{"Name":"Hypogonadotropic hypogonadism 24 without anosmia","DiseaseID__c":"GARD:0010128","id":10128,"encodedName":"hypogonadotropic-hypogonadism-24-without-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism 24 without anosmia","Xref_IDs__c":"758664007; C537070; C5574957; DOID:0090088; MEDGEN:1806136; MONDO:0009239; OMIM:229070; ORPHA:52901","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009239","Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.","GARD_Name__c":"Hypogonadotropic hypogonadism 24 without anosmia","GARD_Synonym__c":"follicle-stimulating hormone deficiency, isolated; fshb hypogonadotropic hypogonadism; hh24; hypogonadotropic hypogonadism 24 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in fshb; isolated follicle stimulating hormone deficiency; isolated follicle-stimulating hormone deficiency; isolated fsh deficiency","Curated_Disease_Description_Source__c":"MONDO:0009239","Curated_Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.","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:52901","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009239","ORPHANET_ID__c":"ORPHA:52901","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia aislada de hormona folículo-estimulante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia aislada de hormona folículo-estimulante","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.","Curated_Disease_Description_Source__c":"MONDO:0009239","GARD_Synonym__c":"follicle-stimulating hormone deficiency, isolated; fshb hypogonadotropic hypogonadism; hh24; hypogonadotropic hypogonadism 24 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in fshb; isolated follicle stimulating hormone deficiency; isolated follicle-stimulating hormone deficiency; isolated fsh deficiency","Name":"Hypogonadotropic hypogonadism 24 without anosmia","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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:52901"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:52901"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1856716"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010128","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1806136","Source__c":"C5574957","Xref__c":"MEDGEN:1806136"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574957","Source__c":"C5574957","Xref__c":"C5574957"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090088","Source__c":"MONDO:0009239","Xref__c":"DOID:0090088"},{"URL__c":"https://www.omim.org/entry/229070","Source__c":"C5574957; MONDO:0009239; ORPHA:52901","Xref__c":"OMIM:229070"},{"URL__c":"https://www.orpha.net/en/disease/detail/52901","Source__c":"C5574957; MONDO:0009239","Xref__c":"ORPHA:52901"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537070","Source__c":"MONDO:0009239","Xref__c":"C537070"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=758664007","Source__c":"MONDO:0009239","Xref__c":"758664007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009239","Source__c":"GARD:0010128","Xref__c":"MONDO:0009239"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FSHB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000026","HPO_Synonym__c":"Decreased function of male gonad","HPO_Name__c":"Male hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","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:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"First period after the age of 15 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012569","HPO_Synonym__c":"Delayed start of first period","HPO_Name__c":"Delayed menarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","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:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the breast on both sides.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012814","HPO_Synonym__c":"Two underdeveloped breasts","HPO_Name__c":"Bilateral breast hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below normal concentration of estradiol in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008214","HPO_Synonym__c":"Decreased serum estradiol","HPO_Name__c":"Decreased serum estradiol","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010791","HPO_Name__c":"Hyperplasia of the Leydig cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of sperm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012864","HPO_Synonym__c":"Abnormal shape of sperm; Teratospermia; Teratozoospermia","HPO_Name__c":"Abnormal sperm morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","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:52901","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Decreased functionality of the female gonads, i.e., of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000134","HPO_Synonym__c":"Hypogonadism, female","HPO_Name__c":"Female hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000029","HPO_Synonym__c":"Testicular degeneration","HPO_Name__c":"Testicular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished sexual desire in female.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030018","HPO_Synonym__c":"Decreased female sex drive","HPO_Name__c":"Decreased female libido","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52901","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008213","HPO_Synonym__c":"Pituitary gonadotropin deficiency","HPO_Name__c":"Gonadotropin deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["follicle-stimulating hormone deficiency, isolated"," fshb hypogonadotropic hypogonadism"," hh24"," hypogonadotropic hypogonadism 24 with or without anosmia"," hypogonadotropic hypogonadism caused by mutation in fshb"," isolated follicle stimulating hormone deficiency"," isolated follicle-stimulating hormone deficiency"," isolated fsh deficiency"]}