MCID: WTS001
MIFTS: 26

Watson Syndrome malady

Cardiovascular diseases, Skin diseases, Fetal diseases categories

Summaries for Watson Syndrome

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Watson Syndrome, also known as cafe-au-lait macules with pulmonary stenosis, is related to alagille syndrome and neurofibromatosis, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, puffy eyelids and broad forehead. An important gene associated with Watson Syndrome is NF1 (neurofibromin 1). Affiliated tissues include testes and skin.

Wikipedia:63 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

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
watson syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

watson syndrome 42 20 46 44 48
cafe-au-lait macules with pulmonary stenosis 60
pulmonic stenosis with 'cafe-au-lait' spots 48
cafe-au-lait spots with pulmonic stenosis 42
pulmonic stenosis with cafe-au-lait spots 42


External Ids:

OMIM46 193520
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet57 403820003

Related Diseases for Watson Syndrome

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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
2neurofibromatosis10.2
3noonan syndrome10.0
4alagille syndrome 210.0

Clinical Features for Watson Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

193520

Clinical synopsis from OMIM:

193520

Symptoms:

48 (show all 29)
  • 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
  • epicanthic folds
  • congenital cardiac anomaly/malformation/cardiopathy
  • short stature/dwarfism/nanism
  • 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
  • hypertelorism

Drugs & Therapeutics for Watson Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Watson Syndrome:

32
Testes, Skin

Animal Models for Watson Syndrome or affiliated genes

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Publications for Watson Syndrome

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Genetic Variations for Watson Syndrome

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Expression for genes affiliated with Watson Syndrome

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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

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet