ODG4
MCID: OVR107
MIFTS: 22

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 58 12 76 30 6 74
Odg4 58 76
46,xx Ovarian Dysgenesis-Short Stature Syndrome 60
Dysgenesis, Ovarian, Type 4 41

Characteristics:

Orphanet epidemiological data:

60
46,xx ovarian dysgenesis-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ovarian dysgenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080496
OMIM 58 616185
MeSH 45 D023961
ICD10 via Orphanet 35 Q96.8
Orphanet 60 ORPHA444048
UMLS 74 C4015409

Summaries for Ovarian Dysgenesis 4

UniProtKB/Swiss-Prot : 76 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, ovary 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.

Description from OMIM: 616185

Related Diseases for Ovarian Dysgenesis 4

Symptoms & Phenotypes for Ovarian Dysgenesis 4

Human phenotypes related to Ovarian Dysgenesis 4:

33
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 33 HP:0002750
2 short stature 33 HP:0004322
3 primary amenorrhea 33 HP:0000786
4 decreased body weight 33 HP:0004325

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MCM9

Anatomical Context for Ovarian Dysgenesis 4

MalaCards organs/tissues related to Ovarian Dysgenesis 4:

42
Bone, Ovary, Uterus

Publications for Ovarian Dysgenesis 4

Articles related to Ovarian Dysgenesis 4:

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

Variations for Ovarian Dysgenesis 4

ClinVar genetic disease variations for Ovarian Dysgenesis 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh38 Chromosome 6, 118827925: 118827925
2 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh37 Chromosome 6, 119149088: 119149088
3 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh38 Chromosome 6, 118924038: 118924038
4 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh37 Chromosome 6, 119245203: 119245203
5 MCM9 NM_017696.2(MCM9): c.1483G> T (p.Glu495Ter) single nucleotide variant Pathogenic rs1060505058 GRCh38 Chromosome 6, 118829093: 118829093
6 MCM9 NM_017696.2(MCM9): c.1483G> T (p.Glu495Ter) single nucleotide variant Pathogenic rs1060505058 GRCh37 Chromosome 6, 119150256: 119150256

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
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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