ODG6
MCID: OVR118
MIFTS: 13

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 57 6
Odg6 57

Characteristics:

OMIM:

57
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:

OMIM 57 618078
SNOMED-CT via HPO 69 35850006

Summaries for Ovarian Dysgenesis 6

OMIM : 57 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). (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.

Related Diseases for Ovarian Dysgenesis 6

Symptoms & Phenotypes for Ovarian Dysgenesis 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ovarian Dysgenesis 6:

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013

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:

41
Uterus, Ovary

Publications for Ovarian Dysgenesis 6

Variations for Ovarian Dysgenesis 6

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 GRCh37 Chromosome 12, 69115648: 69115648
2 NUP107 NM_020401.3(NUP107): c.1339G> A (p.Asp447Asn) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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