ODG4
MCID: OVR107
MIFTS: 23

Ovarian Dysgenesis 4 (ODG4)

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

Aliases & Classifications for Ovarian Dysgenesis 4

MalaCards integrated aliases for Ovarian Dysgenesis 4:

Name: Ovarian Dysgenesis 4 57 12 72 29 6 70
Odg4 57 72
46,xx Ovarian Dysgenesis-Short Stature Syndrome 58
Dysgenesis, Ovarian, Type 4 39

Characteristics:

Orphanet epidemiological data:

58
46,xx ovarian dysgenesis-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM®:

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


HPO:

31
ovarian dysgenesis 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080496
OMIM® 57 616185
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961
ICD10 via Orphanet 33 Q96.8
Orphanet 58 ORPHA444048
UMLS 70 C4015409

Summaries for Ovarian Dysgenesis 4

UniProtKB/Swiss-Prot : 72 Ovarian dysgenesis 4: 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. ODG4 is an autosomal recessive condition.

MalaCards based summary : Ovarian Dysgenesis 4, is also known as odg4. An important gene associated with Ovarian Dysgenesis 4 is MCM9 (Minichromosome Maintenance 9 Homologous Recombination Repair Factor). Affiliated tissues include bone, breast and uterus, 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 MCM9 gene on chromosome 6q22.

More information from OMIM: 616185 PS233300

Related Diseases for Ovarian Dysgenesis 4

Symptoms & Phenotypes for Ovarian Dysgenesis 4

Human phenotypes related to Ovarian Dysgenesis 4:

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 decreased body weight 31 HP:0004325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal:
delayed bone age

Genitourinary Internal Genitalia Female:
infantile uterus on ultrasound
no visible ovaries on ultrasound

Skin Nails Hair Hair:
delayed development of pubic and axillary hair

Endocrine Features:
primary amenorrhea
low estradiol levels
high luteinizing hormone levels
high follicle-stimulating hormone levels
normal prolactin levels

Growth Weight:
low weight

Chest Breasts:
lack of breast development

Clinical features from OMIM®:

616185 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ovarian Dysgenesis 4

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 4

Genetic Tests for Ovarian Dysgenesis 4

Genetic tests related to Ovarian Dysgenesis 4:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 4 29 MCM9

Anatomical Context for Ovarian Dysgenesis 4

MalaCards organs/tissues related to Ovarian Dysgenesis 4:

40
Bone, Breast, Uterus

Publications for Ovarian Dysgenesis 4

Articles related to Ovarian Dysgenesis 4:

# Title Authors PMID Year
1
A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. 6 57
26771056 2016
2
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. 57 6
25480036 2014

Variations for Ovarian Dysgenesis 4

ClinVar genetic disease variations for Ovarian Dysgenesis 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM9 NM_017696.2(MCM9):c.1483G>T (p.Glu495Ter) SNV Pathogenic 417973 rs1060505058 GRCh37: 6:119150256-119150256
GRCh38: 6:118829093-118829093
2 MCM9 NM_017696.2(MCM9):c.1732+2T>C SNV Pathogenic 156587 rs587777871 GRCh37: 6:119149088-119149088
GRCh38: 6:118827925-118827925
3 MCM9 NM_017696.2(MCM9):c.394C>T (p.Arg132Ter) SNV Pathogenic 156588 rs587777872 GRCh37: 6:119245203-119245203
GRCh38: 6:118924038-118924038
4 MCM9 NM_017696.3(MCM9):c.1016del (p.Gly339fs) Deletion Pathogenic 997480 GRCh37: 6:119234474-119234474
GRCh38: 6:118913309-118913309
5 MCM9 NC_000006.12:g.118931504G>A SNV Uncertain significance 812138 rs760702305 GRCh37: 6:119252669-119252669
GRCh38: 6:118931504-118931504

Expression for Ovarian Dysgenesis 4

Search GEO for disease gene expression data for Ovarian Dysgenesis 4.

Pathways for Ovarian Dysgenesis 4

GO Terms for Ovarian Dysgenesis 4

Sources for Ovarian Dysgenesis 4

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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