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MCID: 46X012
MIFTS: 41

46,xy Partial Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for 46,xy Partial Gonadal Dysgenesis

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MalaCards integrated aliases for 46,xy Partial Gonadal Dysgenesis:

Name: 46,xy Partial Gonadal Dysgenesis 58
46,xy Partial Testicular Dysgenesis 58
46,xy Pgd 58

Characteristics:

Orphanet epidemiological data:

58
46,xy partial gonadal dysgenesis
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for 46,xy Partial Gonadal Dysgenesis

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MalaCards based summary : 46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to anorchia and hypospadias. An important gene associated with 46,xy Partial Gonadal Dysgenesis is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 anorchia 30.4 SRY NR5A1 DHX37
2 hypospadias 30.3 WT1 SRY SOX9 NR5A1
3 mixed gonadal dysgenesis 30.2 SRY SOX9 NR5A1 DHH
4 46,xy sex reversal 2 29.8 WT1 SOX9 NR5A1 NR0B1
5 nonsyndromic disorders of testicular development 29.7 SRY NR5A1 NR0B1 MAP3K1 DHH
6 disorder of sexual development 29.6 WT1 SOX9 NR5A1 NR0B1 DHH
7 premature menopause 29.3 WT1 SOX9 NR5A1 NR0B1 DMRT3
8 gonadal dysgenesis 29.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
9 cryptorchidism, unilateral or bilateral 29.2 ZFPM2 WT1 SOX9 NR5A1 NR0B1 GATA4
10 46,xy sex reversal 27.6 ZFPM2-AS1 ZFPM2 WT1 SRY SOX9 NR5A1
11 46,xy sex reversal 7 10.4
12 azoospermia 10.4
13 46,xy sex reversal 4 10.2
14 chromosome 9p deletion syndrome 10.2
15 46,xy sex reversal 1 10.2
16 46,xy gonadal dysgenesis with minifascicular neuropathy 10.2
17 male infertility 10.2
18 polyneuropathy 10.2
19 amenorrhea 10.2
20 endometriosis 10.2
21 turner syndrome 10.2
22 infertility 10.2
23 neuropathy 10.2
24 learning disability 10.2
25 partial deletion of y 10.2
26 posterior hypospadias 10.2
27 46,xy sex reversal 3 10.2 NR5A1 GATA4
28 46,xy sex reversal 11 10.2 SRY DHX37
29 testicular thecoma 10.2 ZFPM2 GATA4
30 diaphragmatic hernia 3 10.2 ZFPM2-AS1 ZFPM2
31 tricuspid atresia 10.1 ZFPM2 GATA4
32 microcystic stromal tumor 10.1 WT1 NR5A1
33 diaphragm disease 10.1 ZFPM2 GATA4
34 ovarian sex-cord stromal tumor 10.1 WT1 NR5A1
35 spermatogenic failure 8 10.1 NR5A1 DMRT3
36 ebstein anomaly 10.0 ZFPM2 GATA4
37 double outlet right ventricle 10.0 ZFPM2-AS1 ZFPM2 GATA4
38 campomelic dysplasia 10.0 SRY SOX9 NR5A1
39 steroid inherited metabolic disorder 10.0 NR5A1 NR0B1
40 corticosterone methyloxidase type i deficiency 10.0 NR5A1 NR0B1
41 sex cord-gonadal stromal tumor 10.0 WT1 NR5A1
42 adrenal cortical hypofunction 10.0 NR5A1 NR0B1
43 blepharophimosis, ptosis, and epicanthus inversus 9.9 SOX9 NR5A1
44 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9 NR5A1 NR0B1
45 45,x/46,xy mixed gonadal dysgenesis 9.9 SRY NR0B1 DHH
46 sertoli cell tumor 9.9 WT1 NR5A1
47 adrenal cortical carcinoma 9.9 NR5A1 NR0B1 GATA4
48 aniridia 1 9.9 WT1 SOX9 NR5A1
49 adrenal hypoplasia, congenital 9.9 SOX9 NR5A1 NR0B1
50 androgen insensitivity syndrome 9.8 SRY NR5A1 NR0B1

