Gene: [03p2/VHL] von Hippel-Lindau gene; von Hippel-Lindau syndrome; renal cell carcinoma (adenocarcinoma of kidney); [RCC RCC1 ]
COM | [1] An
independent marker RCC (renal cell carcinoma) was previously mapped to
chromosome 3p (p13-11.2). HGM10 excluded this marker from the catalogue,
basing on the report of Tory-1989, whose results suggested that the genetic
background for both von Hippel-Lindau neurohemangioblastoma and
adenocarcinoma of kidney is 'loss of heterozygosity' of the same
oncosupressor gene. The MIM catalogue describes adenocarcinoma of kidney
under MIM:144700, with gene localization in 3p14.2. [2] According to Pericak-Vance-1993, regional localization of VHL gene may be restricted to 3p25." |
LIN | Loci: GEM:03p25/RAF1. [1] VHL is linked with RAF1 (Wells-1987; Seizinger-1988; Tory-1989; Vance-1989). Com. According to Seizinger-1988, Hippel-Lindau syndrome is not related to the mutation of RAF1 gene." |
PAT | The main manifestations of the syndrome are retinal angiomatosis, cerebellar hemangioblastomas, and hypernephroma, which are complicated with detached retina, glaucoma, blindness, ataxia, spastic parapareses, hydrocephaly, and pheochromocytoma as the disease progresses." |
HET | According to
Kovacs-1989, 95% patients with the sporadic nonpapilliferous carcinoma
(nonpapillary adenocarcinoma) of kidney cells exhibit aberrations in
chromosome 3, 48% exhibit the chromosome 5 trisomy (5q22-t), and 45%
exhibit the deletion in chromosome 14 (14q22-t). Therefore, the MIM catalogue included two other markers: RSS2, with a presumed localization in chr 14q (MIM:179760), and RCC3, with a presumed localization in chr 5q (MIM:179770)." |
REL | GEM:00.0/VHLBP1. |
REF | COM,LOC "Carroll PR &: Cancer Genet Cytogenet, 26, 253-259,
1987 MUT "Chen F &: Hum Mut, 5, 66-75, 1995 MUT "Crossey PA &: Hum Mol Genet, 3, 1303-1308, 1994 COD,SEQ,EXP "Duan DR &: PNAS, 92, 6459-6463, 1995a FUN "Duan DR &: Science, 269, 1402-1406, 1995b REV,PAT,MUT,HET "Eng C &: J Med Genet, 32, 934-937, 1995 LIN,EAG,HUM,RAT "Erlandsson &: CCG, 57, N2-3, 149-150, 1991 MUT "Gilcrease MZ &: Hum Pathol, 26, 1341-1346, 1995 MUT "Gross DJ &: J Clin Endocrinol Metab, 81, 147-149, 1996 FUN "Iliopoulos O &: PNAS, 93, 10595-10599, 1996 FUN "Iliopoulos O &: Nature Med, 1, 822-826, 1995 MUT "Kanno H &: Cancer Res, 54, 4845-4847, 1994 FUN "Kibel A &: Science, 269, 1444-1446, 1995 COM,LOC "King CR &: Cancer Genet Cytogenet, 27, 345-348, 1987 LIN,CYG,HET "Kovacs G, Frisch: Cancer Res, 49, 651-659, 1989 COM,LOC "Kovacs G &: PNAS, 85, N5, 1571-1575, 1988 CLO,SEQ,GEN "Latif F &: Science, 260, 1317-1320, 1993 FUN "Lee S &: PNAS, 93, 1770-1775, 1996 REV,PAT "Maddock IR &: J Med Genet, 33, 120-127, 1996 LIN,MAP "Pericak-Vance &: J Med Genet, 30, 487-491, 1993 FUN "Prowse AH &: AJHG, 60, N4, 765-771, 1997 MAP "Richards FM &: Hum Mol Genet, 3, 595-598, 1994 MAP "Richards FM &: J Med Genet, 30, 104-107, 1993 LOC,LIN "Seizinger BR &: Nature, 332, 268-269, 1988 COM,LOC "Szucs S &: Cancer Genet Cytogenet, 26, 369-373, 1987 LOC,LIN "Tory &: CCG, 51, (HGM10), 1092, 1989 LOC,LIN "Vance &: CCG, 51, (HGM10), 1097, 1989 COM,LOC "Wang, Perkins: Cancer Genet Cytogenet, 11, 479-481, 1984 LOC,LIN "Wells &: CCG, 46, (HGM9), 714, 1987 MUT "Zbar B &: Hum Mut, 8, 348-357, 1996 COM,LOC "Zbar B &: Nature, 327, 721-724, 1987 |
SWI | SWISSPROT: P40337 |
KEY | onc, neu, eye, ren |
CLA | coding, basic |
LOC | 03 p26-25 |
MIM | MIM: 193300 |
SYN | RCC RCC1 |
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