{"Name":"Hypogonadotropic hypogonadism 1 with or without anosmia","DiseaseID__c":"GARD:0003071","id":3071,"encodedName":"hypogonadotropic-hypogonadism-1-with-or-without-anosmia","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism 1 with or without anosmia","Xref_IDs__c":"C1563719; C75480; DOID:0090094; MEDGEN:295872; MONDO:0010635; OMIM:308700","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:0010635","Disease_Description__c":"The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.","GARD_Name__c":"Hypogonadotropic hypogonadism 1 with or without anosmia","GARD_Synonym__c":"anos1 hypogonadotropic hypogonadism; hh1; hypogonadotropic hypogonadism 1 with anosmia; hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1); hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive; hypogonadotropic hypogonadism and anosmia; hypogonadotropic hypogonadism caused by mutation in anos1; kallmann syndrome, type 1, x-linked","Curated_Disease_Description_Source__c":"GARD:0003071","Curated_Disease_Description__c":"Hypogonadotropic hypogonadism 1 with or without anosmia is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development. It is caused by genetic changes in the KAL1 gene and is inherited in an X-linked recessive fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:308700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010635","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":"Hypogonadotropic hypogonadism 1 with or without anosmia is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development. It is caused by genetic changes in the KAL1 gene and is inherited in an X-linked recessive fashion.","Curated_Disease_Description_Source__c":"GARD:0003071","GARD_Synonym__c":"anos1 hypogonadotropic hypogonadism; hh1; hypogonadotropic hypogonadism 1 with anosmia; hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1); hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive; hypogonadotropic hypogonadism and anosmia; hypogonadotropic hypogonadism caused by mutation in anos1; kallmann syndrome, type 1, x-linked","Name":"Hypogonadotropic hypogonadism 1 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:C1563719"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003071","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1334","Source__c":"Gene Review","Xref__c":"NBK1334"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090094","Source__c":"MONDO:0010635","Xref__c":"DOID:0090094"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1563719","Source__c":"C1563719","Xref__c":"C1563719"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=295872","Source__c":"C1563719","Xref__c":"MEDGEN:295872"},{"URL__c":"https://www.omim.org/entry/308700","Source__c":"C1563719; MONDO:0010635","Xref__c":"OMIM:308700"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75480","Source__c":"C1563719; MONDO:0010635","Xref__c":"C75480"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010635","Source__c":"GARD:0003071","Xref__c":"MONDO:0010635"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANOS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/anos1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:308700","Feature__r":{"HPO_Description__c":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004409","HPO_Synonym__c":"Decreased smell sensation; Sense of smell impaired","HPO_Name__c":"Hyposmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","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":"OMIM:308700","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":"OMIM:308700","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating level of luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030344","HPO_Synonym__c":"Decreased circulating luteinising hormone level","HPO_Name__c":"Decreased circulating luteinizing hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","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:308700","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":"OMIM:308700","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:308700","Feature__r":{"HPO_Description__c":"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 (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003164","HPO_Synonym__c":"Hypothalamic GNRH deficiency; Hypothalamic gonadotropin-releasing hormone deficiency","HPO_Name__c":"Gonadotropin-releasing hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","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":"OMIM:308700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001341","HPO_Synonym__c":"Olfactory lobe absence","HPO_Name__c":"Olfactory lobe agenesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","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:308700","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Apparently small scrotum for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000046","HPO_Synonym__c":"Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum","HPO_Name__c":"Small scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of the circulating level of follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030341","HPO_Synonym__c":"Decreased circulating follicle stimulating hormone level","HPO_Name__c":"Decreased circulating follicle stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","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":"OMIM:308700","Feature__r":{"HPO_Description__c":"A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003782","HPO_Name__c":"Eunuchoid habitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","HPO_Frequency__c":"Very frequent (80-99%)","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:308700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002929","HPO_Name__c":"Leydig cell insensitivity to gonadotropin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","Feature__r":{"HPO_Description__c":"Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001335","HPO_Synonym__c":"Hand mirror movements; Mirror hand movements; Mirror movements","HPO_Name__c":"Bimanual synkinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308700","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["anos1 hypogonadotropic hypogonadism"," hh1"," hypogonadotropic hypogonadism 1 with anosmia"," hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1)"," hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive"," hypogonadotropic hypogonadism and anosmia"," hypogonadotropic hypogonadism caused by mutation in anos1"," kallmann syndrome, type 1, x-linked"]}