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



Diseases related to 46,xy Partial Gonadal Dysgenesis
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Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

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Human phenotypes related to 46,xy Partial Gonadal Dysgenesis:

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 NR5A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 WWOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.66 WWOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 MAP3K1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.66 MAP3K1 NR5A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.66 WWOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.66 WWOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.66 MAP3K1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.66 WWOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.66 NR5A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.66 NR5A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 WWOX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.66 NR5A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.66 MAP3K1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 NR5A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 MAP3K1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 WWOX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 MAP3K1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 MAP3K1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.66 WWOX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.66 MAP3K1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.56 MAP3K1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.56 DMRT3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.56 DMRT3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.56 WT1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.56 DMRT3 MAP3K1 WT1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.56 MAP3K1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 DHH GATA4 NR0B1 NR5A1 SOX9 WT1
2 homeostasis/metabolism MP:0005376 9.65 DHH GATA4 MAP3K1 NR0B1 NR5A1 SOX9
3 reproductive system MP:0005389 9.28 DHH DMRT3 GATA4 NR0B1 NR5A1 SOX9
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Drugs & Therapeutics for 46,xy Partial Gonadal Dysgenesis

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

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Genetic Tests for 46,xy Partial Gonadal Dysgenesis

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Anatomical Context for 46,xy Partial Gonadal Dysgenesis

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MalaCards organs/tissues related to 46,xy Partial Gonadal Dysgenesis:

40
Testis, Ovary, Heart
Sources

Publications for 46,xy Partial Gonadal Dysgenesis

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Articles related to 46,xy Partial Gonadal Dysgenesis:

(show all 33)
# Title Authors PMID Year
1
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 6
24549039 2014
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
3
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. 6
21220346 2011
4
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. 61
33296094 2020
5
A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene. 61
33457310 2020
6
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations]. 61
33351340 2020
7
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis. 61
30922653 2019
8
Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis. 61
30992672 2019
9
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 61
29668062 2018
10
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. 61
27862157 2017
11
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. 61
28018429 2016
12
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. 61
27463801 2016
13
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. 61
25580123 2014
14
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. 61
24192396 2013
15
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. 61
23786321 2013
16
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? 61
22644991 2012
17
Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours. 61
21402494 2011
18
46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. 61
20153258 2011
19
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. 61
21340164 2010
20
[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)]. 61
20097326 2010
21
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 61
17694559 2008
22
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 61
17644778 2007
23
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 61
15356051 2004
24
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis. 61
12975780 2003
25
Management of 46, XY partial gonadal dysgenesis--revisited. 61
12422582 2002
26
Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. 61
11990454 2002
27
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 61
11017805 2000
28
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. 61
9718353 1998
29
Abnormalities of gonadal differentiation. 61
9890065 1998
30
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. 61
8954063 1996
31
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. 61
8710915 1996
32
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 61
8496317 1993
33
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. 61
1956279 1991
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Variations for 46,xy Partial Gonadal Dysgenesis

