ODG1
MCID: OVR075
MIFTS: 37

Ovarian Dysgenesis 1 (ODG1)

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

Aliases & Classifications for Ovarian Dysgenesis 1

MalaCards integrated aliases for Ovarian Dysgenesis 1:

Name: Ovarian Dysgenesis 1 57 12 74 29 13 6
Xx Gonadal Dysgenesis 57 74 55
Gonadal Dysgenesis, Xx Type 57 75
Odg1 57 74
Xxgd 57 74
Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype 57
Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive 57
Hypergonadotropic Ovarian Dysgenesis with Normal Karyotype 74
Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive 74
Ovarian Failure, Hypergonadotropic 57
Hypergonadotropic Ovarian Failure 74
Xx Gonadal Dysgenesis; Xxgd 57
Dysgenesis, Ovarian, Type 1 40
Ovarian Failure, Premature 72
Gonadal Dysgenesis Xx Type 74
Gonadal Dysgenesis, 46,xx 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ovarian dysgenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080493
MeSH 44 D023961
UMLS 72 C0085215 C0949595

Summaries for Ovarian Dysgenesis 1

UniProtKB/Swiss-Prot : 74 Ovarian dysgenesis 1: An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle- stimulating hormone (FSH) and luteinizing hormone (LH).

MalaCards based summary : Ovarian Dysgenesis 1, also known as xx gonadal dysgenesis, is related to 46 xx gonadal dysgenesis and hypergonadotropic ovarian failure, familial or sporadic, and has symptoms including pelvic pain An important gene associated with Ovarian Dysgenesis 1 is FSHR (Follicle Stimulating Hormone Receptor). The drugs Acetylcysteine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include ovary and bone, and related phenotypes are osteoporosis and increased circulating gonadotropin level

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.

OMIM : 57 Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). (233300)

Wikipedia : 75 This syndrome is inherited as an autosomal disease. It affects both males and females but the phenotype... more...

Related Diseases for Ovarian Dysgenesis 1

Graphical network of the top 20 diseases related to Ovarian Dysgenesis 1:



Diseases related to Ovarian Dysgenesis 1

Symptoms & Phenotypes for Ovarian Dysgenesis 1

Human phenotypes related to Ovarian Dysgenesis 1:

32 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 32 HP:0000939
2 increased circulating gonadotropin level 32 HP:0000837
3 primary amenorrhea 32 HP:0000786
4 gonadal dysgenesis 32 HP:0000133

Symptoms via clinical synopsis from OMIM:

57
Skel:
osteoporosis

Endo:
elevated gonadotropins

G U:
primary amenorrhea
gonadal dysgenesis
streak gonads

Clinical features from OMIM:

233300

UMLS symptoms related to Ovarian Dysgenesis 1:


pelvic pain

Drugs & Therapeutics for Ovarian Dysgenesis 1

Drugs for Ovarian Dysgenesis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 36, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
3
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
rituximab Approved Phase 2 174722-31-7 10201696
6
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Progesterone Approved, Vet_approved Phase 1, Phase 2 57-83-0 5994
10
Estradiol Approved, Investigational, Vet_approved Phase 1, Phase 2 50-28-2 5757
11
Polyestradiol phosphate Approved Phase 1, Phase 2 28014-46-2
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13 Tocotrienol Investigational Phase 2 6829-55-6
14 Alkylating Agents Phase 2
15 Tocotrienols Phase 2
16 Alpha-lipoic Acid Phase 2
17 Antilymphocyte Serum Phase 2
18 Tocopherols Phase 2
19 N-monoacetylcystine Phase 2
20 Immunosuppressive Agents Phase 2
21 Vitamins Phase 2
22 Thioctic Acid Phase 2
23 Antimetabolites Phase 2
24 Antimetabolites, Antineoplastic Phase 2
25 Antineoplastic Agents, Alkylating Phase 2
26 Hormones Phase 1, Phase 2
27 Estradiol 17 beta-cypionate Phase 1, Phase 2
28 Estradiol 3-benzoate Phase 1, Phase 2
29 Mitogens Phase 1, Phase 2
30 Follicle Stimulating Hormone Phase 1, Phase 2
31 Contraceptive Agents
32 Estrogens, Conjugated (USP)
33 Hormone Antagonists
34 Hormones, Hormone Substitutes, and Hormone Antagonists
35 Estrogens
36 Progestins

Interventional clinical trials:

