MCID: 46X002
MIFTS: 38

46 Xx Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for 46 Xx Gonadal Dysgenesis

MalaCards integrated aliases for 46 Xx Gonadal Dysgenesis:

Name: 46 Xx Gonadal Dysgenesis 12 15
Ovarian Dysgenesis 12 36 29 54 6
Gonadal Dysgenesis, 46,xx 44
Dysgenesis, Ovarian 39

Classifications:



External Ids:

Disease Ontology 12 DOID:14450
KEGG 36 H00599
MeSH 44 D023961
NCIt 50 C120197
UMLS 70 C0949595

Summaries for 46 Xx Gonadal Dysgenesis

KEGG : 36 Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

MalaCards based summary : 46 Xx Gonadal Dysgenesis, also known as ovarian dysgenesis, is related to 46,xx sex reversal 1 and perrault syndrome 1. An important gene associated with 46 Xx Gonadal Dysgenesis is FSHR (Follicle Stimulating Hormone Receptor), and among its related pathways/superpathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include thymus, ovary and pituitary, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Disease Ontology : 12 A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.

Related Diseases for 46 Xx Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xx Gonadal Dysgenesis

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 32.8 PSMC3IP NR5A1 MRPS22 FSHR BMP15
2 perrault syndrome 1 32.7 LARS2 HSD17B4
3 gonadal dysgenesis 30.7 PSMC3IP NR5A1 MRPS22 GDF9 FSHR FOXL2
4 perrault syndrome 30.6 SYCE1 PSMC3IP NOBOX MRPS22 LARS2 HSD17B4
5 uterine hypoplasia 30.3 PSMC3IP MRPS22 BMP15
6 cryptorchidism, unilateral or bilateral 30.1 NR5A1 LHCGR FSHR
7 blepharophimosis 30.1 MRPS22 FSHR FOXL2
8 d-bifunctional protein deficiency 30.0 LARS2 HSD17B4 CLPP
9 disorder of sexual development 29.9 NR5A1 LHCGR GDF9 FSHR FOXL2 EPRS1
10 male infertility 29.8 STAG3 NR5A1 LHCGR FSHR
11 amenorrhea 29.8 NR5A1 NOBOX LHCGR GDF9 FSHR FOXL2
12 ovarian disease 29.3 STAG3 NOBOX LHCGR GDF9 FSHR FOXL2
13 premature menopause 27.4 SYCE1 STAG3 PSMC3IP NR5A1 NOBOX MRPS22
14 ovarian dysgenesis 1 11.5
15 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.4
16 46,xx gonadal dysgenesis epibulbar dermoid 11.4
17 ovarian dysgenesis 2 11.4
18 ovarian dysgenesis 3 11.4
19 ovarian dysgenesis 4 11.4
20 ovarian dysgenesis 5 11.4
21 ovarian dysgenesis 6 11.4
22 ovarian dysgenesis 7 11.4
23 ovarian dysgenesis 8 11.4
24 perrault syndrome 6 11.3
25 perrault syndrome 3 11.2
26 leukoencephalopathy with vanishing white matter 11.1
27 rare female infertility due to gonadal dysgenesis 11.1
28 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.1
29 perrault syndrome 2 11.1
30 premature ovarian failure 1 11.0
31 perrault syndrome 4 11.0
32 premature ovarian failure 8 11.0
33 perrault syndrome 5 11.0
34 mucinous cystadenofibroma 10.3 LHCGR FSHR
35 46,xx sex reversal 10.3 NR5A1 FOXL2
36 mayer-rokitansky-kuster-hauser syndrome 10.3
37 branchiootic syndrome 1 10.3
38 microcystic stromal tumor 10.3 NR5A1 FOXL2
39 oocyte maturation defect 1 10.3 STAG3 BMP15
40 ovarian sex-cord stromal tumor 10.3 NR5A1 FOXL2
41 persistent mullerian duct syndrome 10.3 NR5A1 LHCGR BMP15
42 ovarian hyperstimulation syndrome 10.2 LHCGR FSHR BMP15
43 deafness, autosomal recessive 89 10.2 LARS2 EPRS1
44 luteoma 10.2 FSHR FOXL2
45 pseudohermaphroditism 10.2 NR5A1 LHCGR FSHR
46 combined oxidative phosphorylation deficiency 5 10.2 MRPS22 FOXL2
47 sex cord-gonadal stromal tumor 10.2 NR5A1 FSHR FOXL2
48 usher syndrome, type iiib 10.2 HARS2 EPRS1
49 anovulation 10.2 GDF9 FSHR BMP15
50 nivelon-nivelon-mabille syndrome 10.2 NR5A1 FOXL2

