MCID: WTS001
MIFTS: 25

Watson Syndrome malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Watson Syndrome

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 spots with pulmonic stenosis, is related to alagille syndrome and neurofibromatosis, and has symptoms including 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:46 193520

Aliases & Classifications for Watson Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Watson Syndrome, Aliases & Descriptions:

Name: Watson Syndrome 42 20 46 44 48
Cafe-Au-Lait Spots with Pulmonic Stenosis 42 62
Pulmonic Stenosis with Cafe-Au-Lait Spots 42 62
 
Pulmonic Stenosis with 'café-Au-Lait' Spots 48
Cafe-Au-Lait Macules with Pulmonary Stenosis 62


Classifications:

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


External Ids:

OMIM46 193520
ICD10 via Orphanet26 Q85.0
UMLS via Orphanet63 C0553586

Related Diseases for Watson Syndrome

About this section

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

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

Graphical network of diseases related to Watson Syndrome:



Diseases related to watson syndrome

Symptoms for Watson Syndrome

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Watson Syndrome

Search NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

About this section

Genetic tests related to Watson Syndrome:

id Genetic test Affiliating Genes
1 Watson Syndrome20 NF1

Anatomical Context for Watson Syndrome

About this section

MalaCards organs/tissues related to Watson Syndrome:

32
Testes

Animal Models for Watson Syndrome or affiliated genes

About this section

Publications for Watson Syndrome

About this section

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

About this section

Clinvar genetic disease variations for Watson Syndrome:

6
id Gene Name 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

About this section
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

About this section

Compounds for genes affiliated with Watson Syndrome

About this section

GO Terms for genes affiliated with Watson Syndrome

About this section

Products for genes affiliated with Watson Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Watson Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet