{"Name":"Hypogonadotropic hypogonadism 5 with or without anosmia","DiseaseID__c":"GARD:0010773","id":10773,"encodedName":"hypogonadotropic-hypogonadism-5-with-or-without-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism 5 with or without anosmia","Xref_IDs__c":"C3552553; C567220; DOID:0090084; MEDGEN:765467; MONDO:0012880; OMIM:612370","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:0012880","Disease_Description__c":"Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.","GARD_Name__c":"Hypogonadotropic hypogonadism 5 with or without anosmia","GARD_Synonym__c":"chd7 hypogonadotropic hypogonadism; hypogonadotrophic hypogonadism 5 without anosmia; hypogonadotropic hypogonadism 5 with anosmia; hypogonadotropic hypogonadism caused by mutation in chd7; kal5","Curated_Disease_Description_Source__c":"MEDGEN:C3552553","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:612370","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012880","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:C3552553","GARD_Synonym__c":"chd7 hypogonadotropic hypogonadism; hypogonadotrophic hypogonadism 5 without anosmia; hypogonadotropic hypogonadism 5 with anosmia; hypogonadotropic hypogonadism caused by mutation in chd7; kal5","Name":"Hypogonadotropic hypogonadism 5 with or without anosmia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pituitary Foundation","Website__c":"https://www.pituitary.org.uk/"},{"Account_Name__c":"GNRH Network","Website__c":"https://www.chuv.ch/en/hhn/hhn-home/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3552553"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010773","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1117","Source__c":"Gene Review","Xref__c":"NBK1117"},{"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/medgen/?term=765467","Source__c":"C3552553","Xref__c":"MEDGEN:765467"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567220","Source__c":"MONDO:0012880","Xref__c":"C567220"},{"URL__c":"https://www.omim.org/entry/612370","Source__c":"C3552553; MONDO:0012880","Xref__c":"OMIM:612370"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090084","Source__c":"MONDO:0012880","Xref__c":"DOID:0090084"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3552553","Source__c":"C3552553","Xref__c":"C3552553"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012880","Source__c":"GARD:0010773","Xref__c":"MONDO:0012880"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHD7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/chd7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612370","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612370","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:612370","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:612370","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612370","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:612370","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["chd7 hypogonadotropic hypogonadism"," hypogonadotrophic hypogonadism 5 without anosmia"," hypogonadotropic hypogonadism 5 with anosmia"," hypogonadotropic hypogonadism caused by mutation in chd7"," kal5"]}