Disease #05597

Official abbreviation DSD
Name disorder of sex development (DSD)
OMIM ID -
Individuals reported having this disease 180
Phenotype entries for this disease 180
Associated with 1 gene MAP3K1
Associated tissues -
Disease features -
Remarks -


Individuals

180 entries on 2 pages. Showing entries 1 - 100.
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00231267 Fam1 PubMed: Pearlman 2010 5-generation family, 11 affected (5F, 6M) F;M - France - - 0 - - 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) MAP3K1 MAP3K1 1 11 Johan den Dunnen
00231268 Fam2 PubMed: Pearlman 2010 3-generation family, 5 affected (5F) F - New Zealand - - 0 - - DSD Complete gonadal dysgenesis MAP3K1 MAP3K1 1 5 Johan den Dunnen
00231269 Pat2 PubMed: Pearlman 2010 - F - - - - 0 - - DSD Complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231270 Pat1 PubMed: Pearlman 2010 - F - - - - 0 - - DSD Complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231271 patient PubMed: Loke 2014 - F - - - - 0 - - DSD see paper; … 46,XY, gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231272 family PubMed: Loke 2014 3-generation family, 3 affected 46,XY females F - - - - 0 - - DSD see paper; …, gonadal dysgenesis, unvirilized female phenotype and dysgenetic gonads MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231273 RDSD014 PubMed: Baxter 2015 - F - United States - - 0 - - DSD see paper; … 46,XY, complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231274 RDSD017 PubMed: Baxter 2015 - F - United States - - 0 - - DSD see paper; … 46,XY, hypoplastic partial bicornuate uterus with cervix, Fallopian tubes, bilateral streak gonads, tall stature, primary amenorrhea MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231275 RDSD023 PubMed: Baxter 2015 - rM - United States - - 0 - - DSD 46,XY, microphallus, chordee, hypospadias, incompletely fused scrotum, ovotestis with Fallopian tube and partial uterus, contralateral normal testis; familial normal male hormonal profile MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231276 CDSD040 PubMed: Baxter 2015 - M - United States - - 0 - - 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 MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231277 Pat13 PubMed: Eggers 2016 - F - - - - 0 - - DSD see paper; … 46,XY, complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231278 Pat249 PubMed: Eggers 2016 - - - - - - 0 - - DSD see paper; … 46,XY, hypospadias MAP3K1, ZFPM2 MAP3K1, ZFPM2 3 1 Johan den Dunnen
00231279 Pat141 PubMed: Eggers 2016 - - - - - - 0 - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231280 Pat194 PubMed: Eggers 2016 - - - - - - 0 - - DSD see paper; … 46,XY, partial gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231281 Pat10 PubMed: Eggers 2016 - F - - - - 0 - - DSD see paper; … 46,XY, complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231282 Pat141 PubMed: Eggers 2016 - F - - - - 0 - - DSD see paper; … 46,XY, complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231283 Pat148 PubMed: Eggers 2016 - - - - - - 0 - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) LHCGR, MAP3K1 LHCGR, MAP3K1 2 1 Johan den Dunnen
00231284 Pat175 PubMed: Eggers 2016 - M - - - - 0 - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231285 Pat166 PubMed: Eggers 2016 - M - - - - 0 - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) MAP3K1, WT1 MAP3K1, WT1 2 1 Johan den Dunnen
00231286 Pat229 PubMed: Eggers 2016 - M - - - - 0 - - DSD see paper; … 46,XY, hypospadias MAP3K1, WDR11 MAP3K1, WDR11 2 1 Johan den Dunnen
00231287 Pat214 PubMed: Eggers 2016 - F - - - - 0 - - DSD see paper; … 46,XY, complete gonadal dysgenesis MAP3K1 MAP3K1 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 - 0 - - DSD see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1); gonadal tumor (1) MAP3K1 MAP3K1 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 - 0 - - DSD see paper; …, complete gonadal dysgenesis (1); partial gonadal dysgenesis (1) MAP3K1 MAP3K1 1 2 Johan den Dunnen
00231290 Pat5 PubMed: Granados 2017 - rF - United States African American - 0 - - DSD see paper; …, partial gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231291 Pat6 PubMed: Granados 2017 - rF - United States African American - 0 - - DSD see paper; …, complete gonadal dysgenesis MAP3K1 MAP3K1 1 1 Johan den Dunnen
00231415 Pat3 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis NR5A1 NR5A1 1 1 Johan den Dunnen
00231416 Pat4 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development HSD3B2 HSD3B2 2 1 Johan den Dunnen
00231417 Pat6 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis ZFPM2 ZFPM2 1 1 Johan den Dunnen
00231418 Pat9 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis SRY SRY 1 1 Johan den Dunnen
00231419 Pat12 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis NR5A1 NR5A1 1 1 Johan den Dunnen
00231420 Pat18 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231421 Pat21 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis SRY SRY 1 1 Johan den Dunnen
00231422 Pat22 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis ZFPM2 ZFPM2 2 1 Johan den Dunnen
00231423 Pat24 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis SRY SRY 1 1 Johan den Dunnen
00231424 Pat25 PubMed: Eggers 2016 - rF - - - - 0 - - DSD complete gonadal dysgenesis DHH DHH 1 1 Johan den Dunnen
00231425 Pat26 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231426 Pat30 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231427 Pat32 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorders of androgen synthesis or action HSD3B2 HSD3B2 2 1 Johan den Dunnen
00231428 Pat35 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231429 Pat37 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231430 Pat38 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231431 Pat39 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development DHH DHH 2 1 Johan den Dunnen
