MCID: WTS001
MIFTS: 21

Watson Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Watson Syndrome

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Watson Syndrome, also known as cafe-au-lait macules with pulmonary stenosis, is related to alagille syndrome and neurofibromatosis. An important gene associated with Watson Syndrome is NF1 (neurofibromin 1). Affiliated tissues include testes.

Wikipedia:65 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Description from OMIM:47 193520

Aliases & Classifications for Watson Syndrome

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43NIH Rare Diseases, 20GeneTests, 47OMIM, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

watson syndrome 43 20 47 45
cafe-au-lait macules with pulmonary stenosis 62
pulmonic stenosis with cafe-au-lait spots 43
cafe-au-lait spots with pulmonic stenosis 43


Related Diseases for Watson Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Watson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome10.5
2neurofibromatosis10.2
3coronary artery disease10.1
4noonan syndrome10.1
5artery disease10.1
6aneurysm10.1
7alagille syndrome 210.1

Graphical network of diseases related to Watson Syndrome:



Diseases related to watson syndrome

Symptoms for Watson Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

193520

Clinical features from OMIM:

193520

Drugs & Therapeutics for Watson Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Watson Syndrome

Search NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

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20GeneTests
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Genetic tests related to Watson Syndrome:

id Genetic test Affiliating Genes
1 Watson Syndrome20 NF1

Anatomical Context for Watson Syndrome

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33MalaCards
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MalaCards organs/tissues related to Watson Syndrome:

33
Testes

Animal Models for Watson Syndrome or affiliated genes

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Publications for Watson Syndrome

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52PubMed
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Articles related to Watson Syndrome:

idTitleAuthorsYear
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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Watson Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NF1NF1, 42-BP DUPduplicationPathogenic/card/watson_syndrome
2NF1NF1, 80-KB DELdeletionPathogenic/card/watson_syndrome
3NF1NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del)deletionPathogenicrs267606606GRCh37Chr 17, 29556972: 29556974

Expression for genes affiliated with Watson Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Watson Syndrome

Search GEO for disease gene expression data for Watson Syndrome.

Pathways for genes affiliated with Watson Syndrome

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Compounds for genes affiliated with Watson Syndrome

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GO Terms for genes affiliated with Watson Syndrome

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Products for genes affiliated with Watson Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Watson Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet