46,xy Partial Gonadal Dysgenesis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Orphanet: ⁵⁸ A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.

MalaCards based summary: 46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to hypospadias and mixed gonadal dysgenesis. An important gene associated with 46,xy Partial Gonadal Dysgenesis is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Nervous system development and Development Endothelin-1/EDNRA transactivation of EGFR. Affiliated tissues include testis, ovary and heart, and related phenotypes are osteoporosis and primary amenorrhea

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Related Diseases for 46,xy Partial Gonadal Dysgenesis

Diseases related to 46,xy Partial Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)

#	Related Disease	Score	Top Affiliating Genes
1	hypospadias	30.3	WT1 SRY SOX9 NR5A1 GATA4
2	mixed gonadal dysgenesis	30.2	SRY SOX9 NR5A1 NR0B1
3	46,xx sex reversal 1	30.2	SRY SOX9 NR5A1 NR0B1
4	46,xy sex reversal 2	30.0	WT1 SOX9 NR5A1 NR0B1
5	gonadal dysgenesis	29.9	ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
6	azoospermia	29.7	WT1 NR5A1 NR0B1 GATA4
7	premature menopause	29.7	WT1 SOX9 NR5A1 NR0B1 DMRT3
8	46,xy sex reversal	28.9	ZFPM2 WT1 SRY SOX9 PROP1 NR5A1
9	disorder of sexual development	28.6	ZFPM2 WT1 SRY SOX9 SOS1 NR5A1
10	cryptorchidism, unilateral or bilateral	28.5	ZFPM2 WT1 SOX9 SOS1 PROP1 OTX2
11	down syndrome	10.8
12	turner syndrome	10.8
13	46,xy sex reversal 7	10.4
14	46,xy sex reversal 3	10.3	NR5A1 GATA4
15	syndrome with 46,xy disorder of sex development	10.3	SRY NR5A1
16	46,xy sex reversal 4	10.2
17	chromosome 9p deletion syndrome	10.2
18	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
19	46,xy sex reversal 1	10.2
20	46,xy gonadal dysgenesis with minifascicular neuropathy	10.2
21	male infertility	10.2
22	polyneuropathy	10.2
23	amenorrhea	10.2
24	endometriosis	10.2
25	neuropathy	10.2
26	learning disability	10.2
27	y chromosome infertility	10.2
28	anorchia	10.2
29	partial deletion of y	10.2
30	46,xy sex reversal 11	10.2	SRY DHX37
31	testicular thecoma	10.2	ZFPM2 GATA4
32	spermatogenic failure 8	10.2	NR5A1 DMRT3
33	combined pituitary hormone deficiencies, genetic forms	10.1	PROP1 OTX2
34	adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	10.1	NR5A1 NR0B1
35	diaphragmatic eventration	10.1	ZFPM2 GATA4
36	corticosterone methyloxidase type i deficiency	10.1	NR5A1 NR0B1
37	craniopharyngioma	10.1	SOX9 PROP1 NR5A1
38	tricuspid atresia	10.1	ZFPM2 GATA4
39	testicular fibroma	10.1	WT1 NR5A1
40	ovarian sex-cord stromal tumor	10.1	WT1 NR5A1
41	juvenile type testicular granulosa cell tumor	10.1	WT1 NR5A1
42	pituitary hypoplasia	10.1	PROP1 OTX2
43	steroid inherited metabolic disorder	10.1	NR5A1 NR0B1
44	androgen insensitivity, partial	10.0	NR5A1 NR0B1
45	17-beta hydroxysteroid dehydrogenase iii deficiency	10.0	SOX9 NR5A1 NR0B1
46	adrenal cortical hypofunction	10.0	NR5A1 NR0B1
47	complete androgen insensitivity syndrome	10.0	SRY NR5A1 NR0B1
48	androgen insensitivity syndrome	10.0	SRY NR5A1 NR0B1
49	adrenal hypoplasia, congenital	10.0	NR5A1 NR0B1
50	inguinal hernia	10.0	WT1 NR5A1 GATA4

Graphical network of the top 20 diseases related to 46,xy Partial Gonadal Dysgenesis:

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Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

Human phenotypes related to 46,xy Partial Gonadal Dysgenesis:

⁵⁸ ³⁰ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	osteoporosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000939
2	primary amenorrhea ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000786
3	micropenis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000054
4	azoospermia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000027
5	hypospadias ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000047
6	gynecomastia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000771
7	decreased testicular size ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008734
8	ambiguous genitalia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000062
9	urogenital sinus anomaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100779
10	hypergonadotropic hypogonadism ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000815
11	gonadal dysgenesis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000133
12	abnormality of the scrotum ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000045
13	sparse axillary hair ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002215
14	sparse pubic hair ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002225
15	male infertility ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003251
16	decreased serum estradiol ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008214
17	streak ovary ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010464
18	hypoplasia of the vagina ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008726
19	decreased fertility in females ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000868
20	elevated circulating follicle stimulating hormone level ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008232
21	female external genitalia in individual with 46,xy karyotype ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008730
22	elevated circulating luteinizing hormone level ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011969
23	abnormal sex determination ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012244
24	vanishing testis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012870
25	clitoral hypertrophy ³⁰	Hallmark (90%)		HP:0008665
26	decreased serum testosterone concentration ³⁰	Hallmark (90%)		HP:0040171
27	abnormal labia morphology ³⁰	Hallmark (90%)		HP:0000058
28	delayed puberty ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000823
29	cryptorchidism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000028
30	delayed skeletal maturation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002750
31	adrenal insufficiency ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000846
32	primary gonadal insufficiency ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008193
33	testicular gonadoblastoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000030
34	ovarian gonadoblastoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000149
35	absence of secondary sex characteristics ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008187
36	nephrotic syndrome ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0000100
37	nephroblastoma ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002667
38	abnormality of cardiovascular system morphology ³⁰	Very rare (1%)		HP:0030680
39	malformation of the heart and great vessels ⁵⁸		Very rare (<4-1%)
40	increased circulating gonadotropin level ⁵⁸		Very frequent (99-80%)
41	gonadoblastoma ⁵⁸		Frequent (79-30%)
42	hypoplasia of penis ⁵⁸		Very frequent (99-80%)
43	clitoromegaly ⁵⁸		Very frequent (99-80%)
44	abnormality of the vagina ⁵⁸		Very frequent (99-80%)
45	abnormal internal genitalia ⁵⁸		Very frequent (99-80%)
46	abnormality of the labia ⁵⁸		Very frequent (99-80%)
47	decreased testosterone in males ⁵⁸		Very frequent (99-80%)

GenomeRNAi Phenotypes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

²⁵ (show all 34)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.98	WT1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.98	NR5A1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.98	WWOX DMRT3
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.98	DMRT3
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.98	DMRT3
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.98	WWOX
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.98	WT1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	9.98	MAP3K1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-13	9.98	DMRT3
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.98	MAP3K1 NR5A1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.98	WWOX WT1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.98	WT1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.98	WWOX
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.98	MAP3K1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.98	WWOX
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.98	NR5A1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-184	9.98	NR5A1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	9.98	WWOX
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.98	NR5A1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.98	DMRT3
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.98	WT1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-22	9.98	MAP3K1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-30	9.98	WT1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-33	9.98	DMRT3
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.98	NR5A1
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.98	WT1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.98	WT1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.98	MAP3K1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.98	WWOX
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-8	9.98	DMRT3
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.98	MAP3K1
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.98	MAP3K1 WT1
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-86	9.98	WWOX
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-91	9.98	MAP3K1

MGI Mouse Phenotypes related to 46,xy Partial Gonadal Dysgenesis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.22	GATA4 MAP3K1 NR0B1 NR5A1 OTX2 PROP1
2	nervous system	MP:0003631	10.16	DMRT3 GATA4 MAP3K1 NR5A1 OTX2 PROP1
3	endocrine/exocrine gland	MP:0005379	10.11	GATA4 NR0B1 NR5A1 OTX2 PROP1 SOS1
4	cellular	MP:0005384	10.06	GATA4 MAP3K1 NR0B1 NR5A1 OTX2 SOS1
5	muscle	MP:0005369	9.98	GATA4 MAP3K1 OTX2 SOS1 SOX9 WT1
6	cardiovascular system	MP:0005385	9.91	GATA4 MAP3K1 NR5A1 OTX2 SOS1 SOX9
7	reproductive system	MP:0005389	9.9	DMRT3 GATA4 NR0B1 NR5A1 OTX2 PROP1
8	skeleton	MP:0005390	9.56	DMRT3 GATA4 MAP3K1 NR0B1 OTX2 SOS1
9	mortality/aging	MP:0010768	9.44	DHX37 DMRT3 GATA4 MAP3K1 NR5A1 OTX2

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Drugs & Therapeutics for 46,xy Partial Gonadal Dysgenesis

Search Clinical Trials, NIH Clinical Center for 46,xy Partial Gonadal Dysgenesis

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Genetic Tests for 46,xy Partial Gonadal Dysgenesis

Genetic tests related to 46,xy Partial Gonadal Dysgenesis:

#	Genetic test	Affiliating Genes
1	46,xy Partial Gonadal Dysgenesis ²⁸

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Anatomical Context for 46,xy Partial Gonadal Dysgenesis

Organs/tissues related to 46,xy Partial Gonadal Dysgenesis:

MalaCards : Testis, Ovary, Heart

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Publications for 46,xy Partial Gonadal Dysgenesis

Articles related to 46,xy Partial Gonadal Dysgenesis:

(show all 32)

#	Title	Authors	PMID	Year
1	NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. ⁶² ⁵	Laan M...Punab M	33296094	2021
2	Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment. ⁶²	Finlayson C...Gomez-Lobo V	35296452	2022
3	MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis. ⁶²	Calonga-Solis V...Werner R	36013096	2022
4	A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene. ⁶²	Xu K...Cheng X	33457310	2020
5	[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations]. ⁶²	Kalinchenko NY...Tiulpakov AN	33351340	2020
6	Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis. ⁶²	Tang R...Chen R	30922653	2019
7	Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis. ⁶²	Zong X...Guo LN	30992672	2019
8	Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. ⁶²	Gomes NL...Mendonca BB	29668062	2018
9	Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. ⁶²	Huang H...Tian Q	27862157	2017
10	408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. ⁶²	De Paula GB...Guerra-Junior G	28018429	2016
11	NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ⁶²	Fabbri HC...de Mello MP	27463801	2016
12	Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. ⁶²	Gabriel Ribeiro de Andrade J...Maciel-Guerra AT	25580123	2014
13	Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. ⁶²	dos Santos AP...Maciel-Guerra AT	24192396	2013
14	In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. ⁶²	Castro JJ...Canto P	23786321	2013
15	The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? ⁶²	Ocal G...Fitoz S	22644991	2012
16	Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours. ⁶²	Capito C...Heloury Y	21402494	2011
17	46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. ⁶²	Capito C...Heloury Y	20153258	2011
18	Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. ⁶²	Mello MP...Guerra-Junior G	21340164	2010
19	[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)]. ⁶²	Iraqi N...Bouhafs MA	20097326	2010
20	Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. ⁶²	Kohler B...Achermann JC	17694559	2008
21	Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. ⁶²	Vinci G...McElreavey K	17644778	2007
22	Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. ⁶²	Canto P...Mendez JP	15356051	2004
23	Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis. ⁶²	Mazza V...Forabosco A	12975780	2003
24	Management of 46, XY partial gonadal dysgenesis--revisited. ⁶²	Crone J...Fekete CN	12422582	2002
25	Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. ⁶²	Umehara F...Osame M	11990454	2002
26	A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. ⁶²	Umehara F...Osame M	11017805	2000
27	Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ⁶²	Veitia RA...Lavinha J	9718353	1998
28	Abnormalities of gonadal differentiation. ⁶²	Berkovitz GD...Seeherunvong T	9890065	1998
29	Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. ⁶²	Fuqua JS...Berkovitz GD	8954063	1996
30	Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. ⁶²	McElreavey K...Berkovitz GD	8710915	1996
31	Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. ⁶²	Fechner PY...Berkovitz GD	8496317	1993
32	Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. ⁶²	Berkovitz GD...Perlman EJ	1956279	1991

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Genes for 46,xy Partial Gonadal Dysgenesis

Genes related to 46,xy Partial Gonadal Dysgenesis (13 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	757.89	Pathogenic ⁵ Causative germline mutation ⁵⁸ GeneCards inferred via : Publications (show sections)	33296094 25580123
2	PROP1	PROP Paired-Like Homeobox 1	Protein Coding	400	Pathogenic ⁵	33296094
3	DHX37	DEAH-Box Helicase 37	Protein Coding	350	Causative germline mutation ⁵⁸	31337883
4	GATA4	GATA Binding Protein 4	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	21220346
5	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	350	Causative germline mutation ⁵⁸	21129722
6	SOX9	SRY-Box Transcription Factor 9	Protein Coding	350	Causative germline mutation ⁵⁸	22051515
7	SRY	Sex Determining Region Y	Protein Coding	350	Causative germline mutation ⁵⁸	17493621
8	WWOX	WW Domain Containing Oxidoreductase	Protein Coding	350	Causative germline mutation ⁵⁸	22071891
9	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	350	Causative germline mutation ⁵⁸	24549039
10	DMRT3	Doublesex And Mab-3 Related Transcription Factor 3	Protein Coding	25	Candidate gene tested ⁵⁸	17644778
11	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	25	Role in the phenotype ⁵⁸	18384427
12	VAMP7	Vesicle Associated Membrane Protein 7	Protein Coding	25	Role in the phenotype ⁵⁸	24880616
13	WT1	WT1 Transcription Factor	Protein Coding	25	Candidate gene tested ⁵⁸	25613702
14	OTX2	Orthodenticle Homeobox 2	Protein Coding	25	Likely pathogenic ⁵	33296094
15	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	25	Likely pathogenic ⁵	33296094

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Variations for 46,xy Partial Gonadal Dysgenesis

