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WTSN
MCID: WTS001
MIFTS: 30

Watson Syndrome (WTSN)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Watson Syndrome

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MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 57 73 72 36 13 54 39
Pulmonic Stenosis with Cafe-Au-Lait Spots 57 6
Wtsn 57 72
Cafe-Au-Lait Macules with Pulmonary Stenosis 70
Pulmonary Stenosis with Cafe-Au-Lait Spots 72
Cafe-Au-Lait Spots with Pulmonic Stenosis 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )


HPO:

31
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Respiratory diseases Mental diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 193520
KEGG 36 H02188
MeSH 44 D009456
MedGen 41 C0553586
UMLS 70 C0553586
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Summaries for Watson Syndrome

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OMIM® : 57 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) (Updated 20-May-2021)

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. An important gene associated with Watson Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Ras signaling pathway and MAPK signaling pathway. Affiliated tissues include liver, and related phenotypes are short stature and abnormality of the cardiovascular system

KEGG : 36 Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.

UniProtKB/Swiss-Prot : 72 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 : 73 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

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Related Diseases for Watson Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 11.6
2 alagille syndrome 2 11.2
3 neurofibromatosis-noonan syndrome 11.0
4 neurofibromatosis, type i 10.2
5 neurofibromatosis 10.2
6 noonan syndrome 1 10.0
7 pulmonary valve stenosis 10.0
8 neurofibroma 10.0
9 arteries, anomalies of 9.9
10 pulmonic stenosis 9.9
11 lipoprotein quantitative trait locus 9.9
12 liver cirrhosis 9.9
13 plexiform neurofibroma 9.9
14 pseudo-turner syndrome 9.9

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



Diseases related to Watson Syndrome
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Symptoms & Phenotypes for Watson Syndrome

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Human phenotypes related to Watson Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 abnormality of the cardiovascular system 31 HP:0001626
3 multiple cafe-au-lait spots 31 HP:0007565
4 lisch nodules 31 HP:0009737
5 neurofibromas 31 HP:0001067
6 relative macrocephaly 31 HP:0004482
7 axillary freckling 31 HP:0000997

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Head And Neck Eyes:
lisch nodules

Cardiovascular Heart:
pulmonary valvular stenosis

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

Head And Neck Head:
relative macrocephaly

Neurologic Central Nervous System:
low iq

Clinical features from OMIM®:

193520 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Watson Syndrome

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Search Clinical Trials , NIH Clinical Center for Watson Syndrome

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Genetic Tests for Watson Syndrome

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Anatomical Context for Watson Syndrome

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MalaCards organs/tissues related to Watson Syndrome:

40
Liver
Sources

Publications for Watson Syndrome

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Articles related to Watson Syndrome:

(show all 39)
# Title Authors PMID Year
1
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. 57 6 61
8317503 1993
2
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 57 6
1302608 1992
3
Watson syndrome: is it a subtype of type 1 neurofibromatosis? 57 54 61
1770531 1991
4
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 61 6
23047742 2013
5
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. 6
24951259 2015
6
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 6
23758643 2013
7
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 6
22807134 2012
8
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. 6
17160901 2007
9
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 6
16542390 2006
10
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 6
16479075 2006
11
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 6
15060124 2004
12
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 6
14569132 2003
13
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 6
10712197 2000
14
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 6
9668168 1998
15
The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. 6
9545275 1998
16
Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 6
9302992 1997
17
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. 6
1568246 1992
18
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. 57
1348095 1992
19
Phosphorylation of Biologically active analogs of riboflavin. 6
190611 1977
20
Pulmonary stenosis, café-au-lait spots, and dull intelligence. 57
6025371 1967
21
Neurofibromin 1 Impairs Natural Killer T-Cell-Dependent Antitumor Immunity against a T-Cell Lymphoma. 61
29354122 2017
22
Generation of KCL025 research grade human embryonic stem cell line carrying a mutation in NF1 gene. 61
27345978 2016
23
Generation of KCL024 research grade human embryonic stem cell line carrying a mutation in NF1 gene. 61
27345975 2016
24
Prediction of disease-related genes based on weighted tissue-specific networks by using DNA methylation. 61
25350763 2014
25
[Congenital bile duct hypoplasia (Alagille-Watson syndrome)--a rare cause of biliary cirrhosis in adults]. 61
23789457 2013
26
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 61
17103458 2006
27
Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. 61
16863806 2006
28
Molecular and cytogenetic characterisation of a small interstitial de novo 20p13-->p12.3 deletion in a patient with severe growth deficit. 61
11856871 2001
29
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. 61
11078559 2000
30
The different forms of neurofibromatosis. 61
10461778 1999
31
[Plexiform neurofibroma and basal ganglia anomaly in Watson syndrome]. 61
10412128 1999
32
The neurofibromatoses. An overview. 61
10933430 1999
33
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). 61
9890073 1998
34
Alagille syndrome. 61
9039994 1997
35
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 61
7586657 1995
36
Evidence of central nervous system involvement in Watson syndrome. 61
7619195 1995
37
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. 61
7877009 1994
38
46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. 61
1296522 1992
39
[On the Watson syndrome in the preclimacteric and climacteric age]. 61
13986665 1962
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Variations for Watson Syndrome

