MCID: 46X012
MIFTS: 41

46,xy Partial Gonadal Dysgenesis

Categories: Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 46,xy Partial Gonadal Dysgenesis

MalaCards integrated aliases for 46,xy Partial Gonadal Dysgenesis:

Name: 46,xy Partial Gonadal Dysgenesis 59
46,xy Partial Testicular Dysgenesis 59
46,xy Pgd 59

Characteristics:

Orphanet epidemiological data:

59
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:



Summaries for 46,xy Partial Gonadal Dysgenesis

MalaCards based summary : 46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to gonadal dysgenesis and 46 xy gonadal dysgenesis. An important gene associated with 46,xy Partial Gonadal Dysgenesis is WWOX (WW Domain Containing Oxidoreductase), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include testis, ovary and heart, and related phenotypes are azoospermia and abnormality of the scrotum

Related Diseases for 46,xy Partial Gonadal Dysgenesis

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



Diseases related to 46,xy Partial Gonadal Dysgenesis

Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

Human phenotypes related to 46,xy Partial Gonadal Dysgenesis:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
2 abnormality of the scrotum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000045
3 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
4 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
5 abnormality of the labia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000058
6 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
7 gonadal dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000133
8 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
9 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
10 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
11 decreased fertility in females 59 32 hallmark (90%) Very frequent (99-80%) HP:0000868
12 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
13 sparse axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002215
14 sparse pubic hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002225
15 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
16 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008214
17 decreased testosterone in males 59 32 hallmark (90%) Very frequent (99-80%) HP:0008230
18 hypoplasia of the vagina 59 32 hallmark (90%) Very frequent (99-80%) HP:0008726
19 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
20 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
21 streak ovary 59 32 hallmark (90%) Very frequent (99-80%) HP:0010464
22 abnormal sex determination 59 32 hallmark (90%) Very frequent (99-80%) HP:0012244
23 vanishing testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012870
24 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
25 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
26 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
27 testicular gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000030
28 ovarian gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000149
29 adrenal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000846
30 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
31 absence of secondary sex characteristics 59 32 occasional (7.5%) Occasional (29-5%) HP:0008187
32 primary gonadal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008193
33 nephrotic syndrome 59 32 very rare (1%) Very rare (<4-1%) HP:0000100
34 nephroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002667
35 clitoromegaly 59 Very frequent (99-80%)
36 abnormality of the vagina 59 Very frequent (99-80%)
37 abnormal internal genitalia 59 Very frequent (99-80%)
38 increased circulating gonadotropin level 59 Very frequent (99-80%)
39 elevated follicle stimulating hormone 59 Very frequent (99-80%)
40 hypoplasia of penis 59 Very frequent (99-80%)
41 elevated luteinizing hormone 59 Very frequent (99-80%)
42 gonadoblastoma 59 Frequent (79-30%)
43 malformation of the heart and great vessels 59 Very rare (<4-1%)
44 elevated circulating follicle stimulating hormone level 32 hallmark (90%) HP:0008232
45 clitoral hypertrophy 32 hallmark (90%) HP:0008665
46 elevated circulating luteinizing hormone level 32 hallmark (90%) HP:0011969
47 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680

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

26 (show all 30)
# 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 MAP3K1 NR5A1 WWOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.98 DMRT3 WWOX
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-129 9.98 WWOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.98 DMRT3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.98 MAP3K1 NR5A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.98 WT1 DMRT3
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-19 9.98 WWOX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.98 NR5A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.98 DMRT3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.98 WT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.98 WT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.98 WT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.98 WT1 MAP3K1 DMRT3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.98 NR5A1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.98 WT1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 WT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.98 WWOX
27 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.98 DMRT3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 MAP3K1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.98 NR5A1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 WT1 MAP3K1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 GATA4 MAP3K1 NR5A1 SOX9 VAMP7 WT1
2 homeostasis/metabolism MP:0005376 9.96 DHH GATA4 MAP3K1 NR0B1 NR5A1 SOX9
3 cardiovascular system MP:0005385 9.95 NR5A1 SOX9 VAMP7 WT1 ZFPM2 GATA4
4 endocrine/exocrine gland MP:0005379 9.92 ZFPM2 DHH GATA4 NR0B1 NR5A1 SOX9
5 nervous system MP:0003631 9.76 DHH DMRT3 GATA4 MAP3K1 NR5A1 SOX9
6 no phenotypic analysis MP:0003012 9.35 GATA4 SOX9 WT1 WWOX ZFPM2
7 reproductive system MP:0005389 9.28 DHH DMRT3 GATA4 NR0B1 NR5A1 SOX9

Drugs & Therapeutics for 46,xy Partial Gonadal Dysgenesis

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

Genetic Tests for 46,xy Partial Gonadal Dysgenesis

Anatomical Context for 46,xy Partial Gonadal Dysgenesis

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

41
Testis, Ovary, Heart

Publications for 46,xy Partial Gonadal Dysgenesis

Articles related to 46,xy Partial Gonadal Dysgenesis:

# Title Authors Year
1
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
2
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. ( 25580123 )
2014
3
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. ( 24192396 )
2013
4
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis. ( 12975780 )
2003
5
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. ( 11017805 )
2000
6
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )
1998
7
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. ( 8954063 )
1996
8
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. ( 8496317 )
1993

Variations for 46,xy Partial Gonadal Dysgenesis

Expression for 46,xy Partial Gonadal Dysgenesis

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

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 10.92 GATA4 SOX9 WT1
2 10.59 SOX9 SRY

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 nucleoplasm GO:0005654 9.5 GATA4 NR0B1 NR5A1 SOX9 SRY WT1
2 RNA polymerase II transcription factor complex GO:0090575 8.8 GATA4 NR5A1 WWOX

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.95 GATA4 NR5A1 WT1 WWOX ZFPM2
2 cell differentiation GO:0030154 9.95 DMRT3 NR0B1 NR5A1 SOX9 SRY ZFPM2
3 negative regulation of transcription, DNA-templated GO:0045892 9.9 NR0B1 SOX9 WT1 ZFPM2
4 positive regulation of transcription, DNA-templated GO:0045893 9.88 GATA4 NR5A1 SOX9 SRY WT1 ZFPM2
5 heart development GO:0007507 9.8 GATA4 SOX9 WT1 ZFPM2
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.76 NR0B1 NR5A1 SOX9
7 male gonad development GO:0008584 9.65 GATA4 NR0B1 NR5A1 SOX9 WT1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.61 SOX9 WT1
9 intracellular receptor signaling pathway GO:0030522 9.61 NR0B1 NR5A1
10 tissue development GO:0009888 9.61 GATA4 NR5A1 WT1
11 sex differentiation GO:0007548 9.59 DMRT3 SRY
12 gonad development GO:0008406 9.58 NR0B1 WT1
13 Leydig cell differentiation GO:0033327 9.57 DHH NR0B1
14 regulation of steroid biosynthetic process GO:0050810 9.56 DHH NR5A1
15 Sertoli cell differentiation GO:0060008 9.54 NR0B1 SOX9
16 adrenal gland development GO:0030325 9.54 NR0B1 NR5A1 WT1
17 sex determination GO:0007530 9.5 NR0B1 NR5A1 WT1
18 negative regulation of female gonad development GO:2000195 9.33 NR5A1 WT1 ZFPM2
19 male sex determination GO:0030238 9.26 DHH NR0B1 SOX9 SRY
20 positive regulation of male gonad development GO:2000020 9.02 NR5A1 SOX9 SRY WT1 ZFPM2
21 regulation of transcription, DNA-templated GO:0006355 10.11 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
22 transcription, DNA-templated GO:0006351 10.06 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
23 regulation of transcription by RNA polymerase II GO:0006357 10.02 DMRT3 NR5A1 SOX9 SRY WT1
24 positive regulation of transcription by RNA polymerase II GO:0045944 10 GATA4 NR5A1 SOX9 WT1 WWOX ZFPM2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
2 DNA binding transcription factor activity GO:0003700 9.85 DMRT3 GATA4 NR5A1 SOX9 SRY WT1
3 transcription factor binding GO:0008134 9.71 GATA4 NR0B1 SRY ZFPM2
4 transcription regulatory region DNA binding GO:0044212 9.67 GATA4 SOX9 WT1
5 zinc ion binding GO:0008270 9.63 DHH GATA4 MAP3K1 NR5A1 WT1 ZFPM2
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.5 NR5A1 SOX9 SRY
7 nuclear receptor activity GO:0004879 9.48 NR0B1 NR5A1
8 enhancer sequence-specific DNA binding GO:0001158 9.46 GATA4 SOX9
9 sequence-specific DNA binding GO:0043565 9.43 DMRT3 GATA4 NR0B1 NR5A1 SOX9 WT1
10 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.23 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
11 protein binding GO:0005515 10.21 DHH DMRT3 GATA4 MAP3K1 NR0B1 NR5A1

Sources for 46,xy Partial Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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32 HPO
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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