ClinVar genetic disease variations for 46,xy Partial Gonadal Dysgenesis:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NR5A1	NM_004959.5(NR5A1):c.991-1G>C	SNV	Pathogenic	1691445		GRCh37: 9:127253508-127253508 GRCh38: 9:124491229-124491229
2	PROP1	NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	MICROSAT	Pathogenic	8098	rs193922688	GRCh37: 5:177421147-177421148 GRCh38: 5:177994146-177994147
3	SOS1	NM_005633.4(SOS1):c.406T>C (p.Tyr136His)	SNV	Likely Pathogenic	1691446		GRCh37: 2:39283947-39283947 GRCh38: 2:39056806-39056806
4	OTX2	NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	SNV	Likely Pathogenic	803030	rs199761861	GRCh37: 14:57268922-57268922 GRCh38: 14:56802204-56802204

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Expression for 46,xy Partial Gonadal Dysgenesis

Search GEO for disease gene expression data for 46,xy Partial Gonadal Dysgenesis.

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Pathways for 46,xy Partial Gonadal Dysgenesis

Pathways related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.22	ZFPM2 WT1 SRY SOX9 SOS1 NR5A1
2	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	11.72	SOS1 MAP3K1 GATA4
3	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.58	WT1 SOX9 OTX2 GATA4
4	Mammalian disorder of sexual development ⁷⁴ Show member pathways Somatic sex determination ⁷⁴ Transcriptional regulation of testis differentiation ⁶⁶	10.79	ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
5	MAP3K1 role in promoting and blocking gonadal determination ⁷⁴	10.34	SRY SOX9 MAP3K1

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GO Terms for 46,xy Partial Gonadal Dysgenesis

Cellular components related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.58	ZFPM2 SRY SOX9 PROP1 OTX2 NR5A1

Biological processes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.4	ZFPM2 WT1 SOX9 SOS1 PROP1 OTX2
2	negative regulation of transcription by RNA polymerase II	GO:0000122	10.37	ZFPM2 WT1 SRY SOX9 PROP1 NR0B1
3	positive regulation of transcription by RNA polymerase II	GO:0045944	10.36	ZFPM2 WWOX WT1 SRY SOX9 PROP1
4	positive regulation of DNA-templated transcription	GO:0045893	10.26	ZFPM2 WT1 SRY SOX9 OTX2 NR5A1
5	regulation of DNA-templated transcription	GO:0006355	10.2	DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
6	heart development	GO:0007507	10.11	ZFPM2 WT1 SOX9 GATA4
7	male gonad development	GO:0008584	9.96	WT1 SOX9 NR5A1 NR0B1 GATA4
8	tissue development	GO:0009888	9.91	GATA4 NR5A1 WT1
9	adrenal gland development	GO:0030325	9.91	WT1 NR5A1 NR0B1
10	gonad development	GO:0008406	9.88	WT1 NR0B1
11	Leydig cell differentiation	GO:0033327	9.86	NR5A1 NR0B1
12	Sertoli cell differentiation	GO:0060008	9.85	SOX9 NR5A1 NR0B1
13	intestinal epithelial cell differentiation	GO:0060575	9.84	SOX9 GATA4
14	sex determination	GO:0007530	9.72	NR0B1 NR5A1 WT1
15	negative regulation of female gonad development	GO:2000195	9.63	ZFPM2 WT1 NR5A1
16	system development	GO:0048731	9.55	ZFPM2 GATA4
17	male sex determination	GO:0030238	9.5	SRY SOX9 NR5A1 NR0B1
18	positive regulation of male gonad development	GO:2000020	9.4	ZFPM2 WT1 SRY SOX9 NR5A1 DHX37

Molecular functions related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	10.1	WT1 SOX9 PROP1 OTX2 GATA4
2	sequence-specific double-stranded DNA binding	GO:1990837	10.1	DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.06	DMRT3 GATA4 NR5A1 OTX2 PROP1 SOX9
4	sequence-specific DNA binding	GO:0043565	10.02	WT1 SOX9 NR5A1 GATA4 DMRT3
5	DNA-binding transcription factor activity	GO:0003700	9.91	WT1 SRY SOX9 OTX2 NR5A1 GATA4
6	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	9.86	WT1 SRY SOX9 PROP1 OTX2 NR5A1
7	DNA binding	GO:0003677	9.47	ZFPM2 WT1 SRY SOX9 SOS1 PROP1

Sources

Sources for 46,xy Partial Gonadal Dysgenesis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: 46X012 MIFTS: 42	46,xy Partial Gonadal Dysgenesis Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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46,xy Partial Gonadal Dysgenesis

Aliases & Classifications for 46,xy Partial Gonadal Dysgenesis

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Summaries for 46,xy Partial Gonadal Dysgenesis

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Diseases related to 46,xy Partial Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to 46,xy Partial Gonadal Dysgenesis:

Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

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Genes related to 46,xy Partial Gonadal Dysgenesis (13 elite genes):

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Sources for 46,xy Partial Gonadal Dysgenesis