(showing 18, show less)
# Name Status NCT ID Phase Drugs
1 Effects of Adipose Derived Stem Cell Therapy in Women With Premature Ovarian Failure Unknown status NCT01853501 Phase 4
2 A Phase Ι/Π Study of Human Cord Blood Mononuclear Cells and Human Umbilical Cord Mesenchymal Stem Cells Transplantation Combined With Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
3 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
4 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
5 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
6 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
7 Autologous Very Small Embryonic-like Stem Cells(VSELs) for Premature Ovarian Failure Recruiting NCT03985462 Phase 1, Phase 2
8 Transplantation of Specific Populations of Bone Marrow-Derived Stem Cells and Mesenchymal Stem Cells for the Treatment of Premature Ovarian Failure. Active, not recruiting NCT03069209 Phase 1, Phase 2
9 Clinical Study on the Safety and Effectiveness of Human Umbilical Cord Mesenchymal Stem Cells in the Treatment of Premature Ovarian Insufficiency Active, not recruiting NCT03816852 Phase 2
10 Platelet Rich Plasma Ovarian in Vitro Activation and Stem Cells Transplantation In Women With Ovarian Failure Enrolling by invitation NCT04009473 Phase 1, Phase 2
11 Premature Ovarian Failure : Genetic and Physiopathologic Analysis Unknown status NCT00780897
12 Genetic Analysis of Familial Cases of Premature Ovarian Failure Completed NCT01177891
13 X-Chromosome Inactivation Status and Premature Ovarian Failure Completed NCT00295087
14 Comparison of Transdermal and Oral Estrogens in Adolescents With Ovarian Failure Completed NCT01023178 17beta Estradiol;Conjugated estrogens;17Beta Estradiol - transdermal;Progesterone, micronized
15 Oogonial Stem Cell Isolation in Ovarian Insufficiency Patients Completed NCT01702935
16 Transplantation of Ovarian Tissue Into the Pelvic Wall and the Ovary After Cryopreservation of Ovarian Tissue Before Cytotoxic Therapies - Where do More Follicles Grow? Enrolling by invitation NCT02780791
17 The Natural History of Reproductive and Overall Health in Women With a Pre-Mutation in the FMR1 Gene: Creation of a Patient Registry Terminated NCT01187524
18 The Use of DHEA in Women With Premature Ovarian Failure Withdrawn NCT01129947 Early Phase 1 DHEA

Search NIH Clinical Center for Ovarian Dysgenesis 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Estradiol
Estradiol acetate
estradiol cypionate
ESTRADIOL PWDR
estradiol valerate
Estrogens
Estrogens, Conjugated (USP)
Estrogens, Esterified (USP)
Estrone
estropipate
Ethinyl Estradiol
polyestradiol
polyestradiol phosphate
Sodium estrone sulfate
synthetic conjugated estrogens, A
synthetic conjugated estrogens, B

Genetic Tests for Ovarian Dysgenesis 1

Genetic tests related to Ovarian Dysgenesis 1:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 1 29 FSHR

Anatomical Context for Ovarian Dysgenesis 1

MalaCards organs/tissues related to Ovarian Dysgenesis 1:

41
Ovary, Bone

Publications for Ovarian Dysgenesis 1

Articles related to Ovarian Dysgenesis 1:

(showing 56, show less)
# Title Authors PMID Year
1
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 9 8 71
7553856 1995
2
The genetics of XX gonadal dysgenesis. 38 8 71
8178824 1994
3
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. 8 71
20087398 2010
4
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 8 71
11889179 2002
5
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. 8 71
9769327 1998
6
Contemporary issues in primary amenorrhea. 38 8
12836721 2003
7
Familial 46,XX gonadal dysgenesis. 38 8
7202756 1981
8
Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. 38 8
5173165 1971
9
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. 71
12915623 2003
10
Database for the mutations of the Finnish disease heritage. 71
11754099 2002
11
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. 71
9851774 1998
12
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. 71
9020851 1997
13
Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. 8
8826428 1996
14
Disease gene mapping in isolated human populations: the example of Finland. 8
8230163 1993
15
Familial ovarian dysgenesis in 46,XX females. 8
6779629 1980
16
Pure gonadal dysgenesis and ovarian dysplasia in sisters. 8
5412860 1970
17
Gonadal dysgenesis as an autosomal recessive condition. 8
5794832 1969
18
Gonadal dysgenesis in three sisters. 8
13819997 1959
19
[Turner syndrome in two sisters born of first cousins; pathogenetic considerations]. 8
13340295 1956
20
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. 38
29240891 2018
21
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population. 38
28821302 2017
22
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH). 38
27824615 2016
23
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. 38
28216916 2016
24
"It's Part of Me, Not All of Me": Young Women's Experiences of Receiving a Diagnosis Related to Diverse Sex Development. 38
26639995 2016
25
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. 38
26911863 2016
26
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 38
26485283 2015
27
Pure gonadal dysgenesis (46 XX type) with a familial pattern. 38
26430655 2015
28
[Genetic aspects of fertility disorders]. 38
24337126 2013
29
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 38
22907560 2012
30
Mutations in NR5A1 associated with ovarian insufficiency. 38
19246354 2009
31
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. 38
17826728 2008
32
A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism. 38
17371475 2007
33
Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. 9
16864747 2006
34
[Primary amenorrhea: constitutional delayed puberty or hormonal disturbance]. 38
16875262 2006
35
[XY type gonadal dysgenesis, trisomy X and variants]. 38
14968537 2004
36
No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis. 38
11223847 2001
37
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. 38
11223846 2001
38
Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. 38
10946905 2000
39
Ovarian differentiation and gonadal failure. 38
10727994 1999
40
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. 38
10325262 1999
41
Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. 38
9696229 1998
42
Experience of Laparoscopic Exploration and Gonadectomy in lntersex Children. 38
18493463 1998
43
[Etiological, clinical and hormonal characteristics of a group of patients with permanent hypogonadism]. 38
9297397 1997
44
Final height of girls with Turner's syndrome: correlation with karyotype and parental height. 38
7633152 1995
45
[XX gonadal dysgenesis]. 38
7757751 1993
46
Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). 38
1518022 1992
47
Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. 38
1598993 1992
48
46,XX gonadal dysgenesis with epibulbar dermoid. 38
1909490 1991
49
Familial 46,XX gonadal dysgenesis. 38
2880817 1987
50
[Pure 46 XX gonadal dysgenesis: apropos of a case with an atypical presentation]. 38
3738040 1986
51
Pure XX gonadal dysgenesis in identical twins. 38
6809371 1982
52
Hormonal and cytogenetic studies in phenotypically female patients with gonadal dysgenesis. 38
6119241 1981
53
46,XX gonadal dysgenesis associated with congenital nerve deafness. 38
42575 1979
54
Twins discordant for 46,XX gonadal dysgenesis. 38
557003 1977
55
46, XX gonadal dysgenesis and ovarian hypoplasia. 38
4844641 1974
56
[XO-XX gonadal dysgenesis]. 38
5853415 1965

