{"Name":"Ataxia-hypogonadism-choroidal dystrophy syndrome","DiseaseID__c":"GARD:0000944","id":944,"encodedName":"ataxia-hypogonadism-choroidal-dystrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ataxia-hypogonadism-choroidal dystrophy syndrome","Xref_IDs__c":"715984007; C1859093; C565850; DOID:0111265; MEDGEN:347798; MONDO:0008980; OMIM:215470; ORPHA:1180","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008980","Disease_Description__c":"A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).","GARD_Name__c":"Ataxia-hypogonadism-choroidal dystrophy syndrome","GARD_Synonym__c":"bnhs; boucher neuhäuser syndrome; boucher-neuhauser syndrome; boucher-neuhchäuser syndrome; boucher-neuhäuser syndrome; cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome; chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism; spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0008980","Curated_Disease_Description__c":"Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in coordinating movements (the cerebellum). Affected individuals have an unsteady walking style (gait) and frequent falls. Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Other hormone abnormalities lead to short stature in some affected individuals. The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to problems with the light-sensitive tissue that lines the back of the eye (the retina) and a nearby tissue layer called the choroid. These eye abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus). The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to adulthood, although at least one feature usually occurs by adolescence. Ataxia is often the initial symptom of the disorder, but vision problems or delayed puberty can be the earliest finding. Vision and movement problems worsen slowly throughout life and can result in blindness or the need for a wheelchair for mobility in the most severely affected individuals. People with Boucher-Neuhäuser syndrome can have additional medical problems, including muscle stiffness (spasticity); impaired speech (dysarthria); and difficulty processing, learning, or remembering information (cognitive impairment).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1180","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008980","ORPHANET_ID__c":"ORPHA:1180","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia-hipogonadismo-distrofia coroidea","Spanish_Description_Source__c":"ORPHA:1180","Spanish_Description__c":"Es un trastorno autosómico recesivo muy poco frecuente. Se trata de un síndrome neurodegenerativo de progresión lenta caracterizado por la tríada de ataxia cerebelosa (que generalmente se manifiesta en la adolescencia o en la edad adulta temprana), distrofia coriorretiniana, que puede tener una aparición más tardía (hasta la quinta o sexta década) llevando a grados variables de afectación visual e hipogonadismo hipogonadotrópico (retraso puberal y ausencia de caracteres sexuales secundarios). El síndrome de ataxia-hipogonadismo-distrofia coroidea pertenece a un continuo clínico de trastornos neurodegenerativos junto con el síndrome de ataxia cerebelosa-hipogonadismo.","Spanish_Disease_Name__c":"síndrome de ataxia-hipogonadismo-distrofia coroidea","Spanish_GARD_Synonym__c":"síndrome de boucher-neuhäuser","Category_Linearization__c":"ORPHA:93890","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":"Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in coordinating movements (the cerebellum). Affected individuals have an unsteady walking style (gait) and frequent falls. Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Other hormone abnormalities lead to short stature in some affected individuals. The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to problems with the light-sensitive tissue that lines the back of the eye (the retina) and a nearby tissue layer called the choroid. These eye abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus). The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to adulthood, although at least one feature usually occurs by adolescence. Ataxia is often the initial symptom of the disorder, but vision problems or delayed puberty can be the earliest finding. Vision and movement problems worsen slowly throughout life and can result in blindness or the need for a wheelchair for mobility in the most severely affected individuals. People with Boucher-Neuhäuser syndrome can have additional medical problems, including muscle stiffness (spasticity); impaired speech (dysarthria); and difficulty processing, learning, or remembering information (cognitive impairment).","Curated_Disease_Description_Source__c":"MONDO:0008980","GARD_Synonym__c":"bnhs; boucher neuhäuser syndrome; boucher-neuhauser syndrome; boucher-neuhchäuser syndrome; boucher-neuhäuser syndrome; cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome; chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism; spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy","Name":"Ataxia-hypogonadism-choroidal dystrophy syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"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":"Childhood","Provided_By__c":"ORPHA:1180"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000944","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK247161","Source__c":"Gene Review","Xref__c":"NBK247161"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859093","Source__c":"C1859093","Xref__c":"C1859093"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347798","Source__c":"C1859093","Xref__c":"MEDGEN:347798"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111265","Source__c":"MONDO:0008980","Xref__c":"DOID:0111265"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715984007","Source__c":"C1859093; MONDO:0008980","Xref__c":"715984007"},{"URL__c":"https://www.omim.org/entry/215470","Source__c":"C1859093; MONDO:0008980; ORPHA:1180","Xref__c":"OMIM:215470"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565850","Source__c":"MONDO:0008980","Xref__c":"C565850"},{"URL__c":"https://www.orpha.net/en/disease/detail/1180","Source__c":"C1859093; MONDO:0008980; ORPHA:1180","Xref__c":"ORPHA:1180"},{"URL__c":"https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome","Source__c":"GARD:0000944","Xref__c":"https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008980","Source__c":"GARD:0000944","Xref__c":"MONDO:0008980"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PNPLA6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pnpla6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1180","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:1180","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:1180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001135","HPO_Name__c":"Chorioretinal dystrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Neurology","Ophthalmology","Endocrine","Obstetrics / Gynecology","Urologist","Retinal","Pediatrics"],"Account":["Retinal","Infertility","Ataxia","Pituitary deficiency"]},"synonyms":["bnhs"," boucher neuhäuser syndrome"," boucher-neuhauser syndrome"," boucher-neuhchäuser syndrome"," boucher-neuhäuser syndrome"," cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome"," chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism"," spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy"]}