MCID: OVR107
MIFTS: 19

Ovarian Dysgenesis 4

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

Aliases & Classifications for Ovarian Dysgenesis 4

MalaCards integrated aliases for Ovarian Dysgenesis 4:

Name: Ovarian Dysgenesis 4 57 75 29 6 73
Odg4 57 75
46,xx Ovarian Dysgenesis-Short Stature Syndrome 59
Dysgenesis, Ovarian, Type 4 40

Characteristics:

Orphanet epidemiological data:

59
46,xx ovarian dysgenesis-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ovarian dysgenesis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616185
Orphanet 59 ORPHA444048
ICD10 via Orphanet 34 Q96.8
MeSH 44 D023961
UMLS 73 C4015409

Summaries for Ovarian Dysgenesis 4

UniProtKB/Swiss-Prot : 75 Ovarian dysgenesis 4: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

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

Description from OMIM: 616185

Related Diseases for Ovarian Dysgenesis 4

Symptoms & Phenotypes for Ovarian Dysgenesis 4

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Chest Breasts:
lack of breast development

Skeletal:
delayed bone age

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

Growth Weight:
low weight

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

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


Clinical features from OMIM:

616185

Human phenotypes related to Ovarian Dysgenesis 4:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 HP:0002750
2 short stature 32 HP:0004322
3 primary amenorrhea 32 HP:0000786
4 decreased body weight 32 HP:0004325

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:

41
Bone, Ovary, Uterus

Publications for Ovarian Dysgenesis 4

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 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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