Watson syndrome

Watson syndrome
Watson syndrome
Classification and external resources
OMIM 193520
DiseasesDB 32244
MeSH D009456

Watson syndrome is an autosomal recessive condition characterized by Lisch nodules, axillary/inguinal freckling, and neurofibromas.[1]

Watson syndrome may be allelic to NF1, the same gene associated with Neurofibromatosis type 1.[2]

See also

References

  1. ^ 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. 
  2. ^ 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. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531. http://jmg.bmj.com/content/28/11/752.full.pdf. 
v · d · eDeficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1
G protein
MAP kinase
Other kinase/phosphatase
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)
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)
Signal transducing adaptor proteins
Other
NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)
see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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