WTSN
MCID: WTS001
MIFTS: 30

Watson Syndrome (WTSN)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases
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Aliases & Classifications for Watson Syndrome

MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 57 75 73 12 53
Pulmonic Stenosis with Cafe-Au-Lait Spots 57 5
Wtsn 57 73
Cafe-Au-Lait Macules with Pulmonary Stenosis 71
Pulmonary Stenosis with Cafe-Au-Lait Spots 73
Cafe-Au-Lait Spots with Pulmonic Stenosis 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )


Classifications:



External Ids:

OMIM® 57 193520
MeSH 43 D009456
MedGen 40 C0553586
UMLS 71 C0553586

Summaries for Watson Syndrome

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 08-Dec-2022)

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). Affiliated tissues include breast, and related phenotypes are hypertelorism and pectus carinatum

UniProtKB/Swiss-Prot: 73 A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis.

Wikipedia: 75 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 11.6
2 alagille syndrome 2 11.3
3 neurofibromatosis-noonan syndrome 11.2
4 pulmonary valve stenosis 10.2
5 neurofibromatosis, type i 10.2
6 neurofibromatosis 10.2
7 neurofibroma 10.0
8 cafe-au-lait spots, multiple 9.9
9 noonan syndrome 1 9.9
10 pulmonic stenosis 9.9
11 hyperlipoproteinemia, type iii 9.9
12 lipoprotein quantitative trait locus 9.9
13 liver cirrhosis 9.9
14 plexiform neurofibroma 9.9

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



Diseases related to Watson Syndrome

Symptoms & Phenotypes for Watson Syndrome

Human phenotypes related to Watson Syndrome:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 30 Very rare (1%) HP:0000316
2 pectus carinatum 30 Very rare (1%) HP:0000768
3 low-set ears 30 Very rare (1%) HP:0000369
4 epicanthus 30 Very rare (1%) HP:0000286
5 multiple cafe-au-lait spots 30 Very rare (1%) HP:0007565
6 pulmonic stenosis 30 Very rare (1%) HP:0001642
7 moderate global developmental delay 30 Very rare (1%) HP:0011343
8 posteriorly rotated ears 30 Very rare (1%) HP:0000358
9 axillary freckling 30 Very rare (1%) HP:0000997
10 inguinal freckling 30 Very rare (1%) HP:0030052
11 short stature 30 HP:0004322
12 neurofibromas 30 HP:0001067
13 relative macrocephaly 30 HP:0004482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Drugs & Therapeutics for Watson Syndrome

Search Clinical Trials, NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

Anatomical Context for Watson Syndrome

Organs/tissues related to Watson Syndrome:

MalaCards : Breast

Publications for Watson Syndrome

Articles related to Watson Syndrome:

(show all 43)
# 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. 62 57 5
8317503 1993
2
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 57 5
1302608 1992
3
Watson syndrome: is it a subtype of type 1 neurofibromatosis? 53 62 57
1770531 1991
4
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 62 5
23047742 2013
5
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation. 5
30530636 2019
6
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. 5
24951259 2015
7
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 5
24789688 2014
8
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 5
23758643 2013
9
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 5
22807134 2012
10
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. 5
17160901 2007
11
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 5
16542390 2006
12
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 5
16479075 2006
13
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. 5
15060124 2004
14
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 5
14569132 2003
15
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. 5
10712197 2000
16
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 5
9668168 1998
17
The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. 5
9545275 1998
18
Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras. 5
9302992 1997
19
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. 5
1568246 1992
20
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. 57
1348095 1992
21
Phosphorylation of Biologically active analogs of riboflavin. 5
190611 1977
22
Pulmonary stenosis, café-au-lait spots, and dull intelligence. 57
6025371 1967
23
A rare case of Watson syndrome. 62
36045473 2022
24
Enabling Real-Time Quality-of-Service and Fine-Grained Aggregation for Wireless TSN. 62
35632308 2022
25
Neurofibromin 1 Impairs Natural Killer T-Cell-Dependent Antitumor Immunity against a T-Cell Lymphoma. 62
29354122 2017
26
Generation of KCL024 research grade human embryonic stem cell line carrying a mutation in NF1 gene. 62
27345975 2016
27
Generation of KCL025 research grade human embryonic stem cell line carrying a mutation in NF1 gene. 62
27345978 2016
28
Prediction of disease-related genes based on weighted tissue-specific networks by using DNA methylation. 62
25350763 2014
29
[Congenital bile duct hypoplasia (Alagille-Watson syndrome)--a rare cause of biliary cirrhosis in adults]. 62
23789457 2013
30
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. 62
17103458 2006
31
Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. 62
16863806 2006
32
Molecular and cytogenetic characterisation of a small interstitial de novo 20p13-->p12.3 deletion in a patient with severe growth deficit. 62
11856871 2001
33
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. 62
11078559 2000
34
The different forms of neurofibromatosis. 62
10461778 1999
35
[Plexiform neurofibroma and basal ganglia anomaly in Watson syndrome]. 62
10412128 1999
36
The neurofibromatoses. An overview. 62
10933430 1999
37
Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome). 62
9890073 1998
38
Alagille syndrome. 62
9039994 1997
39
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. 62
7586657 1995
40
Evidence of central nervous system involvement in Watson syndrome. 62
7619195 1995
41
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. 62
7877009 1994
42
46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. 62
1296522 1992
43
[On the Watson syndrome in the preclimacteric and climacteric age]. 62
13986665 1962

