MCID: WTS001
MIFTS: 24

Watson Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Watson Syndrome

MalaCards integrated aliases for Watson Syndrome:

Name: Watson Syndrome 57 76 53 75 13 55 40
Pulmonic Stenosis with Cafe-Au-Lait Spots 57 53
Cafe-Au-Lait Spots with Pulmonic Stenosis 57 53
Wtsn 57 75
Cafe-Au-Lait Macules with Pulmonary Stenosis 73
Pulmonary Stenosis with Cafe-Au-Lait Spots 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to neurofibromatosis-1 (nf1, )


HPO:

32
watson syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 193520
MedGen 42 C0553586
MeSH 44 D009456
UMLS 73 C0553586

Summaries for Watson Syndrome

NIH Rare Diseases : 53 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). Affiliated tissues include testes, and related phenotypes are axillary freckling and neurofibromas

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 11.8
2 alagille syndrome 2 11.4
3 neurofibromatosis-noonan syndrome 10.9
4 arteries, anomalies of 9.8
5 neurofibromatosis, type i 9.8
6 neurofibromatosis, type iv, of riccardi 9.8
7 noonan syndrome 1 9.8
8 coronary artery anomaly 9.8
9 pseudo-turner syndrome 9.8
10 aneurysm 9.8

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:

57
Growth Height:
short stature

Head And Neck Eyes:
lisch nodules

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

Head And Neck Head:
relative macrocephaly

Cardiovascular Heart:
pulmonary valvular stenosis

Neurologic Central Nervous System:
low iq


Clinical features from OMIM:

193520

Human phenotypes related to Watson Syndrome:

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

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:

41
Testes

Publications for Watson Syndrome

Articles related to Watson Syndrome:

# 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
(show top 50) (show all 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, 80-KB DEL deletion Pathogenic
2 NF1 NF1, 42-BP DUP duplication Pathogenic
3 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
4 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
5 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
6 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
7 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
8 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
9 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
10 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757
11 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh37 Chromosome 17, 29509641: 29509641
12 NF1 NM_001042492.2(NF1): c.846G> A (p.Gln282=) single nucleotide variant Benign/Likely benign rs138840528 GRCh38 Chromosome 17, 31182623: 31182623
13 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh37 Chromosome 17, 29550550: 29550550
14 NF1 NM_001042492.2(NF1): c.1810T> C (p.Leu604=) single nucleotide variant Conflicting interpretations of pathogenicity rs142712751 GRCh38 Chromosome 17, 31223532: 31223532
15 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh37 Chromosome 17, 29553485: 29553485
16 NF1 NM_001042492.2(NF1): c.2034G> A (p.Pro678=) single nucleotide variant Benign/Likely benign rs2285892 GRCh38 Chromosome 17, 31226467: 31226467
17 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh37 Chromosome 17, 29556177: 29556177
18 NF1 NM_001042492.2(NF1): c.2544G> A (p.Gly848=) single nucleotide variant Benign/Likely benign rs17883704 GRCh38 Chromosome 17, 31229159: 31229159
19 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh37 Chromosome 17, 29562948: 29562948
20 NF1 NM_001042492.2(NF1): c.3883A> G (p.Thr1295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143836226 GRCh38 Chromosome 17, 31235930: 31235930
21 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh37 Chromosome 17, 29592271: 29592271
22 NF1 NM_001042492.2(NF1): c.4749A> G (p.Glu1583=) single nucleotide variant Conflicting interpretations of pathogenicity rs144091165 GRCh38 Chromosome 17, 31265253: 31265253
23 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh37 Chromosome 17, 29652853: 29652853
24 NF1 NM_001042492.2(NF1): c.4851A> G (p.Gln1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs150309802 GRCh38 Chromosome 17, 31325835: 31325835
25 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh37 Chromosome 17, 29652884: 29652884
26 NF1 NM_001042492.2(NF1): c.4882T> C (p.Leu1628=) single nucleotide variant Conflicting interpretations of pathogenicity rs10512435 GRCh38 Chromosome 17, 31325866: 31325866
27 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh37 Chromosome 17, 29652931: 29652931
28 NF1 NM_001042492.2(NF1): c.4929G> A (p.Val1643=) single nucleotide variant Benign/Likely benign rs17880521 GRCh38 Chromosome 17, 31325913: 31325913
29 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh37 Chromosome 17, 29663898: 29663898
30 NF1 NM_001042492.2(NF1): c.6393C> T (p.His2131=) single nucleotide variant Benign/Likely benign rs17881788 GRCh38 Chromosome 17, 31336880: 31336880
31 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh37 Chromosome 17, 29664513: 29664513
32 NF1 NM_001042492.2(NF1): c.6555G> A (p.Arg2185=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203189 GRCh38 Chromosome 17, 31337495: 31337495
33 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh37 Chromosome 17, 29667627: 29667627
34 NF1 NM_001042492.2(NF1): c.7026G> A (p.Leu2342=) single nucleotide variant Conflicting interpretations of pathogenicity rs371581213 GRCh38 Chromosome 17, 31340609: 31340609
35 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh37 Chromosome 17, 29676161: 29676161
36 NF1 NM_001042492.2(NF1): c.7213A> G (p.Ile2405Val) single nucleotide variant Uncertain significance rs565708398 GRCh38 Chromosome 17, 31349143: 31349143
37 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh37 Chromosome 17, 29676194: 29676194
38 NF1 NM_001042492.2(NF1): c.7246C> T (p.Leu2416=) single nucleotide variant Conflicting interpretations of pathogenicity rs786201310 GRCh38 Chromosome 17, 31349176: 31349176
39 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh37 Chromosome 17, 29683994: 29683994
40 NF1 NM_001042492.2(NF1): c.7755C> T (p.Ser2585=) single nucleotide variant Benign/Likely benign rs17881980 GRCh38 Chromosome 17, 31356976: 31356976
41 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh37 Chromosome 17, 29684326: 29684326
42 NF1 NM_001042492.2(NF1): c.7909C> T (p.Arg2637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201367 GRCh38 Chromosome 17, 31357308: 31357308
43 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh37 Chromosome 17, 29701152: 29701152
44 NF1 NM_001042492.2(NF1): c.8499T> C (p.Asn2833=) single nucleotide variant Conflicting interpretations of pathogenicity rs142636150 GRCh38 Chromosome 17, 31374134: 31374134
45 NF1 NM_001042492.2(NF1): c.*4T> C single nucleotide variant Benign/Likely benign rs201044568 GRCh37 Chromosome 17, 29701177: 29701177
46 NF1 NM_001042492.2(NF1): c.*4T> C single nucleotide variant Benign/Likely benign rs201044568 GRCh38 Chromosome 17, 31374159: 31374159
47 NF1 NM_000267.3(NF1): c.7807-8C> A single nucleotide variant Uncertain significance rs372441422 GRCh37 Chromosome 17, 29684279: 29684279
48 NF1 NM_000267.3(NF1): c.7807-8C> A single nucleotide variant Uncertain significance rs372441422 GRCh38 Chromosome 17, 31357261: 31357261
49 NF1 NM_000267.3(NF1): c.4661+11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368649260 GRCh37 Chromosome 17, 29588886: 29588886
50 NF1 NM_000267.3(NF1): c.4661+11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368649260 GRCh38 Chromosome 17, 31261868: 31261868

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....