{"Name":"Hypogonadotropic hypogonadism 12 with or without anosmia","DiseaseID__c":"GARD:0000276","id":276,"encodedName":"hypogonadotropic-hypogonadism-12-with-or-without-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism 12 with or without anosmia","Xref_IDs__c":"C1856897; C535764; DOID:0090072; MEDGEN:347328; MONDO:0013914; OMIM:614841","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013914","Disease_Description__c":"A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.","GARD_Name__c":"Hypogonadotropic hypogonadism 12 with or without anosmia","GARD_Synonym__c":"eunuchoidism, familial hypogonadotropic; familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency; gonadotropin deficiency familial idiopathic; hh12","Curated_Disease_Description_Source__c":"MEDGEN:C1856897","Curated_Disease_Description__c":"Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614841","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013914","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.","Curated_Disease_Description_Source__c":"MEDGEN:C1856897","GARD_Synonym__c":"eunuchoidism, familial hypogonadotropic; familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency; gonadotropin deficiency familial idiopathic; hh12","Name":"Hypogonadotropic hypogonadism 12 with or without anosmia","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1856897"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000276","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1334","Source__c":"Gene Review","Xref__c":"NBK1334"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535764","Source__c":"MONDO:0013914","Xref__c":"C535764"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856897","Source__c":"C1856897","Xref__c":"C1856897"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090072","Source__c":"MONDO:0013914","Xref__c":"DOID:0090072"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347328","Source__c":"C1856897","Xref__c":"MEDGEN:347328"},{"URL__c":"https://www.omim.org/entry/614841","Source__c":"C1856897; MONDO:0013914","Xref__c":"OMIM:614841"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013914","Source__c":"GARD:0000276","Xref__c":"MONDO:0013914"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNRH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614841","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":"OMIM:614841","Feature__r":{"HPO_Description__c":"Absence of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002555","HPO_Synonym__c":"Absent pubic hair","HPO_Name__c":"Absent pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","Feature__r":{"HPO_Description__c":"A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030339","HPO_Synonym__c":"Decreased circulating gonadotropin level","HPO_Name__c":"Decreased circulating gonadotropin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","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":"OMIM:614841","Feature__r":{"HPO_Description__c":"Underdevelopment of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000013","HPO_Synonym__c":"Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus","HPO_Name__c":"Hypoplasia of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","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":"OMIM:614841","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:614841","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008724","HPO_Synonym__c":"Hypoplastic ovary; Underdeveloped ovary","HPO_Name__c":"Hypoplasia of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","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":"OMIM:614841","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614841","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":"OMIM:614841","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"}}],"tags":{},"synonyms":["eunuchoidism, familial hypogonadotropic"," familial hypogonadotrophic eunuchoidism"," familial idiopathic gonadotrpin deficiency"," gonadotropin deficiency familial idiopathic"," hh12"]}