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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Turner syndrome

Other variants of Turner syndrome

Orphanet: ⁶⁰

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080496

OMIM ⁵⁸ 616185

MeSH ⁴⁵ D023961

ICD10 via Orphanet ³⁵ Q96.8

Orphanet ⁶⁰ ORPHA444048

MedGen ⁴³ C4015409 CN225030

SNOMED-CT via HPO ⁷⁰ 123983008 161832001 237836003 more

UMLS ⁷⁴ C4015409

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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

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Related Diseases for Ovarian Dysgenesis 4

Diseases in the Ovarian Dysgenesis 2 family:

Ovarian Dysgenesis 1	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:

³³

#	Description	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

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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 ³⁰	MCM9

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Anatomical Context for Ovarian Dysgenesis 4

MalaCards organs/tissues related to Ovarian Dysgenesis 4:

⁴²

Bone, Ovary, Uterus

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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 )	Fauchereau F...Veitia RA	2016
2	MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. ( 25480036 )	Wood-Trageser MA...Rajkovic A	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	PubmedIds
1	MCM9	Minichromosome Maintenance 9 Homologous Recombination Repair Factor	Protein Coding	1377.41	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25480036 26771056

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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

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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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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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 2 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