MCID: WTS001
MIFTS: 23

Watson Syndrome malady

Cardiovascular, Skin, Fetal categories

Summaries for Watson Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 n syndrome, and has symptoms including hypertelorism, short neck and pectus excavatum. An important gene associated with Watson Syndrome is NF1 (neurofibromin 1).

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 20GeneTests, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular, Skin


Characteristics (Orphanet epidemiological data):

49
watson syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

watson syndrome 43 20 47 45 49
cafe-au-lait macules with pulmonary stenosis 61
pulmonic stenosis with 'cafe-au-lait' spots 49
cafe-au-lait spots with pulmonic stenosis 43
pulmonic stenosis with cafe-au-lait spots 43


External Ids:

OMIM47 193520
ICD10 via Orphanet26 Q85.0

Related Diseases for Watson Syndrome

Sources:
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
2n syndrome10.3
3neurofibromatosis10.2
4noonan syndrome10.1
5neurofibromatosis-noonan syndrome10.1
6alagille syndrome 210.1

Graphical network of diseases related to Watson Syndrome:



Diseases related to watson syndrome

Clinical Features for Watson Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

193520

Clinical synopsis from OMIM:

193520

Symptoms:

49 (show all 29)
  • hypertelorism
  • short neck
  • pectus excavatum
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ptosis
  • kyphosis
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • hypotonia
  • long/large ear
  • inguinal/inguinoscrotal/crural hernia
  • philtrum flat/large/featureless/absent cupidon bows
  • short stature/dwarfism/nanism
  • congenital cardiac anomaly/malformation/cardiopathy
  • epicanthic folds
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • puffy eyelids
  • broad forehead
  • cafe-au-lait spot
  • excess nuchal skin without pterygium colli
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypospadias/epispadias/bent penis
  • philtrum deeply grooved
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • excessive freckling
  • triangular face

Drugs & Therapeutics for Watson Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Watson Syndrome

Drug clinical trials:

Search ClinicalTrials for Watson Syndrome

Search NIH Clinical Center for Watson Syndrome

Search CenterWatch for Watson Syndrome

Genetic Tests for Watson Syndrome

Sources:
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

Animal Models for Watson Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Watson Syndrome

Sources:
51PubMed
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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
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). (9890073)
1998
3
Evidence of central nervous system involvement in Watson syndrome. (7619195)
1995
4
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. (7877009)
1994
5
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (8317503)
1993
6
Watson syndrome: is it a subtype of type 1 neurofibromatosis? (1770531)
1991
7
Xanthomas in the Watson-Alagille syndrome. (3108338)
1987
8
Superior mesenteric artery syndrome: an unusual cause of Watson biopsy capsule retention. (3981360)
1985

Genetic Variations for Watson Syndrome

Expression for genes affiliated with Watson Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Watson Syndrome

GO Terms for genes affiliated with Watson Syndrome

Products for genes affiliated with Watson Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Watson Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet