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	gonadal dysgenesis

Disease ID	891
Disease	gonadal dysgenesis
Definition	A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Synonym	dysgenesis, gonadal gonadal dysgenesis (disorder) gonadal dysgenesis [disease/finding] gonadal dysgenesis nos gonadal dysgenesis nos (disorder) gonadal dysgenesis syndrome
DOID	DOID:14447
UMLS	C0018051
MeSH	D006059
SNOMED-CT	SNOMEDCT_US_2016_09_01:205681004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0035078 \| renal failure \| 3 C0013377 \| dysgerminoma \| 2 C0206661 \| gonadoblastoma \| 2 C0021359 \| infertility \| 2 C0025362 \| mental retardation \| 2 C0001623 \| adrenal failure \| 2 C0018784 \| sensorineural deafness \| 2 C0155550 \| neural deafness \| 2 C0085215 \| premature ovarian failure \| 1 C0036631 \| seminoma \| 1 C1861922 \| campomelic dysplasia \| 1 C0003486 \| aortic aneurysm \| 1 C0002453 \| amenorrhea \| 1 C0014038 \| encephalitis \| 1 C0221357 \| brachydactyly \| 1 C0041408 \| turner syndrome \| 1 C0346180 \| malignant ovarian germ cell tumor \| 1 C0022658 \| renal disease \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0027726 \| nephrotic syndrome \| 1 C0008925 \| cleft palate \| 1 C0020619 \| hypogonadism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 50846 \| DHH \| GHR 2516 \| NR5A1 \| GHR 1761 \| DMRT1 \| GHR 190 \| NR0B1 \| GHR 23414 \| ZFPM2 \| GHR 6662 \| SOX9 \| GHR 4214 \| MAP3K1 \| GHR 2332 \| FMR1 \| CTD_human 84733 \| CBX2 \| GHR 6736 \| SRY \| GHR 6473 \| SHOX \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:145) 65057 \| ACD \| 1.019 \| DISEASES 8038 \| ADAM12 \| 1.582 \| DISEASES 174 \| AFP \| 2.85 \| DISEASES 265 \| AMELX \| 3.399 \| DISEASES 367 \| AR \| 3.353 \| DISEASES 415 \| ARSE \| 1.48 \| DISEASES 8623 \| ASMTL \| 2.35 \| DISEASES 546 \| ATRX \| 1.47 \| DISEASES 554 \| AVPR2 \| 1.463 \| DISEASES 85316 \| BAGE5 \| 1.015 \| DISEASES 632 \| BGLAP \| 1.999 \| DISEASES 633 \| BGN \| 1.116 \| DISEASES 60467 \| BPESC1 \| 3.029 \| DISEASES 9083 \| BPY2 \| 1.795 \| DISEASES 442867 \| BPY2B \| 1.795 \| DISEASES 442868 \| BPY2C \| 1.795 \| DISEASES 389073 \| C2orf80 \| 3.01 \| DISEASES 922 \| CD5L \| 1.054 \| DISEASES 4267 \| CD99 \| 1.086 \| DISEASES 203611 \| CDY2B \| 1.855 \| DISEASES 1438 \| CSF2RA \| 1.737 \| DISEASES 128821 \| CST9L \| 2.988 \| DISEASES 1490 \| CTGF \| 1.115 \| DISEASES 80231 \| CXorf21 \| 2.931 \| DISEASES 1586 \| CYP17A1 \| 2.889 \| DISEASES 1617 \| DAZ1 \| 2.877 \| DISEASES 57135 \| DAZ4 \| 2.752 \| DISEASES 8653 \| DDX3Y \| 2.86 \| DISEASES 1730 \| DIAPH2 \| 2.351 \| DISEASES 1756 \| DMD \| 2.289 \| DISEASES 1761 \| DMRT1 \| 4.957 \| DISEASES 80258 \| EFHC2 \| 4.112 \| DISEASES 2018 \| EMX2 \| 1.349 \| DISEASES 2254 \| FGF9 \| 2.992 \| DISEASES 2261 \| FGFR3 \| 1.565 \| DISEASES 2274 \| FHL2 \| 1.206 \| DISEASES 344018 \| FIGLA \| 2.086 \| DISEASES 2316 \| FLNA \| 1.009 \| DISEASES 2332 \| FMR1 \| 2.37 \| DISEASES 27022 \| FOXD3 \| 2.518 \| DISEASES 668 \| FOXL2 \| 3.869 \| DISEASES 6624 \| FSCN1 \| 2.181 \| DISEASES 2492 \| FSHR \| 3.428 \| DISEASES 53940 \| FTHL17 \| 2.273 \| DISEASES 2624 \| GATA2 \| 1.045 \| DISEASES 2626 \| GATA4 \| 2.903 \| DISEASES 2641 \| GCG \| 1.032 \| DISEASES 56287 \| GKN1 \| 1.343 \| DISEASES 2778 \| GNAS \| 1.055 \| DISEASES 2887 \| GRB10 \| 1.824 \| DISEASES 3055 \| HCK \| 1.086 \| DISEASES 390992 \| HES3 \| 1.519 \| DISEASES 164045 \| HFM1 \| 1.761 \| DISEASES 3293 \| HSD17B3 \| 2.103 \| DISEASES 3295 \| HSD17B4 \| 1.764 \| DISEASES 3481 \| IGF2 \| 1.477 \| DISEASES 3483 \| IGFALS \| 1.463 \| DISEASES 3486 \| IGFBP3 \| 3.941 \| DISEASES 8518 \| IKBKAP \| 1.256 \| DISEASES 729920 \| ISPD \| 1.258 \| DISEASES 8284 \| KDM5D \| 1.039 \| DISEASES 7403 \| KDM6A \| 2.504 \| DISEASES 56956 \| LHX9 \| 2.132 \| DISEASES 3980 \| LIG3 \| 1.088 \| DISEASES 4112 \| MAGEB1 \| 1.93 \| DISEASES 28986 \| MAGEH1 \| 1.504 \| DISEASES 10046 \| MAMLD1 \| 2.157 \| DISEASES 4214 \| MAP3K1 \| 3.768 \| DISEASES 84515 \| MCM8 \| 1.655 \| DISEASES 9968 \| MED12 \| 1.946 \| DISEASES 4337 \| MOCS1 \| 1.87 \| DISEASES 4524 \| MTHFR \| 1.235 \| DISEASES 4650 \| MYO9B \| 1.323 \| DISEASES 404635 \| NANOGP1 \| 2.461 \| DISEASES 342977 \| NANOS3 \| 2.242 \| DISEASES 4763 \| NF1 \| 1.026 \| DISEASES 135935 \| NOBOX \| 1.749 \| DISEASES 190 \| NR0B1 \| 4.885 \| DISEASES 8856 \| NR1I2 \| 1.239 \| DISEASES 2516 \| NR5A1 \| 5.687 \| DISEASES 170685 \| NUDT10 \| 1.137 \| DISEASES 115209 \| OMA1 \| 1.232 \| DISEASES 5069 \| PAPPA \| 4.03 \| DISEASES 54704 \| PDP1 \| 3.33 \| DISEASES 5230 \| PGK1 \| 1.254 \| DISEASES 26227 \| PHGDH \| 2.017 \| DISEASES 5255 \| PHKA1 \| 2.074 \| DISEASES 10687 \| PNMA2 \| 1.256 \| DISEASES 8228 \| PNPLA4 \| 2.345 \| DISEASES 28227 \| PPP2R3B \| 1.678 \| DISEASES 11105 \| PRDM7 \| 2.983 \| DISEASES 100169750 \| PRINS \| 2.39 \| DISEASES 5568 \| PRKACG \| 2.388 \| DISEASES 442865 \| PRYP3 \| 1.22 \| DISEASES 29893 \| PSMC3IP \| 2.977 \| DISEASES 26191 \| PTPN22 \| 1.256 \| DISEASES 5813 \| PURA \| 2.092 \| DISEASES 6152 \| RPL24 \| 1.405 \| DISEASES 6191 \| RPS4X \| 4.859 \| DISEASES 284654 \| RSPO1 \| 2.403 \| DISEASES 81929 \| SEH1L \| 2.483 \| DISEASES 57515 \| SERINC1 \| 1.929 \| DISEASES 347735 \| SERINC2 \| 2.392 \| DISEASES 6462 \| SHBG \| 2.72 \| DISEASES 6473 \| SHOX \| 6.923 \| DISEASES 6474 \| SHOX2 \| 3.644 \| DISEASES 8243 \| SMC1A \| 2.398 \| DISEASES 6654 \| SOS1 \| 1.643 \| DISEASES 6658 \| SOX3 \| 1.855 \| DISEASES 23626 \| SPO11 \| 1.723 \| DISEASES 6736 \| SRY \| 7.244 \| DISEASES 246744 \| STH \| 1.463 \| DISEASES 8675 \| STX16 \| 1.32 \| DISEASES 64426 \| SUDS3 \| 1.625 \| DISEASES 8464 \| SUPT3H \| 2.747 \| DISEASES 93426 \| SYCE1 \| 2.184 \| DISEASES 90665 \| TBL1Y \| 1.782 \| DISEASES 6925 \| TCF4 \| 1.146 \| DISEASES 6932 \| TCF7 \| 1.054 \| DISEASES 57393 \| TMEM27 \| 1.518 \| DISEASES 1861 \| TOR1A \| 1.258 \| DISEASES 7258 \| TSPY1 \| 5.324 \| DISEASES 100289087 \| TSPY10 \| 5.174 \| DISEASES 7259 \| TSPYL1 \| 3.154 \| DISEASES 50858 \| TTTY1 \| 2.986 \| DISEASES 60439 \| TTTY2 \| 2.725 \| DISEASES 7317 \| UBA1 \| 1.984 \| DISEASES 8287 \| USP9Y \| 3.396 \| DISEASES 10813 \| UTP14A \| 2.519 \| DISEASES 7404 \| UTY \| 3.16 \| DISEASES 8409 \| UXT \| 1.83 \| DISEASES 30813 \| VSX1 \| 1.082 \| DISEASES 57728 \| WDR19 \| 1.734 \| DISEASES 7490 \| WT1 \| 4.631 \| DISEASES 7499 \| XG \| 1.484 \| DISEASES 7503 \| XIST \| 5.118 \| DISEASES 8565 \| YARS \| 2.103 \| DISEASES 57623 \| ZFAT \| 2.02 \| DISEASES 23414 \| ZFPM2 \| 3.545 \| DISEASES 10771 \| ZMYND11 \| 1.744 \| DISEASES 10782 \| ZNF274 \| 2.86 \| DISEASES 347344 \| ZNF81 \| 2.112 \| DISEASES 7789 \| ZXDA \| 3.791 \| DISEASES 158586 \| ZXDB \| 3.995 \| DISEASES 7791 \| ZYX \| 1.041 \| DISEASES
Locus	(Waiting for update.)

Disease ID	891
Disease	gonadal dysgenesis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0012245 \| Sex reversal \| 4 HP:0000083 \| Renal insufficiency \| 3 HP:0002664 \| Neoplasia \| 3 HP:0000150 \| Gonadoblastoma \| 2 HP:0000786 \| Primary amenorrhea \| 2 HP:0000789 \| Infertility \| 2 HP:0001249 \| Mental retardation \| 2 HP:0000407 \| sensorineural hearing loss \| 2 HP:0100621 \| Dysgerminoma \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0000141 \| Abnormal absence of menstruation \| 2 HP:0002383 \| Encephalitis \| 1 HP:0008209 \| Premature ovarian failure \| 1 HP:0000047 \| Hypospadias \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0000100 \| Nephrosis \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0001156 \| Brachydactyly \| 1 HP:0000815 \| Primary hypogonadism \| 1 HP:0012588 \| Steroid-resistant nephrotic syndrome \| 1 HP:0001374 \| Congenital hip dislocation \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0000133 \| Mixed gonadal dysgenesis \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001587 \| Primary ovarian insufficiency \| 1 HP:0000135 \| Hypogonadism \| 1 HP:0000013 \| Underdeveloped uterus \| 1 HP:0100728 \| Germ cell neoplasia \| 1

Disease ID	891
Disease	gonadal dysgenesis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:24) C2697402 \| hypogonadotropic hypogonadism C2219717 \| amenorrhea C1420725 \| thymoma C1368683 \| epithelial tumour C1153706 \| adenocarcinoma of the endometrium C0920350 \| hashimoto's thyroiditis C0476089 \| endometrial carcinoma C0376293 \| stigmata C0345335 \| multicystic kidney C0334524 \| mixed germ cell tumor C0279668 \| adenocarcinoma of the vagina C0271606 \| primary ovarian failure C0232940 \| secondary amenorrhea C0232939 \| primary amenorrhea C0221406 \| cushing's disease C0206661 \| gonadoblastoma C0206650 \| fibroadenoma C0020676 \| hypothyroidism C0015799 \| feminization C0014175 \| endometriosis C0014173 \| endometrial hyperplasia C0011849 \| diabetes mellitus C0003496 \| aortic rupture C0001080 \| achondroplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0232939 \| primary amenorrhea \| 2 C0206661 \| gonadoblastoma \| 2 C0002453 \| amenorrhea \| 2 C0271606 \| primary ovarian failure \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894118	15472171	2516	NR5A1	umls:C0018051	BeFree	Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency.	0.005438769	2004	NR5A1	9	124500196	C	A
rs104894119	15472171	2516	NR5A1	umls:C0018051	BeFree	Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency.	0.005438769	2004	NR5A1	9	124500685	C	T
rs104894966	8105086	6736	SRY	umls:C0018051	BeFree	A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.	0.017130633	1993	SRY	Y	2787267	C	T
rs104894971	9521592	6736	SRY	umls:C0018051	BeFree	A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.	0.017130633	1998	SRY	Y	2787551	C	T
rs104894972	10852465	6736	SRY	umls:C0018051	BeFree	Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.	0.017130633	2000	SRY	Y	2787320	C	T
rs121918654	15472171	2516	NR5A1	umls:C0018051	BeFree	Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency.	0.005438769	2004	NA	NA	NA	NA	NA
rs121918655	20453312	2516	NR5A1	umls:C0018051	BeFree	Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.	0.005438769	2010	NR5A1	9	124493143	C	T
rs121918655	20453312	6736	SRY	umls:C0018051	BeFree	Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.	0.017130633	2010	NR5A1	9	124493143	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	891
Disease	gonadal dysgenesis
Case	(Waiting for update.)

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