Variations for Ovarian Dysgenesis 1

ClinVar genetic disease variations for Ovarian Dysgenesis 1:

6 (showing 11, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FSHR NM_000145.3(FSHR): c.1717C> T (p.Arg573Cys) single nucleotide variant Pathogenic rs121909660 2:49190243-49190243 2:48963104-48963104
2 FSHR NM_000145.3(FSHR): c.1255G> A (p.Ala419Thr) single nucleotide variant Pathogenic rs121909661 2:49190705-49190705 2:48963566-48963566
3 FSHR NM_000145.3(FSHR): c.1555C> A (p.Pro519Thr) single nucleotide variant Pathogenic rs121909662 2:49190405-49190405 2:48963266-48963266
4 FSHR NM_000145.3(FSHR): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909658 2:49210264-49210264 2:48983125-48983125
5 FSHR NM_000145.3(FSHR): c.1760C> A (p.Pro587His) single nucleotide variant Pathogenic/Likely pathogenic rs386833512 2:49190200-49190200 2:48963061-48963061
6 FSHR NM_000145.3(FSHR): c.1043C> G (p.Pro348Arg) single nucleotide variant Likely pathogenic rs386833510 2:49190917-49190917 2:48963778-48963778
7 FSHR NM_000145.3(FSHR): c.1724C> T (p.Ala575Val) single nucleotide variant Likely pathogenic rs386833511 2:49190236-49190236 2:48963097-48963097
8 FSHR NM_000145.3(FSHR): c.1801C> G (p.Leu601Val) single nucleotide variant Likely pathogenic rs386833513 2:49190159-49190159 2:48963020-48963020
9 FSHR NM_000145.3(FSHR): c.662T> G (p.Val221Gly) single nucleotide variant Likely pathogenic rs386833514 2:49210057-49210057 2:48982918-48982918
10 FSHR NM_000145.3(FSHR): c.671A> T (p.Asp224Val) single nucleotide variant Likely pathogenic rs386833515 2:49196020-49196020 2:48968881-48968881
11 FSHR NM_000145.3(FSHR): c.479T> C (p.Ile160Thr) single nucleotide variant Likely pathogenic rs121909659 2:49216161-49216161 2:48989022-48989022

UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 1:

74 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 FSHR p.Ile160Thr VAR_018045
2 FSHR p.Ala189Val VAR_018046
3 FSHR p.Ala419Thr VAR_018047
4 FSHR p.Arg573Cys VAR_018048
5 FSHR p.Asp224Val VAR_039280
6 FSHR p.Pro348Arg VAR_039281
7 FSHR p.Pro519Thr VAR_039283
8 FSHR p.Leu601Val VAR_039286

Expression for Ovarian Dysgenesis 1

Search GEO for disease gene expression data for Ovarian Dysgenesis 1.

Pathways for Ovarian Dysgenesis 1

GO Terms for Ovarian Dysgenesis 1

Sources for Ovarian Dysgenesis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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51 NDF-RT
54 NINDS
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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