Graphical network of the top 20 diseases related to 46 Xx Gonadal Dysgenesis:



Diseases related to 46 Xx Gonadal Dysgenesis

Symptoms & Phenotypes for 46 Xx Gonadal Dysgenesis

MGI Mouse Phenotypes related to 46 Xx Gonadal Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10 BMP15 CLPP FIGLA FOXL2 FSHR GDF9
2 homeostasis/metabolism MP:0005376 9.77 CLPP EPRS1 FOXL2 FSHR GDF9 HSD17B4
3 reproductive system MP:0005389 9.47 BMP15 CLPP FIGLA FOXL2 FSHR GDF9

Drugs & Therapeutics for 46 Xx Gonadal Dysgenesis

Drugs for 46 Xx Gonadal Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Genetic Study in Patients With Ovarian Insufficiency Recruiting NCT03474120

Search NIH Clinical Center for 46 Xx Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, 46,xx

Genetic Tests for 46 Xx Gonadal Dysgenesis

Genetic tests related to 46 Xx Gonadal Dysgenesis:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 29

Anatomical Context for 46 Xx Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xx Gonadal Dysgenesis:

40
Thymus, Ovary, Pituitary, Lymph Node, Skin, Uterus, Testis

Publications for 46 Xx Gonadal Dysgenesis

Articles related to 46 Xx Gonadal Dysgenesis:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Molecular biology and physiological role of the oocyte factor, BMP-15. 54 61
15836954 2005
2
Gonadotropin receptors and the control of gonadal steroidogenesis: physiology and pathology. 61 54
9890061 1998
3
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations. 61 54
9562960 1998
4
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. 54 61
8855829 1996
5
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome. 61
33617655 2021
6
Menarche in primary ovarian insufficiency after a month of hormone replacement therapy: a case report. 61
33618767 2021
7
The influence of growth hormone therapy on the cardiovascular system in Turner syndrome. 61
33151179 2020
8
Variants in Homologous Recombination Genes EXO1 and RAD51 Related with Premature Ovarian Insufficiency. 61
32772095 2020
9
Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature. 61
33054466 2020
10
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 61
32281099 2020
11
Dynamics of the transcriptional landscape during human fetal testis and ovary development. 61
32412604 2020
12
Calretinin is a novel candidate marker for adverse ovarian effects of early life exposure to mixtures of endocrine disruptors in the rat. 61
32221642 2020
13
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report. 61
33101191 2020
14
Case 1: Persistent Hypoglycemia in a 46,XX Newborn with Ovarian Dysgenesis. 61
31894082 2020
15
Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis. 61
31809259 2019
16
Turner syndrome: mechanisms and management. 61
31213699 2019
17
Non-syndromic monogenic female infertility. 61
31577258 2019
18
Genetics of human female infertility†. 61
31077289 2019
19
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. 61
31455392 2019
20
A critical assessment of case reports describing absent uterus in subjects with oestrogen deficiency. 61
30820975 2019
21
Endocrinopathies and cardiopathies in patients with Turner syndrome. 61
30380946 2018
22
D224V and S128Y mutation in FSHRED influence thumb movement differentially: An intricate insight gained by short-term molecular dynamics simulation. 61
30390320 2018
23
Essential Role of BRCA2 in Ovarian Development and Function. 61
30207912 2018
24
X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre. 61
28947658 2017
25
Marfanoid habitus is a nonspecific feature of Perrault syndrome. 61
28832386 2017
26
Turner syndrome caused by rare complex structural abnormalities involving chromosome X. 61
28962153 2017
27
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. 61
28830375 2017
28
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population. 61
28821302 2017
29
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. 61
28449065 2017
30
Environmental influences on ovarian dysgenesis - developmental windows sensitive to chemical exposures. 61
28450750 2017
31
Care of girls and women with Turner syndrome: beyond growth and hormones. 61
28336768 2017
32
[Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review]. 61
28173651 2017
33
Genetics of primary ovarian insufficiency. 61
27861765 2017
34
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. 61
27967308 2017
35
The comorbidity of bipolar disorder, diabetes mellitus, and autoimmune hypothyroidism in an adult woman with Turner's syndrome: a case report. 61
29075118 2017
36
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH). 61
27824615 2016
37
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. 61
28216916 2016
38
Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome. 61
27387888 2016
39
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. 61
26911863 2016
40
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. 61
26657938 2016
41
Severe aortic regurgitation and partial anomalous pulmonary venous connection in a Turner syndrome patient. 61
26716053 2015
42
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. 61
26438105 2015
43
Reproductive and obstetric outcomes in mosaic Turner's Syndrome: a cross-sectional study and review of the literature. 61
26060131 2015
44
Significance of ligand interactions involving Hop2-Mnd1 and the RAD51 and DMC1 recombinases in homologous DNA repair and XX ovarian dysgenesis. 61
25820426 2015
45
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation. 61
26175800 2015
46
Pure gonadal dysgenesis (46 XX type) with a familial pattern. 61
26430655 2015
47
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 61
25355836 2014
48
Ovarian dysgenesis in an alpaca with a minute chromosome 36. 61
23008444 2014
49
Disorders of sex development (DSDs): an update. 61
24758178 2014
50
Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes. 61
24696764 2014

