ODG6
MCID: OVR118
MIFTS: 18

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 56 12 73 29 6
Odg6 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ovarian dysgenesis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080498
OMIM 56 618078
OMIM Phenotypic Series 56 PS233300
MeSH 43 D023961
SNOMED-CT via HPO 68 258211005 35850006

Summaries for Ovarian Dysgenesis 6

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 31 HP:0000013

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Ovarian Dysgenesis 6:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 6 29 NUP107

Anatomical Context for Ovarian Dysgenesis 6

MalaCards organs/tissues related to Ovarian Dysgenesis 6:

40
Uterus, Ovary

Publications for Ovarian Dysgenesis 6

Articles related to Ovarian Dysgenesis 6:

# Title Authors PMID Year
1
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. 6 56
26485283 2015

Variations for Ovarian Dysgenesis 6

ClinVar genetic disease variations for Ovarian Dysgenesis 6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUP107 NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn)SNV Pathogenic 559482 rs1555178358 12:69115648-69115648 12:68721868-68721868

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

73
# Symbol AA change Variation ID SNP ID
1 NUP107 p.Asp447Asn VAR_078571 rs155517835

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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