Watson syndrome

Watson syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.1
OMIM	193520
DiseasesDB	32244
MeSH	D009456

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.^[1]

Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.^[2]

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 725, 831. ISBN 1-4160-2999-0.
↑ Allanson JE, Upadhyaya M, Watson GH, et al. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?" (PDF). J. Med. Genet. 28 (11): 752–6. PMC 1017110 . PMID 1770531. doi:10.1136/jmg.28.11.752.

Phakomatosis (Q85, 759.5–759.6)
Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease
Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease
Neurofibromatosis	Type I Type II
Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome

Deficiencies of intracellular signaling peptides and proteins

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis
Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2
Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency
Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2
Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Other

See also intracellular signaling peptides and proteins

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