WTSN
MCID: WTS001
MIFTS: 28

Watson Syndrome (WTSN) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Watson Syndrome

Aliases & Descriptions for Watson Syndrome:

Name: Watson Syndrome 54 50 24 66 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 66
Cafe-Au-Lait Spots with Pulmonic Stenosis 50
Wtsn 66

Characteristics:

HPO:

32
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 193520
MedGen 40 C0553586
MeSH 42 D009456

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 and alagille syndrome 2, and has symptoms including short stature, abnormality of the cardiovascular system and multiple cafe-au-lait spots. An important gene associated with Watson Syndrome is NF1 (Neurofibromin 1). The drugs Aspirin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include testes.

OMIM : 54 Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased... (193520) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 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 11.7
2 alagille syndrome 2 11.0
3 neurofibromatosis 9.9
4 artery disease 9.7
5 aneurysm 9.7
6 coronary artery disease 9.7
7 neurofibromatosis, type 1 9.7

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



Diseases related to Watson Syndrome

Symptoms & Phenotypes for Watson Syndrome

Symptoms by clinical synopsis from OMIM:

193520

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 abnormality of the cardiovascular system 32 HP:0001626
3 multiple cafe-au-lait spots 32 HP:0007565
4 neurofibromas 32 HP:0001067
5 relative macrocephaly 32 HP:0004482
6 axillary freckling 32 HP:0000997
7 lisch nodules 32 HP:0009737

Drugs & Therapeutics for Watson Syndrome

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

(show top 50) (show all 129)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
2
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
3
Everolimus Approved Phase 4 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
5
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
6 Dolutegravir Approved Phase 4 1051375-16-6 54726191
7
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
8 Analgesics Phase 4,Phase 3
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
10 Analgesics, Non-Narcotic Phase 4,Phase 3
11 Peripheral Nervous System Agents Phase 4,Phase 3
12 Anti-Infective Agents Phase 4,Phase 3,Phase 2
13 Antipyretics Phase 4,Phase 3
14 Antiviral Agents Phase 4,Phase 3,Phase 2
15 Prasugrel hydrochloride Phase 4 389574-19-0
16 Albumin-Bound Paclitaxel Phase 4
17 Cyclooxygenase Inhibitors Phase 4,Phase 3
18 Platelet Aggregation Inhibitors Phase 4,Phase 3
19 Fibrinolytic Agents Phase 4,Phase 3
20 Anti-Inflammatory Agents Phase 4,Phase 3
21 Purinergic P2 Receptor Antagonists Phase 4,Phase 3
22 Purinergic P2Y Receptor Antagonists Phase 4,Phase 3
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2
25 HIV Integrase Inhibitors Phase 4
26 Anti-HIV Agents Phase 4,Phase 2,Phase 3
27 Integrase Inhibitors Phase 4
28 Anti-Retroviral Agents Phase 4,Phase 2,Phase 3
29
Daunorubicin Approved Phase 3 20830-81-3 30323
30
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
31
Lenograstim Approved Phase 3 135968-09-1
32
Tenofovir Approved, Investigational Phase 2, Phase 3 147127-20-6 464205
33
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
34
Emtricitabine Approved, Investigational Phase 2, Phase 3 143491-57-0 60877
35
Pitavastatin Approved Phase 3 147511-69-1, 147526-32-7 6366718 5282452
36
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
37
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
38
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
39
Ticlopidine Approved Phase 3 55142-85-3 5472
40 Gastrointestinal Agents Phase 3
41 Antacids Phase 3
42 Anti-Ulcer Agents Phase 3
43 Adjuvants, Immunologic Phase 3
44 Topoisomerase Inhibitors Phase 3
45 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
46 Immunosuppressive Agents Phase 3,Phase 2
47 Antimetabolites Phase 3
48 Antibiotics, Antitubercular Phase 3,Phase 1,Phase 2
49 Antimetabolites, Antineoplastic Phase 3
50 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
2 Integrase and Maraviroc Intensification for Neurocognitive Dysfunction (InMIND) Recruiting NCT02519777 Phase 4
3 Daunorubicin & Cytarabine +/- Zosuquidar inTreating Older Patients With Newly Diagnosed Acute Myeloid Leukemia or Refractory Anemia Completed NCT00046930 Phase 3
4 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
5 Clofarabine or Daunorubicin Hydrochloride and Cytarabine Followed By Decitabine or Observation in Treating Older Patients With Newly Diagnosed Acute Myeloid Leukemia Recruiting NCT02085408 Phase 3
6 Evaluating the Use of Pitavastatin to Reduce the Risk of Cardiovascular Disease in HIV-Infected Adults Recruiting NCT02344290 Phase 3
7 Safety and Efficacy Study of Injectable Cabotegravir Compared to Daily Oral Tenofovir Disoproxil Fumarate/Emtricitabine (TDF/FTC), For Pre-Exposure Prophylaxis in HIV-Uninfected Cisgender Men and Transgender Women Who Have Sex With Men Recruiting NCT02720094 Phase 2, Phase 3
8 ST Monitoring to Detect Acute Coronary Syndrome Events in Implantable Cardioverter Defibrillator Patients Active, not recruiting NCT01424722 Phase 3
9 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3
10 Use of Silodosin to Treat Moderate to Severe Abacterial Chronic Prostatitis/Chronic Pelvic Pain Syndrome. Completed NCT00740779 Phase 2
11 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
12 Efficacy and Safety Study of Uracyst to Treat Interstitial Cystitis/Painful Bladder Syndrome Completed NCT00919113 Phase 2
13 Safety Study of Apixaban in Recent Acute Coronary Syndrome Completed NCT00313300 Phase 2
14 Lenalidomide in Comb w/Rituximab for Pts w/CD5+/CD20+ Hem Malignancies Who Relapse/Progress After Rituximab Completed NCT00609869 Phase 2
15 Rituximab, Bendamustine Hydrochloride, and Bortezomib Followed by Rituximab and Lenalidomide in Treating Older Patients With Previously Untreated Mantle Cell Lymphoma Recruiting NCT01415752 Phase 2
16 Evaluating the Safety and Efficacy of Romidepsin in Combination With Antiretroviral Therapy in HIV-Infected Adults With Suppressed Viral Load Recruiting NCT01933594 Phase 1, Phase 2
17 Early ART to Limit Infection and Establishment of Reservoir Recruiting NCT02859558 Phase 2
18 Pilot Trial of the Effect of Vorinostat and AGS-004 on Persistent HIV-1 Infection Recruiting NCT02707900 Phase 1
19 Mechanisms of N-acetylcysteine Mediated Vascular Adverse Effects Unknown status NCT01209455
20 Study of New Catheter & Pressure Monitor System to Help Prevent Compartment Syndrome From Developing in the Injured Leg Unknown status NCT00681616
21 Connect® MDS/AML Disease Registry Recruiting NCT01688011
22 Functional Genomic Influences on Disease Progression and Outcome in Sepsis Recruiting NCT00131196
23 Consent for Use of Stored Patient Specimens for Future Testing Recruiting NCT00031408
24 Corticosteroid Injection as a Predictor of Outcome in Carpal Tunnel Release Terminated NCT00655915

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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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