00231432 Pat40 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231433 Pat41 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231434 Pat42 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action DHH DHH 1 1 Johan den Dunnen
00231435 Pat45 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorders of androgen synthesis or action HSD17B3 HSD17B3 2 1 Johan den Dunnen
00231436 Pat46 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231437 Pat47 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action PROK2 PROK2 1 1 Johan den Dunnen
00231438 Pat48 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorders of androgen synthesis or action NR5A1 NR5A1 1 1 Johan den Dunnen
00231439 Pat51 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorders of androgen synthesis or action MAMLD1 MAMLD1 1 1 Johan den Dunnen
00231440 Pat52 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorders of androgen synthesis or action GATA4 GATA4 1 1 Johan den Dunnen
00231441 Pat54 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231442 Pat55 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231443 Pat57 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorders of androgen synthesis or action SRD5A2 SRD5A2 2 1 Johan den Dunnen
00231444 Pat59 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorders of androgen synthesis or action AR AR 1 1 Johan den Dunnen
00231445 Pat61 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231446 Pat63 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development POR POR 1 1 Johan den Dunnen
00231447 Pat64 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231448 Pat66 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development HSD17B3 HSD17B3 1 1 Johan den Dunnen
00231449 Pat68 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231450 Pat69 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development CHD7 CHD7 1 1 Johan den Dunnen
00231451 Pat70 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development MAMLD1 MAMLD1 1 1 Johan den Dunnen
00231452 Pat71 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231453 Pat73 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development CHD7 CHD7 1 1 Johan den Dunnen
00231454 Pat74 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 2 1 Johan den Dunnen
00231455 Pat75 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SRD5A2 SRD5A2 2 1 Johan den Dunnen
00231456 Pat76 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development KAL1 KAL1 1 1 Johan den Dunnen
00231457 Pat77 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development FGF8 FGF8 1 1 Johan den Dunnen
00231458 Pat78 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231459 Pat79 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231460 Pat80 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development ZFPM2 ZFPM2 1 1 Johan den Dunnen
00231461 Pat81 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development HSD17B3 HSD17B3 1 1 Johan den Dunnen
00231462 Pat83 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231463 Pat89 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development PROKR2 PROKR2 1 1 Johan den Dunnen
00231464 Pat91 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231465 Pat94 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development MAMLD1 MAMLD1 1 1 Johan den Dunnen
00231466 Pat96 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231467 Pat97 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development FGFR1 FGFR1 1 1 Johan den Dunnen
00231468 Pat99 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development ZFPM2 ZFPM2 1 1 Johan den Dunnen
00231469 Pat102 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development DHH DHH 1 1 Johan den Dunnen
00231470 Pat103 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231471 Pat106 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SOX9 SOX9 1 1 Johan den Dunnen
00231472 Pat108 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development KAL1 KAL1 1 1 Johan den Dunnen
00231473 Pat115 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development HSD3B2 HSD3B2 1 1 Johan den Dunnen
00231474 Pat116 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231475 Pat117 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SRD5A2 SRD5A2 1 1 Johan den Dunnen
00231476 Pat118 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development DHH DHH 1 1 Johan den Dunnen
00231477 Pat120 PubMed: Eggers 2016 - M - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231478 Pat124 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development MAMLD1 MAMLD1 1 1 Johan den Dunnen
00231479 Pat127 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development SOX9 SOX9 1 1 Johan den Dunnen
00231480 Pat129 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231481 Pat132 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development HSD17B3 HSD17B3 1 1 Johan den Dunnen
00231482 Pat134 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development GATA4 GATA4 1 1 Johan den Dunnen
00231483 Pat135 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231484 Pat136 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development AR AR 1 1 Johan den Dunnen
00231485 Pat143 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development PROKR2 PROKR2 1 1 Johan den Dunnen
00231486 Pat144 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231487 Pat146 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00231488 Pat149 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development, adrenal hypoplasia STAR STAR 2 1 Johan den Dunnen
00231489 Pat153 PubMed: Eggers 2016 - rF - - - - 0 - - DSD disorder of sex development, renal failure WT1 WT1 1 1 Johan den Dunnen
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