All individuals with variants in gene MAP3K1

28 entries on 1 page. Showing entries 1 - 28.
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00231267 Fam1 PubMed: Pearlman 2010 5-generation family, 11 affected (5F, 6M) F;M - France - - - - - DSD complete gonadal dysgenesis (2), partial gonadal dysgenesis (4), gonadal tumors (3), first degree hypospadias with chordee (1); micropenis, cryptorchidism, perineal hypospadias (1); perineal hypospadias only (2) 1 11 Johan den Dunnen
00231268 Fam2 PubMed: Pearlman 2010 3-generation family, 5 affected (5F) F - New Zealand - - - - - DSD Complete gonadal dysgenesis 1 5 Johan den Dunnen
00231269 Pat2 PubMed: Pearlman 2010 - F - - - - - - - DSD Complete gonadal dysgenesis 1 1 Johan den Dunnen
00231270 Pat1 PubMed: Pearlman 2010 - F - - - - - - - DSD Complete gonadal dysgenesis 1 1 Johan den Dunnen
00231271 patient PubMed: Loke 2014 - F - - - - - - - DSD see paper; … 46,XY, gonadal dysgenesis 1 1 Johan den Dunnen
00231272 family PubMed: Loke 2014 3-generation family, 3 affected 46,XY females F - - - - - - - DSD see paper; …, gonadal dysgenesis, unvirilized female phenotype and dysgenetic gonads 1 1 Johan den Dunnen
00231273 RDSD014 PubMed: Baxter 2015 - F - United States - - - - - DSD see paper; … 46,XY, complete gonadal dysgenesis 1 1 Johan den Dunnen
00231274 RDSD017 PubMed: Baxter 2015 - F - United States - - - - - DSD see paper; … 46,XY, hypoplastic partial bicornuate uterus with cervix, Fallopian tubes, bilateral streak gonads, tall stature, primary amenorrhea 1 1 Johan den Dunnen
00231275 RDSD023 PubMed: Baxter 2015 - rM - United States - - - - - DSD 46,XY, microphallus, chordee, hypospadias, incompletely fused scrotum, ovotestis with Fallopian tube and partial uterus, contralateral normal testis; familial normal male hormonal profile 1 1 Johan den Dunnen
00231276 CDSD040 PubMed: Baxter 2015 - M - United States - - - - - DSD 46,XY, perineal hypospadias, 2-cm phallus, bifid scrotum, penoscrotal transposition, no Müllerian structures, bilateral descended testes, no gonadal dysgenesis, premature birth, intrauterine growth restriction; SRY present, normal InhB, AMH, T, dihydrotestosterone 1 1 Johan den Dunnen
00231277 Pat13 PubMed: Eggers 2016 - F - - - - - - - DSD see paper; … 46,XY, complete gonadal dysgenesis 1 1 Johan den Dunnen
00231278 Pat249 PubMed: Eggers 2016 - - - - - - - - - DSD see paper; … 46,XY, hypospadias 1 1 Johan den Dunnen
00231279 Pat141 PubMed: Eggers 2016 - - - - - - - - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) 1 1 Johan den Dunnen
00231280 Pat194 PubMed: Eggers 2016 - - - - - - - - - DSD see paper; … 46,XY, partial gonadal dysgenesis 1 1 Johan den Dunnen
00231281 Pat10 PubMed: Eggers 2016 - F - - - - - - - DSD see paper; … 46,XY, complete gonadal dysgenesis 1 1 Johan den Dunnen
00231282 Pat141 PubMed: Eggers 2016 - F - - - - - - - DSD see paper; … 46,XY, complete gonadal dysgenesis 1 1 Johan den Dunnen
00231283 Pat148 PubMed: Eggers 2016 - - - - - - - - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) 1 1 Johan den Dunnen
00231284 Pat175 PubMed: Eggers 2016 - M - - - - - - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) 1 1 Johan den Dunnen
00231285 Pat166 PubMed: Eggers 2016 - M - - - - - - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) 1 1 Johan den Dunnen
00231286 Pat229 PubMed: Eggers 2016 - M - - - - - - - DSD see paper; … 46,XY, hypospadias 1 1 Johan den Dunnen
00231287 Pat214 PubMed: Eggers 2016 - F - - - - - - - DSD see paper; … 46,XY, complete gonadal dysgenesis 1 1 Johan den Dunnen
00231288 Fam1 PubMed: Granados 2017 2-generation family, 2 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) rF - United States white - - - - DSD see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1); gonadal tumor (1) 1 2 Johan den Dunnen
00231289 Fam2 PubMed: Granados 2017 2-generation family, 3 affected 46,XY females, 1 unaffected heterozygous carrier female (46,XX) rF - United States white - - - - DSD see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1) 1 2 Johan den Dunnen
00231290 Pat5 PubMed: Granados 2017 - rF - United States African American - - - - DSD see paper; …, partial gonadal dysgenesis 1 1 Johan den Dunnen
00231291 Pat6 PubMed: Granados 2017 - rF - United States African American - - - - DSD see paper; …, complete gonadal dysgenesis 1 1 Johan den Dunnen
00248239 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 40y breast cancer 1 1 Zdenek Kleibl
00293885 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 167 Mohammed Faruq
00305037 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
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