Variations for Watson Syndrome

ClinVar genetic disease variations for Watson Syndrome:

5 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.1882del (p.Tyr628fs) DEL Pathogenic
1213688 GRCh37: 17:29552144-29552144
GRCh38: 17:31225126-31225126
2 NF1 NM_001042492.3(NF1):c.888+2T>G SNV Pathogenic
951075 rs2066160116 GRCh37: 17:29509685-29509685
GRCh38: 17:31182667-31182667
3 NF1 NM_001042492.3(NF1):c.6897del (p.Lys2300fs) DEL Pathogenic
1527847 GRCh37: 17:29665798-29665798
GRCh38: 17:31338780-31338780
4 NF1 NF1, 80-KB DEL DEL Pathogenic
342 GRCh37:
GRCh38:
5 NF1 NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) SNV Pathogenic
576444 rs1567847905 GRCh37: 17:29554250-29554250
GRCh38: 17:31227232-31227232
6 NF1 NM_001042492.3(NF1):c.3870+1G>T SNV Pathogenic
565498 rs1131691075 GRCh37: 17:29562791-29562791
GRCh38: 17:31235773-31235773
7 NF1 NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) SNV Pathogenic
570950 rs1567862991 GRCh37: 17:29587499-29587499
GRCh38: 17:31260481-31260481
8 NF1 NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) SNV Pathogenic
187652 rs786203896 GRCh37: 17:29657486-29657486
GRCh38: 17:31330468-31330468
9 NF1 NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) SNV Pathogenic
428948 rs1131691073 GRCh37: 17:29667571-29667571
GRCh38: 17:31340553-31340553
10 NF1 NM_001042492.3(NF1):c.60+18227_60+18228insGGGCATGAACAACAGAAACTACCTGCTGCCACCTTGGCTTTA INSERT Pathogenic
341 GRCh37: 17:29440614-29440615
GRCh38: 17:31113596-31113597
11 NF1 NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) SNV Pathogenic
184261 rs786201367 GRCh37: 17:29684326-29684326
GRCh38: 17:31357308-31357308
12 NF1 NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic
230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
13 NF1 NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) SNV Pathogenic
185354 rs786202112 GRCh37: 17:29654857-29654857
GRCh38: 17:31327839-31327839
14 NF1 NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) SNV Pathogenic
343 rs137854552 GRCh37: 17:29661945-29661945
GRCh38: 17:31334927-31334927
15 NF1 NM_001042492.3(NF1):c.2970_2972del (p.Met992del) DEL Pathogenic
363 rs267606606 GRCh37: 17:29556972-29556974
GRCh38: 17:31229954-31229956
16 NF1 NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) SNV Pathogenic
208854 rs771529172 GRCh37: 17:29654737-29654737
GRCh38: 17:31327719-31327719
17 NF1 NM_001042492.3(NF1):c.6006+1G>A SNV Pathogenic
488817 rs1555534433 GRCh37: 17:29662050-29662050
GRCh38: 17:31335032-31335032
18 NF1 NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) SNV Pathogenic
185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
19 NF1 NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) SNV Pathogenic
Pathogenic
68341 rs137854556 GRCh37: 17:29562747-29562747
GRCh38: 17:31235729-31235729
20 NF1 NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) SNV Pathogenic
208853 rs797045139 GRCh37: 17:29654736-29654736
GRCh38: 17:31327718-31327718
21 NF1 NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) SNV Pathogenic
280055 rs886041347 GRCh37: 17:29556079-29556079
GRCh38: 17:31229061-31229061
22 NF1 NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) SNV Pathogenic
68323 rs199474747 GRCh37: 17:29556173-29556173
GRCh38: 17:31229155-31229155
23 NF1 NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) SNV Pathogenic
527517 rs1187097568 GRCh37: 17:29559848-29559848
GRCh38: 17:31232830-31232830
24 NF1 NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) SNV Pathogenic
428982 rs1131691103 GRCh37: 17:29654559-29654559
GRCh38: 17:31327541-31327541
25 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic
336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
26 NF1 NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) SNV Pathogenic
233869 rs876660696 GRCh37: 17:29662034-29662034
GRCh38: 17:31335016-31335016
27 NF1 NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) SNV Likely Pathogenic