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ClinVar genetic disease variations for Watson Syndrome:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_000267.3(NF1):c.2970_2972del (p.Met992del) Deletion Pathogenic 363 rs267606606 GRCh37: 17:29556972-29556974
GRCh38: 17:31229954-31229956
2 NF1 NF1, 80-KB DEL Deletion Pathogenic 342 GRCh37:
GRCh38:
3 NF1 NF1, 42-BP DUP Duplication Pathogenic 341 GRCh37:
GRCh38:
4 NF1 NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic 230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
5 NF1 NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic 576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
6 NF1 NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic 280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
7 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
8 NF1 NM_000267.3(NF1):c.3870+1G>T SNV Pathogenic 565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
9 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
10 NF1 NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) SNV Pathogenic 570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
11 NF1 NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) SNV Pathogenic 208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
12 NF1 NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) SNV Pathogenic 185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
13 NF1 NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) SNV Pathogenic 187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
14 NF1 NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) SNV Pathogenic 343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
15 NF1 NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) SNV Pathogenic 233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
16 NF1 NM_000267.3(NF1):c.5943+1G>A SNV Pathogenic 488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
17 NF1 NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) SNV Pathogenic 428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
18 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic 68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
19 NF1 NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) SNV Pathogenic 208853 rs797045139 GRCh37: 17:29654736-29654736
GRCh38: 17:31327718-31327718
20 NF1 NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) SNV Pathogenic 184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
21 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) SNV Pathogenic 185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
22 NF1 NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) SNV Likely pathogenic 457650 rs1064794277 GRCh37: 17:29559850-29559850
GRCh38: 17:31232832-31232832
23 NF1 NM_000267.3(NF1):c.*3091A>C SNV Uncertain significance 322605 rs570154156 GRCh37: 17:29704264-29704264
GRCh38: 17:31377246-31377246
24 NF1 NM_000267.3(NF1):c.*2071G>A SNV Uncertain significance 322594 rs886052811 GRCh37: 17:29703244-29703244
GRCh38: 17:31376226-31376226
25 NF1 NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) SNV Uncertain significance 41679 rs201824349 GRCh37: 17:29685632-29685632
GRCh38: 17:31358614-31358614
26 NF1 NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) SNV Uncertain significance 186162 rs565708398 GRCh37: 17:29676161-29676161
GRCh38: 17:31349143-31349143
27 NF1 NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) SNV Uncertain significance 185777 rs143836226 GRCh37: 17:29562948-29562948
GRCh38: 17:31235930-31235930
28 NF1 NM_000267.3(NF1):c.4467A>G (p.Leu1489=) SNV Uncertain significance 322574 rs876660089 GRCh37: 17:29587486-29587486
GRCh38: 17:31260468-31260468
29 NF1 NM_000267.3(NF1):c.3891A>G (p.Leu1297=) SNV Uncertain significance 322573 rs753036396 GRCh37: 17:29562956-29562956
GRCh38: 17:31235938-31235938
30 LOC111811965 , NF1 NM_000267.3(NF1):c.-73G>T SNV Uncertain significance 322565 rs886052795 GRCh37: 17:29422255-29422255
