{"Name":"Hypergonadotropic hypogonadism-cataract syndrome","DiseaseID__c":"GARD:0000298","id":298,"encodedName":"hypergonadotropic-hypogonadism-cataract-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypergonadotropic hypogonadism-cataract syndrome","Xref_IDs__c":"721233005; C1855859; C543092; MEDGEN:344596; MONDO:0009417; OMIM:240950; ORPHA:2410","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009417","Disease_Description__c":"A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.","GARD_Name__c":"Hypergonadotropic hypogonadism-cataract syndrome","GARD_Synonym__c":"cataract and testicular failure syndrome; cataracts and testicular failure; hypergonadotropic hypogonadism with cataract syndrome; lubinsky syndrome","Curated_Disease_Description_Source__c":"MONDO:0009417","Curated_Disease_Description__c":"A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:2410","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009417","ORPHANET_ID__c":"ORPHA:2410","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipogonadismo hipergonadotrópico-cataratas","Spanish_Description_Source__c":"ORPHA:2410","Spanish_Description__c":"Es una enfermedad endocrina sindrómica poco frecuente que se caracteriza por la asociación de hipogonadismo hipergonadotrópico y cataratas, con inicio durante la adolescencia.","Spanish_Disease_Name__c":"síndrome de hipogonadismo hipergonadotrópico-cataratas","Spanish_GARD_Synonym__c":"síndrome de lubinsky","Category_Linearization__c":"ORPHA:93890","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 syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.","Curated_Disease_Description_Source__c":"MONDO:0009417","GARD_Synonym__c":"cataract and testicular failure syndrome; cataracts and testicular failure; hypergonadotropic hypogonadism with cataract syndrome; lubinsky syndrome","Name":"Hypergonadotropic hypogonadism-cataract syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2410"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C543092","Source__c":"MONDO:0009417","Xref__c":"C543092"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721233005","Source__c":"C1855859; MONDO:0009417","Xref__c":"721233005"},{"URL__c":"https://www.orpha.net/en/disease/detail/2410","Source__c":"C1855859; MONDO:0009417; ORPHA:2410","Xref__c":"ORPHA:2410"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344596","Source__c":"C1855859","Xref__c":"MEDGEN:344596"},{"URL__c":"https://www.omim.org/entry/240950","Source__c":"C1855859; MONDO:0009417; ORPHA:2410","Xref__c":"OMIM:240950"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855859","Source__c":"C1855859","Xref__c":"C1855859"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009417","Source__c":"GARD:0000298","Xref__c":"MONDO:0009417"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000786","HPO_Name__c":"Primary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008240","HPO_Name__c":"Secondary growth hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2410","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"No secondary sexual characteristics are present at puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008187","HPO_Synonym__c":"No secondary sexual characteristics at puberty","HPO_Name__c":"Absence of secondary sex characteristics","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Ophthalmology","Endocrine","Urologist","Anterior segment of Eye","Pediatrics"],"Account":["Infertility"]},"synonyms":["cataract and testicular failure syndrome"," cataracts and testicular failure"," hypergonadotropic hypogonadism with cataract syndrome"," lubinsky syndrome"]}