Watson Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: WTS001 MIFTS: 24	Watson Syndrome Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 193520

MedGen ⁴² C0553586

MeSH ⁴⁴ D009456

SNOMED-CT via HPO ⁶⁹ 263681008 19133005 81669005 more

UMLS ⁷³ C0553586

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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...

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Related Diseases for Watson Syndrome

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

#	Related Disease	Score
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:

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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 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

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Drugs & Therapeutics for Watson Syndrome

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

MalaCards organs/tissues related to Watson Syndrome:

⁴¹

Testes

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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 )	Foster J.L....Ikonomidis J.S.	2006
2	Evidence of central nervous system involvement in Watson syndrome. ( 7619195 )	LeALo M....da Silva M.L.	1995
3	Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome. ( 7877009 )	Krawinkel M.B....Oldigs H.D.	1994
4	Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. ( 8317503 )	Tassabehji M....Thakker N.	1993
5	Watson syndrome: is it a subtype of type 1 neurofibromatosis? ( 1770531 )	Allanson J.E....Harper P.S.	1991

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Genes for Watson Syndrome

Genes related to Watson Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NF1	Neurofibromin 1	Protein Coding	971.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	1770531

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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

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Expression for Watson Syndrome

Search GEO for disease gene expression data for Watson Syndrome.

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Pathways for Watson Syndrome

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GO Terms for Watson Syndrome

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Sources for Watson Syndrome

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