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

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) SNV Pathogenic 156583 rs606231252 8:106813516-106813516 8:105801288-105801288
2 ZFPM2-AS1 NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) SNV Pathogenic 156584 rs200834568 8:106810991-106810991 8:105798763-105798763
3 GATA4 NM_002052.5(GATA4):c.661G>A (p.Gly221Arg) SNV Pathogenic 88838 rs398122402 8:11606472-11606472 8:11748963-11748963
4 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) SNV Uncertain significance 406537 rs149688628 8:106815604-106815604 8:105803376-105803376
5 ZFPM2 NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) SNV Uncertain significance 477991 rs772114579 8:106573653-106573653 8:105561425-105561425
6 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) SNV Uncertain significance 477988 rs1554583195 8:106814456-106814456 8:105802228-105802228
7 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) SNV Uncertain significance 240842 rs368486644 8:106814406-106814406 8:105802178-105802178
8 ZFPM2 NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) SNV Uncertain significance 477992 rs373855468 8:106646497-106646497 8:105634269-105634269
9 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) SNV Uncertain significance 477990 rs1554583419 8:106815644-106815644 8:105803416-105803416
10 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) SNV Uncertain significance 544220 rs201729935 8:106815396-106815396 8:105803168-105803168
11 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) SNV Uncertain significance 578695 rs747995106 8:106814961-106814961 8:105802733-105802733
12 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) SNV Uncertain significance 578784 rs1563574497 8:106814694-106814694 8:105802466-105802466
13 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) SNV Uncertain significance 560631 rs200311467 8:106813628-106813628 8:105801400-105801400
14 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val) SNV Uncertain significance 472776 rs980402710 8:11566084-11566084 8:11708575-11708575
15 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) SNV Uncertain significance 638874 rs201707218 8:106815279-106815279 8:105803051-105803051
16 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) SNV Uncertain significance 644327 rs756076552 8:106814199-106814199 8:105801971-105801971
17 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) SNV Uncertain significance 644422 rs771923819 8:106813584-106813584 8:105801356-105801356
18 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) SNV Uncertain significance 647578 rs374095734 8:106814610-106814610 8:105802382-105802382
19 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) SNV Uncertain significance 648901 rs371546027 8:106814516-106814516 8:105802288-105802288
20 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) SNV Uncertain significance 660176 rs1586283411 8:106813520-106813520 8:105801292-105801292
21 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) SNV Uncertain significance 660458 rs1586283783 8:106813746-106813746 8:105801518-105801518
22 ZFPM2-AS1 NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) SNV Uncertain significance 857370 8:106801030-106801030 8:105788802-105788802
23 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) SNV Uncertain significance 864127 8:106815240-106815240 8:105803012-105803012
24 ZFPM2 NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) SNV Uncertain significance 942265 8:106646516-106646516 8:105634288-105634288
25 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) SNV Uncertain significance 944916 8:106815245-106815245 8:105803017-105803017
26 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) SNV Uncertain significance 953486 8:106814960-106814960 8:105802732-105802732
27 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) SNV Uncertain significance 964519 8:106814429-106814429 8:105802201-105802201
28 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) SNV Uncertain significance 968743 8:106815293-106815293 8:105803065-105803065
29 ZFPM2 NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) SNV Likely benign 696378 rs371910925 8:106456593-106456593 8:105444365-105444365
30 ZFPM2-AS1 NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) SNV Likely benign 696409 rs202204708 8:106801092-106801092 8:105788864-105788864
31 ZFPM2-AS1 NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) SNV Likely benign 697403 rs916094617 8:106811058-106811058 8:105798830-105798830
32 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) SNV Likely benign 544219 rs34248551 8:106814181-106814181 8:105801953-105801953
33 ZFPM2 NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) SNV Likely benign 544221 rs765866053 8:106456548-106456548 8:105444320-105444320
34 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) SNV Likely benign 544223 rs201439692 8:106813537-106813537 8:105801309-105801309
35 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Likely benign 6128 rs121908601 8:106431420-106431420 8:105419192-105419192
36 ZFPM2-AS1 NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) SNV Likely benign 414005 rs777185799 8:106811034-106811034 8:105798806-105798806
37 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Benign/Likely benign 39518 rs187043152 8:106813942-106813942 8:105801714-105801714
38 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) SNV Benign 414006 rs16873744 8:106815679-106815679 8:105803451-105803451
39 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) SNV Benign 260175 rs35998713 8:106814695-106814695 8:105802467-105802467
40 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) SNV Benign 260172 rs16873732 8:106814086-106814086 8:105801858-105801858
41 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) SNV Benign 414003 rs117908591 8:106814597-106814597 8:105802369-105802369
42 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) SNV Benign 477989 rs200049316 8:106815388-106815388 8:105803160-105803160
43 ZFPM2-AS1 NM_012082.4(ZFPM2):c.965-9TC[2] Microsatellite Benign 414004 rs147661076 8:106813266-106813267 8:105801038-105801039
44 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) SNV Benign 260176 rs1442320 8:106815286-106815286 8:105803058-105803058
45 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) SNV Benign 414008 rs16873741 8:106815474-106815474 8:105803246-105803246
46 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) SNV Benign 6127 rs28374544 8:106814279-106814279 8:105802051-105802051
47 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) SNV Benign 240843 rs146423225 8:106814975-106814975 8:105802747-105802747
48 ZFPM2 NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) SNV Benign 240844 rs202217256 8:106456600-106456600 8:105444372-105444372
49 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) SNV Benign 544224 rs200643137 8:106813888-106813888 8:105801660-105801660
50 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) SNV Benign 544225 rs35843564 8:106813586-106813586 8:105801358-105801358
Sources

Expression for 46,xy Partial Gonadal Dysgenesis

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

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

# Super pathways Score Top Affiliating Genes
1
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
10.92 WT1 SOX9 GATA4
Sources

GO Terms for 46,xy Partial Gonadal Dysgenesis

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.81 ZFPM2 WWOX WT1 SRY SOX9 NR5A1
2 chromatin GO:0000785 9.23 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
3 RNA polymerase II transcription factor complex GO:0090575 9.13 WWOX NR5A1 GATA4

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.07 ZFPM2 WT1 SOX9 NR5A1 GATA4 DMRT3
2 regulation of transcription, DNA-templated GO:0006355 10.02 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
3 cell differentiation GO:0030154 9.97 ZFPM2 SRY SOX9 NR5A1 NR0B1 DMRT3
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 ZFPM2 WWOX WT1 SRY SOX9 NR5A1
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 ZFPM2 WWOX WT1 SRY SOX9 NR0B1
6 positive regulation of transcription, DNA-templated GO:0045893 9.91 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
7 positive regulation of gene expression GO:0010628 9.88 WT1 SRY SOX9 NR5A1
8 transcription initiation from RNA polymerase II promoter GO:0006367 9.74 SOX9 NR5A1 NR0B1
9 male gonad development GO:0008584 9.65 WT1 SOX9 NR5A1 NR0B1 GATA4
10 cell fate specification GO:0001708 9.6 SOX9 DHH
11 aortic valve morphogenesis GO:0003180 9.58 SOX9 GATA4
12 sex differentiation GO:0007548 9.56 SRY DMRT3
13 gonad development GO:0008406 9.54 WT1 NR0B1
14 adrenal gland development GO:0030325 9.54 WT1 NR5A1 NR0B1
15 Leydig cell differentiation GO:0033327 9.52 NR0B1 DHH
16 regulation of steroid biosynthetic process GO:0050810 9.51 NR5A1 DHH
17 sex determination GO:0007530 9.5 WT1 NR5A1 NR0B1
18 Sertoli cell differentiation GO:0060008 9.48 SOX9 NR0B1
19 male sex determination GO:0030238 9.35 SRY SOX9 NR5A1 NR0B1 DHH
20 negative regulation of female gonad development GO:2000195 9.33 ZFPM2 WT1 NR5A1
21 positive regulation of male gonad development GO:2000020 9.1 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 GO:0003677 9.95 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
3 sequence-specific double-stranded DNA binding GO:1990837 9.73 SOX9 NR5A1 GATA4 DMRT3
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
5 transcription factor binding GO:0008134 9.62 ZFPM2 SRY NR0B1 GATA4
6 sequence-specific DNA binding GO:0043565 9.55 WT1 SOX9 NR5A1 GATA4 DMRT3
7 zinc ion binding GO:0008270 9.43 ZFPM2 WT1 NR5A1 MAP3K1 GATA4 DHH
8 DNA-binding transcription factor activity GO:0003700 9.1 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
Sources

Sources for 46,xy Partial Gonadal Dysgenesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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