WTSN
MCID: WTS001
MIFTS: 24

Watson Syndrome (WTSN)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Watson Syndrome

MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 58 77 54 76 38 13 56 41
Pulmonic Stenosis with Cafe-Au-Lait Spots 58 54
Cafe-Au-Lait Spots with Pulmonic Stenosis 58 54
Wtsn 58 76
Cafe-Au-Lait Macules with Pulmonary Stenosis 74
Pulmonary Stenosis with Cafe-Au-Lait Spots 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )


HPO:

33
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 193520
KEGG 38 H02188
MeSH 45 D009456
MedGen 43 C0553586
UMLS 74 C0553586

Summaries for Watson Syndrome

NIH Rare Diseases : 54 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.

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 testes, and related phenotypes are short stature and abnormality of the cardiovascular system

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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:

# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 12.0
2 alagille syndrome 2 11.6
3 neurofibromatosis-noonan syndrome 11.1
4 arteries, anomalies of 9.9
5 neurofibromatosis, type i 9.9
6 neurofibromatosis, type iv, of riccardi 9.9
7 noonan syndrome 1 9.9
8 coronary artery anomaly 9.9
9 pseudo-turner syndrome 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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 abnormality of the cardiovascular system 33 HP:0001626
3 multiple cafe-au-lait spots 33 HP:0007565
4 relative macrocephaly 33 HP:0004482
5 neurofibromas 33 HP:0001067
6 axillary freckling 33 HP:0000997
7 lisch nodules 33 HP:0009737

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Head And Neck Head:
relative macrocephaly

Head And Neck Eyes:
lisch nodules

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

Cardiovascular Heart:
pulmonary valvular stenosis

Neurologic Central Nervous System:
low iq

Clinical features from OMIM:

193520

Drugs & Therapeutics for Watson Syndrome

Search Clinical Trials , NIH Clinical Center for Watson Syndrome

Genetic Tests for Watson Syndrome

Anatomical Context for Watson Syndrome

MalaCards organs/tissues related to Watson Syndrome:

42
Testes

Publications for Watson Syndrome

Articles related to Watson Syndrome:

# Title Authors Year
1
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. ( 17160901 )
2007
2
Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. ( 16863806 )
2006
3
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. ( 16542390 )
2006
4
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. ( 14569132 )
2003
5
Evidence of central nervous system involvement in Watson syndrome. ( 7619195 )
1995
6
Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. ( 7877009 )
1994
7
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. ( 8317503 )
1993
8
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. ( 1568246 )
1992
9
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. ( 1302608 )
1992
10
Watson syndrome: is it a subtype of type 1 neurofibromatosis? ( 1770531 )
1991

Variations for Watson Syndrome

ClinVar genetic disease variations for Watson Syndrome:

6 (show top 50) (show all 250)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
2 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
3 NF1 NF1, 42-BP DUP duplication Pathogenic
4 NF1 NF1, 80-KB DEL deletion Pathogenic
5 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
6 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh38 Chromosome 17, 31334927: 31334927
7 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
8 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
9 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh37 Chromosome 17, 29556218: 29556218
10 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh38 Chromosome 17, 31229200: 31229200
11 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh37 Chromosome 17, 29653037: 29653037
12 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh38 Chromosome 17, 31326019: 31326019
13 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh37 Chromosome 17, 29496957: 29496957
14 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh38 Chromosome 17, 31169939: 31169939
15 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh37 Chromosome 17, 29685632: 29685632
16 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh38 Chromosome 17, 31358614: 31358614
17 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
18 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh38 Chromosome 17, 31235729: 31235729
19 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh37 Chromosome 17, 29684308: 29684308
20 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh38 Chromosome 17, 31357290: 31357290
21 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh38 Chromosome 17, 31225182: 31225182
22 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh37 Chromosome 17, 29552200: 29552200
23 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh37 Chromosome 17, 29686024: 29686024
24 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh38 Chromosome 17, 31359006: 31359006
25 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh37 Chromosome 17, 29490255: 29490255
26 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh38 Chromosome 17, 31163237: 31163237
27 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh37 Chromosome 17, 29497004: 29497004
28 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh38 Chromosome 17, 31169986: 31169986
29 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh37 Chromosome 17, 29560127: 29560127
30 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh38 Chromosome 17, 31233109: 31233109
31 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh37 Chromosome 17, 29679337: 29679337
32 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh38 Chromosome 17, 31352319: 31352319
33 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh37 Chromosome 17, 29528158: 29528158
34 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh38 Chromosome 17, 31201140: 31201140
35 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh37 Chromosome 17, 29684006: 29684006
36 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh38 Chromosome 17, 31356988: 31356988
37 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh37 Chromosome 17, 29654761: 29654761
38 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh38 Chromosome 17, 31327743: 31327743
39 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
40 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
41 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
42 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
43 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
44 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
45 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
46 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
47 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
48 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
49 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
50 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467

Expression for Watson Syndrome

Search GEO for disease gene expression data for Watson Syndrome.

Pathways for Watson Syndrome

Pathways related to Watson Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010

GO Terms for Watson Syndrome

Sources for Watson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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