{"Name":"Female infertility due to oocyte meiotic arrest","DiseaseID__c":"GARD:0017887","id":17887,"encodedName":"female-infertility-due-to-oocyte-meiotic-arrest","IsDeleted":false,"Disease_Name_Full__c":"Female infertility due to oocyte meiotic arrest","Xref_IDs__c":"1172637002; C5567489; MEDGEN:1798912; MONDO:0044626; ORPHA:488191","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:488191","Disease_Description__c":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.","GARD_Name__c":"Female infertility due to oocyte meiotic arrest","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:488191","Curated_Disease_Description__c":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected females have regular menstrual cycles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:488191","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044626","ORPHANET_ID__c":"ORPHA:488191","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infertilidad femenina por arresto meiótico del ovocito","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"infertilidad femenina por arresto meiótico del ovocito","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98047","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected females have regular menstrual cycles.","Curated_Disease_Description_Source__c":"ORPHA:488191","Name":"Female infertility due to oocyte meiotic arrest","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:488191"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:488191"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798912","Source__c":"C5567489","Xref__c":"MEDGEN:1798912"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567489","Source__c":"C5567489","Xref__c":"C5567489"},{"URL__c":"https://www.orpha.net/en/disease/detail/488191","Source__c":"MONDO:0044626","Xref__c":"ORPHA:488191"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172637002","Source__c":"C5567489","Xref__c":"1172637002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044626","Source__c":"GARD:0017887","Xref__c":"MONDO:0044626"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TUBB8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PANX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WEE2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PATL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TLE6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZFP36L2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031516","HPO_Synonym__c":"Metaphase I oocyte meiotic arrest; Oocyte arrest at metaphase I; Oocyte meiotic arrest at metaphase I","HPO_Name__c":"Metaphase I oocyte maturation arrest","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031515","HPO_Name__c":"Abnormal meiosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008222","HPO_Synonym__c":"Female infertility","HPO_Name__c":"Female infertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488191","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the female germ cell (egg cell).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020155","HPO_Name__c":"Abnormal oocyte morphology","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Pediatrics"],"Account":["Infertility"]},"synonyms":[""]}