ODG5
MCID: OVR115
MIFTS: 21

Ovarian Dysgenesis 5 (ODG5)

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

Aliases & Classifications for Ovarian Dysgenesis 5

MalaCards integrated aliases for Ovarian Dysgenesis 5:

Name: Ovarian Dysgenesis 5 57 12 72 29 6
Odg5 57 72
Dysgenesis, Ovarian, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ovarian dysgenesis 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080497
OMIM® 57 617690
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961

Summaries for Ovarian Dysgenesis 5

UniProtKB/Swiss-Prot : 72 Ovarian dysgenesis 5: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition.

MalaCards based summary : Ovarian Dysgenesis 5, is also known as odg5. An important gene associated with Ovarian Dysgenesis 5 is SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1). Affiliated tissues include uterus and bone, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the SOHLH1 gene on chromosome 9q34.

More information from OMIM: 617690 PS233300

Related Diseases for Ovarian Dysgenesis 5

Symptoms & Phenotypes for Ovarian Dysgenesis 5

Human phenotypes related to Ovarian Dysgenesis 5:

31
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 short stature 31 HP:0004322
3 primary amenorrhea 31 HP:0000786
4 hypoplasia of the uterus 31 HP:0000013

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
hypoplastic or absent ovaries
small uterus (prepubertal or infantile)

Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
reduced estradiol (e2) levels
reduced progesterone level

Growth Height:
short stature (5th to 10th percentile)

Skeletal:
delayed bone age

Chest Breasts:
absent thelarche

Clinical features from OMIM®:

617690 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ovarian Dysgenesis 5

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 5

Genetic Tests for Ovarian Dysgenesis 5

Genetic tests related to Ovarian Dysgenesis 5:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 5 29 SOHLH1

Anatomical Context for Ovarian Dysgenesis 5

MalaCards organs/tissues related to Ovarian Dysgenesis 5:

40
Uterus, Bone

Publications for Ovarian Dysgenesis 5

Articles related to Ovarian Dysgenesis 5:

# Title Authors PMID Year
1
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. 6 57
25774885 2015
2
Case report of two siblings with familial ovarian dysgenesis. 6 57
17301727 2007

Variations for Ovarian Dysgenesis 5

ClinVar genetic disease variations for Ovarian Dysgenesis 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOHLH1 NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) SNV Pathogenic 218902 rs864309646 GRCh37: 9:138591287-138591287
GRCh38: 9:135699441-135699441
2 SOHLH1 NM_001101677.2(SOHLH1):c.705del (p.Lys236fs) Deletion Pathogenic 218901 rs864309645 GRCh37: 9:138587066-138587066
GRCh38: 9:135695220-135695220
3 SOHLH1 NM_001101677.2(SOHLH1):c.745C>T (p.Gln249Ter) SNV Pathogenic 1029080 GRCh37: 9:138587026-138587026
GRCh38: 9:135695180-135695180

Expression for Ovarian Dysgenesis 5

Search GEO for disease gene expression data for Ovarian Dysgenesis 5.

Pathways for Ovarian Dysgenesis 5

GO Terms for Ovarian Dysgenesis 5

Sources for Ovarian Dysgenesis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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