Variations for 46 Xx Gonadal Dysgenesis

ClinVar genetic disease variations for 46 Xx Gonadal Dysgenesis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FSHR NM_000145.3(FSHR):c.*199A>G SNV Uncertain significance 336477 rs886056148 GRCh37: 2:49189673-49189673
GRCh38: 2:48962534-48962534
2 FSHR NM_000145.3(FSHR):c.373C>A (p.Leu125Met) SNV Uncertain significance 336491 rs886056151 GRCh37: 2:49244629-49244629
GRCh38: 2:49017490-49017490
3 FSHR NM_000145.3(FSHR):c.1030G>C (p.Val344Leu) SNV Uncertain significance 336483 rs772756688 GRCh37: 2:49190930-49190930
GRCh38: 2:48963791-48963791
4 FSHR NM_000145.3(FSHR):c.-114T>C SNV Likely benign 369344 rs115357990 GRCh37: 2:49381670-49381670
GRCh38: 2:49154531-49154531
5 BMP15 NM_005448.2(BMP15):c.783_785TCT[3] (p.Leu263dup) Microsatellite Benign 259775 rs371124071 GRCh37: X:50659210-50659211
GRCh38: X:50916210-50916211

Expression for 46 Xx Gonadal Dysgenesis

Search GEO for disease gene expression data for 46 Xx Gonadal Dysgenesis.

Pathways for 46 Xx Gonadal Dysgenesis

Pathways related to 46 Xx Gonadal Dysgenesis according to KEGG:

36
# Name Kegg Source Accession
1 Ovarian steroidogenesis hsa04913

Pathways related to 46 Xx Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 LHCGR FSHR BMP15
2 10.53 NR5A1 LHCGR GDF9 FSHR FIGLA
3 10.27 LHCGR FSHR

GO Terms for 46 Xx Gonadal Dysgenesis

Biological processes related to 46 Xx Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 meiotic cell cycle GO:0051321 9.63 SYCE1 STAG3 PSMC3IP
2 male gonad development GO:0008584 9.61 NR5A1 LHCGR FSHR
3 hormone-mediated signaling pathway GO:0009755 9.54 NR5A1 LHCGR FSHR
4 female gonad development GO:0008585 9.49 NR5A1 FSHR
5 synaptonemal complex assembly GO:0007130 9.48 SYCE1 STAG3
6 tRNA aminoacylation for protein translation GO:0006418 9.43 LARS2 HARS2 EPRS1
7 Sertoli cell development GO:0060009 9.4 HSD17B4 FSHR
8 oogenesis GO:0048477 9.33 NOBOX FIGLA DIAPH2
9 ovulation cycle process GO:0022602 9.32 LHCGR FSHR
10 ovarian follicle development GO:0001541 9.26 LHCGR FSHR FOXL2 BMP15
11 female gamete generation GO:0007292 9.02 MCM8 GDF9 FSHR DIAPH2 BMP15

Molecular functions related to 46 Xx Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.43 LARS2 HARS2 EPRS1
2 protein-hormone receptor activity GO:0016500 9.16 LHCGR FSHR
3 aminoacyl-tRNA ligase activity GO:0004812 9.13 LARS2 HARS2 EPRS1
4 type I activin receptor binding GO:0070698 8.62 GDF9 BMP15

Sources for 46 Xx Gonadal Dysgenesis

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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