{"Name":"Deafness-hypogonadism syndrome","DiseaseID__c":"GARD:0001691","id":1691,"encodedName":"deafness-hypogonadism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-hypogonadism syndrome","Xref_IDs__c":"C1844680; C564435; MEDGEN:335003; MONDO:0010575; OMIM:304350; ORPHA:90646","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010575","Disease_Description__c":"A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.","GARD_Name__c":"Deafness-hypogonadism syndrome","GARD_Synonym__c":"deafness and hypogonadism syndrome; dhs; hearing loss-hypogonadism syndrome","Curated_Disease_Description_Source__c":"MONDO:0010575","Curated_Disease_Description__c":"A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:90646","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010575","ORPHANET_ID__c":"ORPHA:90646","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-hipogonadismo","Spanish_Description_Source__c":"ORPHA:90646","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de una pérdida auditiva mixta congénita con gusher perilinfático (síndrome de Gusher o DFN3), hipogonadismo y comportamiento anómalo.","Spanish_Disease_Name__c":"síndrome de sordera-hipogonadismo","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-hipogonadismo","Category_Linearization__c":"ORPHA:98036","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 form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.","Curated_Disease_Description_Source__c":"MONDO:0010575","GARD_Synonym__c":"deafness and hypogonadism syndrome; dhs; hearing loss-hypogonadism syndrome","Name":"Deafness-hypogonadism 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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90646"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:90646"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335003","Source__c":"C1844680","Xref__c":"MEDGEN:335003"},{"URL__c":"https://www.omim.org/entry/304350","Source__c":"C1844680; MONDO:0010575; ORPHA:90646","Xref__c":"OMIM:304350"},{"URL__c":"https://www.orpha.net/en/disease/detail/90646","Source__c":"C1844680; MONDO:0010575; ORPHA:90646","Xref__c":"ORPHA:90646"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564435","Source__c":"MONDO:0010575","Xref__c":"C564435"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844680","Source__c":"C1844680","Xref__c":"C1844680"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718714006","Source__c":"C1844680","Xref__c":"718714006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010575","Source__c":"GARD:0001691","Xref__c":"MONDO:0010575"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007642","HPO_Synonym__c":"Congenital night blindness; Congenital stationary night blindness; Night blindness since birth","HPO_Name__c":"Early-onset non-progressive night blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000381","HPO_Synonym__c":"Stapes fixation","HPO_Name__c":"Stapes ankylosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011384","HPO_Synonym__c":"Abnormality of the internal acoustic meatus","HPO_Name__c":"Abnormality of the internal auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011388","HPO_Synonym__c":"Dilated cochlear aqueduct","HPO_Name__c":"Enlarged cochlear aqueduct","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","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:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100503","HPO_Synonym__c":"Low levels of vitamin B1; Reduced blood thiamine level; Vitamin B1 deficiency","HPO_Name__c":"Decreased circulating vitamin B1 concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90646","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:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of conductive hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012717","HPO_Synonym__c":"Conductive hearing loss, severe","HPO_Name__c":"Severe conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","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:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004452","HPO_Synonym__c":"Malformed ossicles; Ossicular malformation","HPO_Name__c":"Abnormality of the middle ear ossicles","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Otolaryngology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["deafness and hypogonadism syndrome"," dhs"," hearing loss-hypogonadism syndrome"]}