Gene: [11q2/PGL1] paraganglioma or familial glomus tumors 1; carotid body tumor-1; [PGL CBT1 ]


HIS

On the basis of isolated data on association carotid body tumor (CBT) with coagulation factor VII, Kroll-1964 and Pfeiffer-1982 proposed that the CBT (PGL1) locus is mapped to chr 13q; this presumption was not confirmed."

REL

GEM:11q131/PGL2.

REF

FOG,PAT "De Angelis &: Neurology, 37, 129-133, 1987
FOG,PAT "Grufferman &: Cancer, 46, 2116-2122, 1980
LIN,LOC,PAT "Heutink P &: Eur J Hum Genet, 2, 148-158, 1994
LIN,LOC,PAT "Heutink P &: Hum Mol Genet, 1, 7-10, 1992
FOG,PHE "Karasov &: Mayo Clin Proc, 57, 590-595, 1982
PAT,FOG,ASS "Kroll &: New Engl J Med, 270, 6-13, 1964
LIN,LOC,PAT "Mariman EC &: Hum Genet, 91, 357-361, 1993
MGC,PND,LIN "Oosterwijk JC &: J Med Genet, 33, 379-383, 1996
FOG,PHE "Parry &: J Nat Cancer Inst, 68, 573-578, 1982
ASS,PAT,FOG "Pfeiffer RA &: Hum Genet, 62, 358-360, 1982
FOG,PHE "van Baars F &: Hum Genet, 60, 305-309, 1982

KEY

neu, derm, onc, card

CLA

unknown, basic

LOC

11 q22.3-23

MIM

MIM: 168000

SYN

PGL CBT1