GRCh38: 17:31095237-31095237
31 NF1 NM_001042492.3(NF1):c.5306G>C (p.Arg1769Pro) SNV Uncertain significance 1032277 GRCh37: 17:29654554-29654554
GRCh38: 17:31327536-31327536
32 LOC111811965 , NF1 NM_000267.3(NF1):c.-209C>A SNV Uncertain significance 322560 rs886052790 GRCh37: 17:29422119-29422119
GRCh38: 17:31095101-31095101
33 NF1 NM_001042492.3(NF1):c.4378C>G (p.His1460Asp) SNV Uncertain significance 1029751 GRCh37: 17:29586095-29586095
GRCh38: 17:31259077-31259077
34 NF1 NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) SNV Uncertain significance 457642 rs751571517 GRCh37: 17:29559762-29559762
GRCh38: 17:31232744-31232744
35 NF1 NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) SNV Uncertain significance 457643 rs374472758 GRCh37: 17:29559774-29559774
GRCh38: 17:31232756-31232756
36 NF1 NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) SNV Uncertain significance 141747 rs146641724 GRCh37: 17:29560127-29560127
GRCh38: 17:31233109-31233109
37 NF1 NM_000267.3(NF1):c.3811A>G (p.Met1271Val) SNV Uncertain significance 457669 rs746583007 GRCh37: 17:29562731-29562731
GRCh38: 17:31235713-31235713
38 NF1 NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) SNV Uncertain significance 404507 rs1060500310 GRCh37: 17:29585389-29585389
GRCh38: 17:31258371-31258371
39 NF1 NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) SNV Uncertain significance 185835 rs786202492 GRCh37: 17:29586111-29586111
GRCh38: 17:31259093-31259093
40 NF1 NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) SNV Uncertain significance 216405 rs185660700 GRCh37: 17:29592288-29592288
GRCh38: 17:31265270-31265270
41 NF1 NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) SNV Uncertain significance 484003 rs751904277 GRCh37: 17:29657433-29657433
GRCh38: 17:31330415-31330415
42 NF1 NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) SNV Uncertain significance 220184 rs377662483 GRCh37: 17:29677233-29677233
GRCh38: 17:31350215-31350215
43 NF1 NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) SNV Uncertain significance 216411 rs748027595 GRCh37: 17:29677275-29677275
GRCh38: 17:31350257-31350257
44 NF1 NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) SNV Uncertain significance 141844 rs149055633 GRCh37: 17:29679337-29679337
GRCh38: 17:31352319-31352319
45 NF1 NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) SNV Uncertain significance 68363 rs199474793 GRCh37: 17:29684308-29684308
GRCh38: 17:31357290-31357290
46 NF1 NM_000267.3(NF1):c.169G>A (p.Gly57Ser) SNV Uncertain significance 237522 rs779727341 GRCh37: 17:29483109-29483109
GRCh38: 17:31156091-31156091
47 NF1 NM_000267.3(NF1):c.575G>A (p.Arg192Gln) SNV Uncertain significance 141341 rs587781670 GRCh37: 17:29497004-29497004
GRCh38: 17:31169986-31169986
48 NF1 NM_000267.3(NF1):c.845A>G (p.Gln282Arg) SNV Uncertain significance 527438 rs779034900 GRCh37: 17:29509640-29509640
GRCh38: 17:31182622-31182622
49 NF1 NM_000267.3(NF1):c.1166A>G (p.His389Arg) SNV Uncertain significance 141982 rs149739570 GRCh37: 17:29528158-29528158
GRCh38: 17:31201140-31201140
50 NF1 NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) SNV Uncertain significance 41670 rs200302954 GRCh37: 17:29556218-29556218
GRCh38: 17:31229200-31229200
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Expression for Watson Syndrome

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Search GEO for disease gene expression data for Watson Syndrome.
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Pathways for Watson Syndrome

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Pathways related to Watson Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010
Sources

GO Terms for Watson Syndrome

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Sources for Watson Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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