ODG6
MCID: OVR118
MIFTS: 15

Ovarian Dysgenesis 6 (ODG6)

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

Aliases & Classifications for Ovarian Dysgenesis 6

MalaCards integrated aliases for Ovarian Dysgenesis 6:

Name: Ovarian Dysgenesis 6 58 12 76 6
Odg6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
male fertility does not appear to be affected
based on report of one palestinian family (last curated august 2018)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080498
OMIM 58 618078
MeSH 45 D023961
MedGen 43 CN252687
SNOMED-CT via HPO 70 35850006

Summaries for Ovarian Dysgenesis 6

OMIM : 58 Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). (618078)

MalaCards based summary : Ovarian Dysgenesis 6, is also known as odg6. An important gene associated with Ovarian Dysgenesis 6 is NUP107 (Nucleoporin 107). Affiliated tissues include uterus and ovary, and related phenotype is hypoplasia of the uterus.

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the NUP107 gene on chromosome 12q15.

UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 6: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG6 is an autosomal recessive condition.

Related Diseases for Ovarian Dysgenesis 6

Symptoms & Phenotypes for Ovarian Dysgenesis 6

Human phenotypes related to Ovarian Dysgenesis 6:

33
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 33 HP:0000013

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
small uterus
absent or streak ovaries

Endocrine Features:
no spontaneous puberty
elevated luteinizing hormone (lh, see ) levels
elevated follicle-stimulating hormone (fsh, see ) levels

Clinical features from OMIM:

618078

Drugs & Therapeutics for Ovarian Dysgenesis 6

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 6

Genetic Tests for Ovarian Dysgenesis 6

Anatomical Context for Ovarian Dysgenesis 6

MalaCards organs/tissues related to Ovarian Dysgenesis 6:

42
Uterus, Ovary

Publications for Ovarian Dysgenesis 6

Variations for Ovarian Dysgenesis 6

UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 6:

76
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp447Asn VAR_078571

ClinVar genetic disease variations for Ovarian Dysgenesis 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP107 NM_020401.3(NUP107): c.1339G> A (p.Asp447Asn) single nucleotide variant Pathogenic rs1555178358 GRCh37 Chromosome 12, 69115648: 69115648
2 NUP107 NM_020401.3(NUP107): c.1339G> A (p.Asp447Asn) single nucleotide variant Pathogenic rs1555178358 GRCh38 Chromosome 12, 68721868: 68721868

Expression for Ovarian Dysgenesis 6

Search GEO for disease gene expression data for Ovarian Dysgenesis 6.

Pathways for Ovarian Dysgenesis 6

GO Terms for Ovarian Dysgenesis 6

Sources for Ovarian Dysgenesis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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