457650 rs1064794277 GRCh37: 17:29559850-29559850
GRCh38: 17:31232832-31232832
28 NF1 NM_001042492.3(NF1):c.1392+5G>T SNV Uncertain Significance
480071 rs199999754 GRCh37: 17:29533394-29533394
GRCh38: 17:31206376-31206376
29 NF1 NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) SNV Uncertain Significance
184278 rs140653372 GRCh37: 17:29552254-29552254
GRCh38: 17:31225236-31225236
30 NF1 NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) SNV Uncertain Significance
Uncertain Significance
142804 rs368654378 GRCh37: 17:29654761-29654761
GRCh38: 17:31327743-31327743
31 LOC111811965, NF1 NM_000267.3(NF1):c.-363T>C SNV Uncertain Significance
890653 rs1911498673 GRCh37: 17:29421965-29421965
GRCh38: 17:31094947-31094947
32 NF1 NM_001042492.3(NF1):c.731-6A>C SNV Uncertain Significance
215725 rs369366499 GRCh37: 17:29509520-29509520
GRCh38: 17:31182502-31182502
33 NF1 NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) SNV Uncertain Significance
230614 rs779546178 GRCh37: 17:29553474-29553474
GRCh38: 17:31226456-31226456
34 NF1 NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) SNV Uncertain Significance
141451 rs201047812 GRCh37: 17:29559839-29559839
GRCh38: 17:31232821-31232821
35 NF1 NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) SNV Uncertain Significance
141711 rs138227618 GRCh37: 17:29585395-29585395
GRCh38: 17:31258377-31258377
36 NF1 NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) SNV Uncertain Significance
184710 rs140994965 GRCh37: 17:29653051-29653051
GRCh38: 17:31326033-31326033
37 NF1 NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) SNV Uncertain Significance
231040 rs773378630 GRCh37: 17:29653162-29653162
GRCh38: 17:31326144-31326144
38 NF1 NM_001042492.3(NF1):c.7110C>T (p.His2370=) SNV Uncertain Significance
413033 rs201881479 GRCh37: 17:29670074-29670074
GRCh38: 17:31343056-31343056
39 NF1 NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) SNV Uncertain Significance
484027 rs772543826 GRCh37: 17:29554593-29554593
GRCh38: 17:31227575-31227575
40 NF1 NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) SNV Uncertain Significance
41679 rs201824349 GRCh37: 17:29685632-29685632
GRCh38: 17:31358614-31358614
41 NF1 NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) SNV Uncertain Significance
184320 rs138186428 GRCh37: 17:29562787-29562787
GRCh38: 17:31235769-31235769
42 NF1 NM_001042492.3(NF1):c.7323T>G (p.Ala2441=) SNV Uncertain Significance
413024 rs765750009 GRCh37: 17:29677202-29677202
GRCh38: 17:31350184-31350184
43 NF1 NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) SNV Uncertain Significance
141895 rs146315101 GRCh37: 17:29685568-29685568
GRCh38: 17:31358550-31358550
44 NF1 NM_001042492.3(NF1):c.1866T>C (p.Cys622=) SNV Uncertain Significance
237524 rs753245823 GRCh37: 17:29552133-29552133
GRCh38: 17:31225115-31225115
45 NF1 NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) SNV Uncertain Significance
141844 rs149055633 GRCh37: 17:29679337-29679337
GRCh38: 17:31352319-31352319
46 NF1 NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) SNV Uncertain Significance
216411 rs748027595 GRCh37: 17:29677275-29677275
GRCh38: 17:31350257-31350257
47 NF1 NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) SNV Uncertain Significance
220184 rs377662483 GRCh37: 17:29677233-29677233
GRCh38: 17:31350215-31350215
48 NF1 NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) SNV Uncertain Significance
484003 rs751904277 GRCh37: 17:29657433-29657433
GRCh38: 17:31330415-31330415
49 NF1 NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) SNV Uncertain Significance
404507 rs1060500310 GRCh37: 17:29585389-29585389
GRCh38: 17:31258371-31258371
50 NF1 NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) SNV Uncertain Significance
457669 rs746583007 GRCh37: 17:29562731-29562731
GRCh38: 17:31235713-31235713

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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