MCID: WTS001
MIFTS: 30

Watson Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Watson Syndrome

MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 54 50 24 71 13 52
Pulmonic Stenosis with Cafe-Au-Lait Spots 50 24
Cafe-Au-Lait Macules with Pulmonary Stenosis 69
Pulmonary Stenosis with Cafe-Au-Lait Spots 71
Cafe-Au-Lait Spots with Pulmonic Stenosis 50
Wtsn 71

Characteristics:

OMIM:

54
Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )

Inheritance:
autosomal dominant


HPO:

32
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Watson Syndrome

NIH Rare Diseases : 50 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 pulmonic stenosis with cafe-au-lait spots, is related to alagille syndrome 1 and alagille syndrome 2, and has symptoms including short stature, relative macrocephaly and axillary freckling. An important gene associated with Watson Syndrome is NF1 (Neurofibromin 1). The drugs Cytarabine and Daunorubicin have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and myeloid.

UniProtKB/Swiss-Prot : 71 Watson syndrome: A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.

OMIM : 54
Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). (193520)

Wikipedia : 72 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Related Diseases for Watson Syndrome

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

id Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 11.7
2 alagille syndrome 2 11.0
3 coronary artery disease 9.7
4 neurofibromatosis, type 1 9.7
5 artery disease 9.7
6 aneurysm 9.7

Graphical network of the top 20 diseases related to Watson Syndrome:



Diseases related to Watson Syndrome

Symptoms & Phenotypes for Watson Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
low iq

Cardiovascular- Heart:
pulmonary valvular stenosis

Head And Neck- Head:
relative macrocephaly

Skin Nails & Hair- Skin:
axillary freckling
neurofibromas
multiple cafe-au-lait spots

Head And Neck- Eyes:
lisch nodules

Growth- Height:
short stature


Clinical features from OMIM:

193520

Human phenotypes related to Watson Syndrome:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 relative macrocephaly 32 HP:0004482
3 axillary freckling 32 HP:0000997
4 neurofibromas 32 HP:0001067
5 lisch nodules 32 HP:0009737
6 multiple cafe-au-lait spots 32 HP:0007565
7 abnormality of the cardiovascular system 32 HP:0001626

Drugs & Therapeutics for Watson Syndrome

Drugs for Watson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 95)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
2
Daunorubicin Approved Phase 3 20830-81-3 30323
3
Lenograstim Approved Phase 3 135968-09-1
4
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
5
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
6
Ticlopidine Approved Phase 3 55142-85-3 5472
7
Clopidogrel Approved, Nutraceutical Phase 3 120202-66-6, 113665-84-2 60606
8 Anti-Infective Agents Phase 3,Phase 2
9 Antiviral Agents Phase 3
10 Analgesics Phase 3
11 Analgesics, Non-Narcotic Phase 3
12 Antacids Phase 3
13 Antipyretics Phase 3
14 Anti-Ulcer Agents Phase 3
15 Gastrointestinal Agents Phase 3
16 Neurotransmitter Agents Phase 3,Phase 2
17 Peripheral Nervous System Agents Phase 3
18 Adjuvants, Immunologic Phase 3
19 Anti-Bacterial Agents Phase 3,Phase 2
20 Antibiotics, Antitubercular Phase 3
21 Antimetabolites Phase 3
22 Antimetabolites, Antineoplastic Phase 3
23 Immunosuppressive Agents Phase 3,Phase 2
24 Topoisomerase Inhibitors Phase 3
25 Antirheumatic Agents Phase 3,Phase 2
26 Anti-Inflammatory Agents Phase 3
27 Anti-Inflammatory Agents, Non-Steroidal Phase 3
28 Cyclooxygenase Inhibitors Phase 3
29 Cytochrome P-450 Enzyme Inhibitors Phase 3
30 Fibrinolytic Agents Phase 3
31 Platelet Aggregation Inhibitors Phase 3
32
Proton pump inhibitors Phase 3
33 Purinergic P2 Receptor Antagonists Phase 3
34 Purinergic P2Y Receptor Antagonists Phase 3
35
Silodosin Approved Phase 2 160970-54-7
36
Apixaban Approved Phase 2 503612-47-3 10182969
37
Lenalidomide Approved Phase 2 191732-72-6 216326
38
rituximab Approved Phase 2 174722-31-7 10201696
39 Adrenergic Agents Phase 2
40 Adrenergic alpha-1 Receptor Antagonists Phase 2
41 Adrenergic alpha-Antagonists Phase 2
42 Adrenergic Antagonists Phase 2
43 Pharmaceutical Solutions Phase 2
44 Anticoagulants Phase 2
45 Antithrombin III Phase 2
46 Antithrombins Phase 2
47 Factor Xa Inhibitors Phase 2
48 HIV Protease Inhibitors Phase 2
49
protease inhibitors Phase 2
50 Serine Proteinase Inhibitors Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Daunorubicin & Cytarabine +/- Zosuquidar inTreating Older Patients With Newly Diagnosed Acute Myeloid Leukemia or Refractory Anemia Completed NCT00046930 Phase 3 cytarabine;daunorubicin hydrochloride;zosuquidar trihydrochloride;Placebo
2 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3 CGT-2168 (clopidogrel 75 mg/omeprazole 20 mg) and aspirin;Plavix (clopidogrel 75 mg) and aspirin
3 Use of Silodosin to Treat Moderate to Severe Abacterial Chronic Prostatitis/Chronic Pelvic Pain Syndrome. Completed NCT00740779 Phase 2 Silodosin 8 mg;Placebo;Silodosin 4 mg
4 A Pilot Clinical Investigation of the Efficacy and Safety of Uracyst® Versus Placebo in Patients With Interstitial Cystitis/Painful Bladder Syndrome. Completed NCT00527917 Phase 2
5 Efficacy and Safety Study of Uracyst to Treat Interstitial Cystitis/Painful Bladder Syndrome Completed NCT00919113 Phase 2 2% sodium chondroitin sulfate;Placebo
6 Safety Study of Apixaban in Recent Acute Coronary Syndrome Completed NCT00313300 Phase 2 Apixaban;Apixaban;Placebo;Apixaban
7 Lenalidomide in Comb w/Rituximab for Pts w/CD5+/CD20+ Hem Malignancies Who Relapse/Progress After Rituximab Completed NCT00609869 Phase 2 Lenalidomide;Rituximab
8 Mechanisms of N-acetylcysteine Mediated Vascular Adverse Effects Unknown status NCT01209455 Chlorphenamine and Ranitidine;Paracetamol;Paracetamol
9 Study of New Catheter & Pressure Monitor System to Help Prevent Compartment Syndrome From Developing in the Injured Leg Unknown status NCT00681616
10 Connect® MDS/AML Disease Registry Recruiting NCT01688011
11 Corticosteroid Injection as a Predictor of Outcome in Carpal Tunnel Release Terminated NCT00655915
12 ST Monitoring to Detect Acute Coronary Syndrome Events in Implantable Cardioverter Defibrillator Patients Terminated NCT01424722

Search NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

Genetic tests related to Watson Syndrome:

id Genetic test Affiliating Genes
1 Watson Syndrome 24 NF1

Anatomical Context for Watson Syndrome

MalaCards organs/tissues related to Watson Syndrome:

39
Testes, Prostate, Myeloid

Publications for Watson Syndrome

Articles related to Watson Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Watson Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, 42-BP DUP duplication Pathogenic
2 NF1 NF1, 80-KB DEL deletion Pathogenic
3 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974

Expression for Watson Syndrome

Search GEO for disease gene expression data for Watson Syndrome.

Pathways for Watson Syndrome

GO Terms for Watson Syndrome

Sources for Watson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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