ODG4
MCID: OVR107
MIFTS: 23
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Ovarian Dysgenesis 4 (ODG4)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Ovarian Dysgenesis 4:
Characteristics:Orphanet epidemiological data:58
46,xx ovarian dysgenesis-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Reproductive diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
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 ovary, 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. |
Diseases in the Ovarian Dysgenesis 1 family:
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Human phenotypes related to Ovarian Dysgenesis 4:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616185 |
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MalaCards organs/tissues related to Ovarian Dysgenesis 4:40
Bone,
Breast,
Ovary,
Uterus
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Articles related to Ovarian Dysgenesis 4:
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ClinVar genetic disease variations for Ovarian Dysgenesis 4:6
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Search
GEO
for disease gene expression data for Ovarian Dysgenesis 4.
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