ODG1
MCID: OVR075
MIFTS: 34

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 58 12 76 30 13 6
Xx Gonadal Dysgenesis 58 76 56
Gonadal Dysgenesis, Xx Type 58 77
Odg1 58 76
Xxgd 58 76
Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype 58
Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive 58
Hypergonadotropic Ovarian Dysgenesis with Normal Karyotype 76
Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive 76
Ovarian Failure, Hypergonadotropic 58
Hypergonadotropic Ovarian Failure 76
Xx Gonadal Dysgenesis; Xxgd 58
Dysgenesis, Ovarian, Type 1 41
Ovarian Failure, Premature 74
Gonadal Dysgenesis Xx Type 76
Gonadal Dysgenesis, 46,xx 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ovarian dysgenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080493
OMIM 58 233300
MeSH 45 D023961

Summaries for Ovarian Dysgenesis 1

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include ovary, 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 : 58 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 : 77 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:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 33 HP:0000939
2 increased circulating gonadotropin level 33 HP:0000837
3 primary amenorrhea 33 HP:0000786
4 gonadal dysgenesis 33 HP:0000133

Symptoms via clinical synopsis from OMIM:

58
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

Genetic Tests for Ovarian Dysgenesis 1

Genetic tests related to Ovarian Dysgenesis 1:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 1 30 FSHR

Anatomical Context for Ovarian Dysgenesis 1

MalaCards organs/tissues related to Ovarian Dysgenesis 1:

42
Ovary

Publications for Ovarian Dysgenesis 1

Articles related to Ovarian Dysgenesis 1:

(showing 22, show less)
# Title Authors Year
1
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
2
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. ( 26485283 )
2015
3
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. ( 22907560 )
2012
4
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. ( 20087398 )
2010
5
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. ( 17826728 )
2008
6
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. ( 12915623 )
2003
7
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. ( 11889179 )
2002
8
Database for the mutations of the Finnish disease heritage. ( 11754099 )
2002
9
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. ( 11223846 )
2001
10
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. ( 10325262 )
1999
11
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. ( 9769327 )
1998
12
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. ( 9851774 )
1998
13
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. ( 9020851 )
1997
14
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. ( 7553856 )
1995
15
The genetics of XX gonadal dysgenesis. ( 8178824 )
1994
16
46,XX gonadal dysgenesis with epibulbar dermoid. ( 1909490 )
1991
17
Familial 46,XX gonadal dysgenesis. ( 2880817 )
1987
18
Pure XX gonadal dysgenesis in identical twins. ( 6809371 )
1982
19
Familial 46,XX gonadal dysgenesis. ( 7202756 )
1981
20
46,XX gonadal dysgenesis associated with congenital nerve deafness. ( 42575 )
1979
21
Twins discordant for 46,XX gonadal dysgenesis. ( 557003 )
1977
22
46, XX gonadal dysgenesis and ovarian hypoplasia. ( 4844641 )
1974

Variations for Ovarian Dysgenesis 1

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

76 (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

ClinVar genetic disease variations for Ovarian Dysgenesis 1:

6 (showing 22, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 FSHR NM_000145.3(FSHR): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909658 GRCh37 Chromosome 2, 49210264: 49210264
2 FSHR NM_000145.3(FSHR): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909658 GRCh38 Chromosome 2, 48983125: 48983125
3 FSHR NM_000145.3(FSHR): c.479T> C (p.Ile160Thr) single nucleotide variant Likely pathogenic rs121909659 GRCh37 Chromosome 2, 49216161: 49216161
4 FSHR NM_000145.3(FSHR): c.479T> C (p.Ile160Thr) single nucleotide variant Likely pathogenic rs121909659 GRCh38 Chromosome 2, 48989022: 48989022
5 FSHR NM_000145.3(FSHR): c.1717C> T (p.Arg573Cys) single nucleotide variant Pathogenic rs121909660 GRCh37 Chromosome 2, 49190243: 49190243
6 FSHR NM_000145.3(FSHR): c.1717C> T (p.Arg573Cys) single nucleotide variant Pathogenic rs121909660 GRCh38 Chromosome 2, 48963104: 48963104
7 FSHR NM_000145.3(FSHR): c.1255G> A (p.Ala419Thr) single nucleotide variant Pathogenic rs121909661 GRCh37 Chromosome 2, 49190705: 49190705
8 FSHR NM_000145.3(FSHR): c.1255G> A (p.Ala419Thr) single nucleotide variant Pathogenic rs121909661 GRCh38 Chromosome 2, 48963566: 48963566
9 FSHR NM_000145.3(FSHR): c.1555C> A (p.Pro519Thr) single nucleotide variant Pathogenic rs121909662 GRCh37 Chromosome 2, 49190405: 49190405
10 FSHR NM_000145.3(FSHR): c.1555C> A (p.Pro519Thr) single nucleotide variant Pathogenic rs121909662 GRCh38 Chromosome 2, 48963266: 48963266
11 FSHR NM_000145.3(FSHR): c.1760C> A (p.Pro587His) single nucleotide variant Pathogenic/Likely pathogenic rs386833512 GRCh38 Chromosome 2, 48963061: 48963061
12 FSHR NM_000145.3(FSHR): c.1760C> A (p.Pro587His) single nucleotide variant Pathogenic/Likely pathogenic rs386833512 GRCh37 Chromosome 2, 49190200: 49190200
13 FSHR NM_000145.3(FSHR): c.1043C> G (p.Pro348Arg) single nucleotide variant Likely pathogenic rs386833510 GRCh37 Chromosome 2, 49190917: 49190917
14 FSHR NM_000145.3(FSHR): c.1043C> G (p.Pro348Arg) single nucleotide variant Likely pathogenic rs386833510 GRCh38 Chromosome 2, 48963778: 48963778
15 FSHR NM_000145.3(FSHR): c.1724C> T (p.Ala575Val) single nucleotide variant Likely pathogenic rs386833511 GRCh37 Chromosome 2, 49190236: 49190236
16 FSHR NM_000145.3(FSHR): c.1724C> T (p.Ala575Val) single nucleotide variant Likely pathogenic rs386833511 GRCh38 Chromosome 2, 48963097: 48963097
17 FSHR NM_000145.3(FSHR): c.1801C> G (p.Leu601Val) single nucleotide variant Likely pathogenic rs386833513 GRCh37 Chromosome 2, 49190159: 49190159
18 FSHR NM_000145.3(FSHR): c.1801C> G (p.Leu601Val) single nucleotide variant Likely pathogenic rs386833513 GRCh38 Chromosome 2, 48963020: 48963020
19 FSHR NM_000145.3(FSHR): c.662T> G (p.Val221Gly) single nucleotide variant Likely pathogenic rs386833514 GRCh37 Chromosome 2, 49210057: 49210057
20 FSHR NM_000145.3(FSHR): c.662T> G (p.Val221Gly) single nucleotide variant Likely pathogenic rs386833514 GRCh38 Chromosome 2, 48982918: 48982918
21 FSHR NM_000145.3(FSHR): c.671A> T (p.Asp224Val) single nucleotide variant Likely pathogenic rs386833515 GRCh37 Chromosome 2, 49196020: 49196020
22 FSHR NM_000145.3(FSHR): c.671A> T (p.Asp224Val) single nucleotide variant Likely pathogenic rs386833515 GRCh38 Chromosome 2, 48968881: 48968881

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

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