MCID: WTS001
MIFTS: 21

Watson Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Watson Syndrome

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Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:66 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Description from OMIM:48 193520

Aliases & Classifications for Watson Syndrome

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44NIH Rare Diseases, 21GeneTests, 48OMIM, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

watson syndrome 44 21 48 46
cafe-au-lait macules with pulmonary stenosis 63
pulmonic stenosis with cafe-au-lait spots 44
cafe-au-lait spots with pulmonic stenosis 44


Related Diseases for Watson Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Watson Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Watson Syndrome

Search CenterWatch for Watson Syndrome

Genetic Tests for Watson Syndrome

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21GeneTests
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Genetic tests related to Watson Syndrome:

id Genetic test Affiliating Genes
1 Watson Syndrome21 NF1

Anatomical Context for Watson Syndrome

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34MalaCards
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MalaCards organs/tissues related to Watson Syndrome:

34
Testes

Animal Models for Watson Syndrome or affiliated genes

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Publications for Watson Syndrome

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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet