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MCID: 46X012
MIFTS: 42

46,xy Partial Gonadal Dysgenesis

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

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
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 46,xy sex reversal 1 and gonadal dysgenesis. An important gene associated with 46,xy Partial Gonadal Dysgenesis is MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of Androgen receptor activity. Affiliated tissues include heart, ovary and testis, and related phenotypes are delayed skeletal maturation and delayed puberty

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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 all 33)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 1 30.4 SOX9 SRY
2 gonadal dysgenesis 29.8 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
3 46 xy gonadal dysgenesis 29.3 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
4 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 11.3
5 chromosome 9p deletion syndrome 10.2
6 neuropathy 10.2
7 anorchia 10.1 NR5A1 SRY
8 diaphragm disease 10.1 GATA4 ZFPM2
9 hermaphroditism 10.1 SOX9 SRY
10 donnai-barrow syndrome 10.1 GATA4 ZFPM2
11 male reproductive organ benign neoplasm 10.1 NR5A1 WT1
12 mixed germ cell-sex cord neoplasm 10.1 GATA4 WT1
13 androgen insensitivity syndrome 10.1 NR5A1 SRY
14 denys-drash syndrome 10.1 NR5A1 WT1
15 adrenal cortical hypofunction 10.0 NR0B1 NR5A1
16 adrenal hypoplasia, congenital 10.0 NR0B1 NR5A1
17 mixed gonadal dysgenesis 10.0 DHH SOX9 SRY
18 sex cord-gonadal stromal tumor 10.0 NR5A1 WT1
19 diaphragmatic hernia, congenital 10.0 GATA4 WT1 ZFPM2
20 pseudohermaphroditism 10.0 NR5A1 SRY WT1
21 cryptorchidism, unilateral or bilateral 9.9 NR5A1 SRY WT1
22 premature ovarian failure 1 9.9 NR5A1 SRY WT1
23 heart septal defect 9.9 GATA4 ZFPM2
24 alternating hemiplegia of childhood 9.9 NR0B1 NR5A1 SRY
25 lipoid congenital adrenal hyperplasia 9.9 NR0B1 NR5A1 SRY
26 gonadal disease 9.9 NR0B1 NR5A1 SRY
27 gonadoblastoma 9.9 SOX9 SRY WT1
28 dysgerminoma 9.9 SRY WT1
29 persistent mullerian duct syndrome 9.8 NR5A1 SOX9 SRY WT1
30 frasier syndrome 9.8 NR5A1 SOX9 SRY WT1
31 hypospadias 9.8 NR5A1 SOX9 SRY WT1
32 46,xx sex reversal 1 9.8 NR0B1 NR5A1 SOX9 SRY
33 wilms tumor 1 9.7 NR0B1 NR5A1 SRY WT1

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:

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

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 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-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 DMRT3 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-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 MAP3K1 DMRT3 WT1
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 MAP3K1 WT1

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 GATA4 MAP3K1 NR5A1 SOX9 VAMP7 WT1
4 endocrine/exocrine gland MP:0005379 9.92 DHH GATA4 NR0B1 NR5A1 SOX9 WT1
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
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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:

41
Heart, Ovary, Testis
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Publications for 46,xy Partial Gonadal Dysgenesis

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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
Management of 46, XY partial gonadal dysgenesis--revisited. ( 12422582 )
2002
6
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. ( 11017805 )
2000
7
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )
1998
8
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. ( 8954063 )
1996
9
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. ( 8496317 )
1993
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Variations for 46,xy Partial Gonadal Dysgenesis

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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 65
10.92 GATA4 SOX9 WT1
2
Regulation of Androgen receptor activity 1
10.85 NR0B1 SRY
3
Deactivation of the beta-catenin transactivating complex 66
10.59 SOX9 SRY
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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 9.7 GATA4 NR0B1 NR5A1 SOX9 SRY WT1
2 nuclear transcription factor complex GO:0044798 8.96 SOX9 SRY
3 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 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 NR0B1 SRY WT1 WWOX ZFPM2
2 cell differentiation GO:0030154 9.97 DMRT3 NR0B1 NR5A1 SOX9 SRY ZFPM2
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 GATA4 NR5A1 SOX9 SRY WT1 ZFPM2
4 transcription by RNA polymerase II GO:0006366 9.9 GATA4 NR5A1 SRY WT1
5 negative regulation of transcription, DNA-templated GO:0045892 9.89 NR0B1 SOX9 WT1 ZFPM2
6 heart development GO:0007507 9.81 GATA4 SOX9 WT1 ZFPM2
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.76 NR0B1 NR5A1 SOX9
8 male gonad development GO:0008584 9.65 GATA4 NR0B1 NR5A1 SOX9 WT1
9 branching involved in ureteric bud morphogenesis GO:0001658 9.62 SOX9 WT1
10 intracellular receptor signaling pathway GO:0030522 9.61 NR0B1 NR5A1
11 sex differentiation GO:0007548 9.58 DMRT3 SRY
12 tissue development GO:0009888 9.58 GATA4 NR5A1 WT1
13 gonad development GO:0008406 9.56 NR0B1 WT1
14 Leydig cell differentiation GO:0033327 9.55 DHH NR0B1
15 regulation of steroid biosynthetic process GO:0050810 9.54 DHH NR5A1
16 adrenal gland development GO:0030325 9.54 NR0B1 NR5A1 WT1
17 Sertoli cell differentiation GO:0060008 9.52 NR0B1 SOX9
18 sex determination GO:0007530 9.5 NR0B1 NR5A1 WT1
19 male sex determination GO:0030238 9.35 DHH NR0B1 NR5A1 SOX9 SRY
20 negative regulation of female gonad development GO:2000195 9.33 NR5A1 WT1 ZFPM2
21 positive regulation of male gonad development GO:2000020 9.02 NR5A1 SOX9 SRY WT1 ZFPM2
22 regulation of transcription, DNA-templated GO:0006355 10.02 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
23 regulation of transcription by RNA polymerase II GO:0006357 10.01 DMRT3 NR5A1 SOX9 WT1 ZFPM2
24 positive regulation of transcription by RNA polymerase II GO:0045944 10 GATA4 NR5A1 SOX9 SRY WT1 WWOX

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

(show all 15)
# 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 9.8 DMRT3 GATA4 NR5A1 SOX9 SRY WT1
3 transcription factor binding GO:0008134 9.76 GATA4 NR0B1 SRY ZFPM2
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.73 GATA4 SOX9 SRY WT1
5 transcription coactivator activity GO:0003713 9.71 GATA4 NR5A1 WWOX ZFPM2
6 transcription regulatory region DNA binding GO:0044212 9.7 GATA4 SOX9 WT1
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.67 GATA4 SOX9 WT1
8 zinc ion binding GO:0008270 9.63 DHH GATA4 MAP3K1 NR5A1 WT1 ZFPM2
9 steroid hormone receptor activity GO:0003707 9.55 NR0B1 NR5A1
10 nuclear receptor activity GO:0004879 9.54 NR0B1 NR5A1
11 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.54 NR5A1 SOX9 SRY
12 enhancer sequence-specific DNA binding GO:0001158 9.48 GATA4 SOX9
13 sequence-specific DNA binding GO:0043565 9.43 DMRT3 GATA4 NR0B1 NR5A1 SOX9 WT1
14 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 DMRT3 GATA4 NR0B1 NR5A1 SOX9 SRY
15 protein binding GO:0005515 10.25 DHH DMRT3 GATA4 MAP3K1 NR0B1 NR5A1
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Sources for 46,xy Partial Gonadal Dysgenesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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