MCID: OVR075
MIFTS: 31

Ovarian Dysgenesis 1

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

Aliases & Classifications for Ovarian Dysgenesis 1

MalaCards integrated aliases for Ovarian Dysgenesis 1:

Name: Ovarian Dysgenesis 1 57 75 29 13 6
Xx Gonadal Dysgenesis 57 75 55
Gonadal Dysgenesis, Xx Type 57 76
Odg1 57 75
Xxgd 57 75
Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype 57
Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive 57
Hypergonadotropic Ovarian Dysgenesis with Normal Karyotype 75
Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive 75
Ovarian Failure, Hypergonadotropic 57
Hypergonadotropic Ovarian Failure 75
Xx Gonadal Dysgenesis; Xxgd 57
Dysgenesis, Ovarian, Type 1 40
Ovarian Failure, Premature 73
Gonadal Dysgenesis Xx Type 75
Gonadal Dysgenesis, 46,xx 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ovarian dysgenesis 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 233300
MeSH 44 D023961

Summaries for Ovarian Dysgenesis 1

UniProtKB/Swiss-Prot : 75 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 gonadal dysgenesis and primary amenorrhea

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

Related Diseases for Ovarian Dysgenesis 1

Diseases in the Ovarian Dysgenesis 2 family:

Ovarian Dysgenesis 1 Ovarian Dysgenesis 3
Ovarian Dysgenesis 4 Ovarian Dysgenesis 5

Diseases related to Ovarian Dysgenesis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46 xx gonadal dysgenesis 12.3
2 hypergonadotropic ovarian failure, familial or sporadic 12.2
3 perrault syndrome 11.6
4 perrault syndrome 1 11.5
5 premature ovarian failure 1 11.0
6 gonadal dysgenesis 10.4

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



Diseases related to Ovarian Dysgenesis 1

Symptoms & Phenotypes for Ovarian Dysgenesis 1

Symptoms via clinical synopsis from OMIM:

57
GU:
gonadal dysgenesis
primary amenorrhea
streak gonads

Endo:
elevated gonadotropins

Skel:
osteoporosis


Clinical features from OMIM:

233300

Human phenotypes related to Ovarian Dysgenesis 1:

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

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 29 FSHR

Anatomical Context for Ovarian Dysgenesis 1

MalaCards organs/tissues related to Ovarian Dysgenesis 1:

41
Ovary

Publications for Ovarian Dysgenesis 1

Articles related to Ovarian Dysgenesis 1:

# Title Authors Year
1
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. ( 26485283 )
2015
2
Genetics: Mutation implicated in XX gonadal dysgenesis. ( 26525876 )
2015
3
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. ( 17826728 )
2008
4
The genetics of XX gonadal dysgenesis. ( 8178824 )
1994
5
Pure XX gonadal dysgenesis in identical twins. ( 6809371 )
1982

Variations for Ovarian Dysgenesis 1

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

75
# 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
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FSHR NM_000145.3(FSHR): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909658 GRCh38 Chromosome 2, 48983125: 48983125
2 FSHR NM_000145.3(FSHR): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909658 GRCh37 Chromosome 2, 49210264: 49210264
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 GRCh37 Chromosome 2, 49190200: 49190200
12 FSHR NM_000145.3(FSHR): c.1760C> A (p.Pro587His) single nucleotide variant Pathogenic/Likely pathogenic rs386833512 GRCh38 Chromosome 2, 48963061: 48963061
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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