{"Name":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","DiseaseID__c":"GARD:0019060","id":19060,"encodedName":"x-linked-intellectual-disability-acromegaly-hyperactivity-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","Xref_IDs__c":"C4304407; MEDGEN:930076; MONDO:0019424; ORPHA:85327","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Description_Source__c":"MONDO:0019424","Disease_Description__c":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.","GARD_Name__c":"X-linked intellectual disability-acromegaly-hyperactivity syndrome","GARD_Synonym__c":"x-linked intellectual disability with acromegaly and hyperactivity syndrome","Curated_Disease_Description_Source__c":"ORPHA:85327","Curated_Disease_Description__c":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism have also been described. One case displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies including subarachnoid cysts and hyperdensity in the pontine region have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85327","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019424","ORPHANET_ID__c":"ORPHA:85327","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-acromegalia-hiperactividad ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85327","Spanish_Description__c":"Es un síndrome caracterizado por déficit intelectual grave, acromegalia e hiperactividad. El síndrome se ha notificado en dos medios hermanos. También se ha descrito la asociación a disartria, conducta agresiva, facies característica (cara acromegálica y triangular con nariz alargada) y macroorquidia. La madre presentaba un déficit intelectual moderado y anomalías faciales más leves. Ambos niños presentaban anomalías del sistema nervioso central: quistes subaracnoideos e hiperdensidad en la región pontina.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-acromegalia-hiperactividad ligado al cromosoma x","Spanish_GARD_Synonym__c":null,"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":"X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism have also been described. One case displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies including subarachnoid cysts and hyperdensity in the pontine region have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:85327","GARD_Synonym__c":"x-linked intellectual disability with acromegaly and hyperactivity syndrome","Name":"X-linked intellectual disability-acromegaly-hyperactivity 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":"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":"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85327"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930076","Source__c":"C4304407","Xref__c":"MEDGEN:930076"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304407","Source__c":"C4304407","Xref__c":"C4304407"},{"URL__c":"https://www.orpha.net/en/disease/detail/85327","Source__c":"C4304407; MONDO:0019424; ORPHA:85327","Xref__c":"ORPHA:85327"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019424","Source__c":"GARD:0019060","Xref__c":"MONDO:0019424"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719826004","Source__c":"C4304407","Xref__c":"719826004"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the pons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007361","HPO_Synonym__c":"Abnormality of the pons","HPO_Name__c":"Abnormal pons morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000845","HPO_Synonym__c":"Elevated circulating somatotropin concentration; Growth hormone excess; Somatotropin excess","HPO_Name__c":"Elevated circulating growth hormone concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003189","HPO_Synonym__c":"Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation","HPO_Name__c":"Long nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of a folate sensitive fragile site at chromosome Xq28.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003564","HPO_Name__c":"Folate-dependent fragile site at Xq28","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030353","HPO_Name__c":"Decreased circulating serum insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009745","HPO_Synonym__c":"Epidural arachnoid cysts of the spinal canal","HPO_Name__c":"Spinal arachnoid cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["x-linked intellectual disability with acromegaly and hyperactivity syndrome"]}