseases related to Watson Syndrome

Symptoms & Phenotypes for Watson Syndrome

Symptoms via clinical synopsis from OMIM:

53
GrowthHeight:
short stature

HeadAndNeckEyes:
lisch nodules

SkinNailsHairSkin:
multiple cafe-au-lait spots
neurofibromas
axillary freckling

HeadAndNeckHead:
relative macrocephaly

CardiovascularHeart:
pulmonary valvular stenosis

NeurologicCentralNervousSystem:
low iq


Clinical features from OMIM:

193520

Human phenotypes related to Watson Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 abnormality of the cardiovascular system 31 HP:0001626
3 multiple cafe-au-lait spots 31 HP:0007565
4 relative macrocephaly 31 HP:0004482
5 neurofibromas 31 HP:0001067
6 axillary freckling 31 HP:0000997
7 lisch nodules 31 HP:0009737

Drugs & Therapeutics for Watson Syndrome

Search Clinical Trials , NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

Genetic tests related to Watson Syndrome:

# Genetic test Affiliating Genes
1 Café-Au-Lait Macules with Pulmonary Stenosis 28 NF1

Anatomical Context for Watson Syndrome

MalaCards organs/tissues related to Watson Syndrome:

38
Testes

Publications for Watson Syndrome

Articles related to Watson Syndrome:

# Title Authors Year
1
Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. ( 16863806 )
2006
2
Evidence of central nervous system involvement in Watson syndrome. ( 7619195 )
1995
3
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. ( 7877009 )
1994
4
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. ( 8317503 )
1993
5
Watson syndrome: is it a subtype of type 1 neurofibromatosis? ( 1770531 )
1991

Variations for Watson Syndrome

ClinVar genetic disease variations for Watson Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
2 NF1 NF1, 42-BP DUP duplication Pathogenic
3 NF1 NF1, 80-KB DEL deletion Pathogenic
4 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974

Expression for Watson Syndrome

Search GEO for disease gene expression data for Watson Syndrome.

Pathways for Watson Syndrome

GO Terms for Watson Syndrome

Sources for Watson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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