MCID: WTS001
MIFTS: 23

Watson Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Watson Syndrome

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NIH Rare Diseases:41 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 cafe-au-lait macules with pulmonary stenosis, is related to alagille syndrome and neurofibromatosis, and has symptoms including autosomal dominant inheritance, axillary freckling and neurofibromas. An important gene associated with Watson Syndrome is NF1 (neurofibromin 1). Affiliated tissues include testes.

OMIM:45 Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased... (193520) more...

Wikipedia:63 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Aliases & Classifications for Watson Syndrome

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Watson Syndrome, Aliases & Descriptions:

Name: Watson Syndrome 45 10 41 20 43
Cafe-Au-Lait Macules with Pulmonary Stenosis 60
Pulmonic Stenosis with Café-Au-Lait Spots 41
 
Pulmonic Stenosis with Cafe-Au-Lait Spots 41
Cafe-Au-Lait Spots with Pulmonic Stenosis 41
Hereditary Coproporphyria 60


Classifications:

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


External Ids:

OMIM45 193520

Related Diseases for Watson Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome10.4
2neurofibromatosis10.2
3coronary artery disease10.1
4neurofibromatosis, type 110.1
5artery disease10.1
6aneurysm10.1
7alagille syndrome due to 20p12 microdeletion10.1
8alagille syndrome due to a jag1 point mutation10.1
9alagille syndrome due to a notch2 point mutation10.1

Graphical network of diseases related to Watson Syndrome:



Diseases related to watson syndrome

Symptoms for Watson Syndrome

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Symptoms by clinical synopsis from OMIM:

193520

Clinical features from OMIM:

193520

HPO human phenotypes related to Watson Syndrome:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 axillary freckling HP:0000997
3 neurofibromas HP:0001067
4 abnormality of the cardiovascular system HP:0001626
5 short stature HP:0004322
6 relative macrocephaly HP:0004482
7 multiple cafe-au-lait spots HP:0007565
8 lisch nodules HP:0009737

Drugs & Therapeutics for Watson Syndrome

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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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Genetic tests related to Watson Syndrome:

id Genetic test Affiliating Genes
1 Watson Syndrome20 NF1

Anatomical Context for Watson Syndrome

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MalaCards organs/tissues related to Watson Syndrome:

31
Testes

Animal Models for Watson Syndrome or affiliated genes

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Publications for Watson Syndrome

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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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Clinvar genetic disease variations for Watson Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NF1NF1, 42-BP DUPduplicationPathogenic
2NF1NF1, 80-KB DELdeletionPathogenic
3NF1NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del)deletionPathogenicrs267606606GRCh37Chr 17, 29556972: 29556974

Expression for genes affiliated with Watson Syndrome

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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
  • Proteins
  • Kits and Assays

Sources for Watson Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet