Ovarian Dysgenesis 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Turner syndrome

Other variants of Turner syndrome

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

MedGen ⁴¹ C4015409 CN225030

SNOMED-CT via HPO ⁶⁸ 123983008 161832001 237836003 more

UMLS ⁷⁰ C4015409

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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

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Related Diseases for Ovarian Dysgenesis 4

Diseases in the Ovarian Dysgenesis 1 family:

Ovarian Dysgenesis 2	Ovarian Dysgenesis 3
Ovarian Dysgenesis 4	Ovarian Dysgenesis 5
Ovarian Dysgenesis 6	Ovarian Dysgenesis 7
Ovarian Dysgenesis 8

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Symptoms & Phenotypes for Ovarian Dysgenesis 4

Human phenotypes related to Ovarian Dysgenesis 4:

³¹

#	Description	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)

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Drugs & Therapeutics for Ovarian Dysgenesis 4

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 4

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Genetic Tests for Ovarian Dysgenesis 4

Genetic tests related to Ovarian Dysgenesis 4:

#	Genetic test	Affiliating Genes
1	Ovarian Dysgenesis 4 ²⁹	MCM9

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Anatomical Context for Ovarian Dysgenesis 4

MalaCards organs/tissues related to Ovarian Dysgenesis 4:

⁴⁰

Bone, Breast, Uterus

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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	Fauchereau F...Veitia RA	26771056	2016
2	MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. ⁵⁷ ⁶	Wood-Trageser MA...Rajkovic A	25480036	2014

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Genes for Ovarian Dysgenesis 4

Genes related to Ovarian Dysgenesis 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MCM9	Minichromosome Maintenance 9 Homologous Recombination Repair Factor	Protein Coding	1366.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26771056 25480036

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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

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Expression for Ovarian Dysgenesis 4

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

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Pathways for Ovarian Dysgenesis 4

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GO Terms for Ovarian Dysgenesis 4

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Sources for Ovarian Dysgenesis 4

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⁵⁷ OMIM® (Updated 05-Apr-2021)

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Ovarian Dysgenesis 4 (ODG4)

Aliases & Classifications for Ovarian Dysgenesis 4

MalaCards integrated aliases for Ovarian Dysgenesis 4:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Ovarian Dysgenesis 4

Related Diseases for Ovarian Dysgenesis 4

Diseases in the Ovarian Dysgenesis 1 family:

Symptoms & Phenotypes for Ovarian Dysgenesis 4

Human phenotypes related to Ovarian Dysgenesis 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Ovarian Dysgenesis 4

Genetic Tests for Ovarian Dysgenesis 4

Genetic tests related to Ovarian Dysgenesis 4:

Anatomical Context for Ovarian Dysgenesis 4

MalaCards organs/tissues related to Ovarian Dysgenesis 4:

Publications for Ovarian Dysgenesis 4

Articles related to Ovarian Dysgenesis 4:

Genes for Ovarian Dysgenesis 4

Genes related to Ovarian Dysgenesis 4 (1 elite genes):

Variations for Ovarian Dysgenesis 4

ClinVar genetic disease variations for Ovarian Dysgenesis 4:

Expression for Ovarian Dysgenesis 4

Pathways for Ovarian Dysgenesis 4

GO Terms for Ovarian Dysgenesis 4

Sources for Ovarian Dysgenesis 4