{"Name":"Diencephalic syndrome","DiseaseID__c":"GARD:0006276","id":6276,"encodedName":"diencephalic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Diencephalic syndrome","Xref_IDs__c":"237733001; C0342436; C116955; MEDGEN:90981; MONDO:0015663; ORPHA:1672","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0015663","Disease_Description__c":"Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.","GARD_Name__c":"Diencephalic syndrome","GARD_Synonym__c":"diencephalic cachexia; diencephalic syndrome of childhood; diencephalic syndrome of emaciation; diencephalic syndrome of infancy; russell diencephalic cachexia; russell syndrome","Curated_Disease_Description_Source__c":"GARD:0006276","Curated_Disease_Description__c":"Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. The diencephalon includes the hypothalamus and the thalamus. This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus. Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma. Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1672","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015663","ORPHANET_ID__c":"ORPHA:1672","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome diencefálico","Spanish_Description_Source__c":"ORPHA:1672","Spanish_Description__c":"El síndrome diencefálico (SD) es una condición poco frecuente caracterizada por emaciación profunda y falta de crecimiento (con una ingesta calórica normal y crecimiento lineal normal), estados de hiperalerta, hiperquinesia y euforia, en presencia de tumores hipotalámicos.","Spanish_Disease_Name__c":"síndrome diencefálico","Spanish_GARD_Synonym__c":"caquexia diencefálica; caquexia diencefálica de russell; síndrome de emaciación diencefálica; síndrome de russell; síndrome diencefálico de la infancia","Category_Linearization__c":"ORPHA:97978","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":"Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. The diencephalon includes the hypothalamus and the thalamus. This condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). Other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus. Diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma. Given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve.","Curated_Disease_Description_Source__c":"GARD:0006276","GARD_Synonym__c":"diencephalic cachexia; diencephalic syndrome of childhood; diencephalic syndrome of emaciation; diencephalic syndrome of infancy; russell diencephalic cachexia; russell syndrome","Name":"Diencephalic syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.org/"},{"Account_Name__c":"A Kids’ Brain Tumor Cure Foundation","Website__c":"https://akidsbraintumorcure.org/"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1672"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1672"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1672"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1672"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116955","Source__c":"MONDO:0015663","Xref__c":"C116955"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342436","Source__c":"C0342436","Xref__c":"C0342436"},{"URL__c":"https://www.orpha.net/en/disease/detail/1672","Source__c":"C0342436; MONDO:0015663; ORPHA:1672","Xref__c":"ORPHA:1672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90981","Source__c":"C0342436","Xref__c":"MEDGEN:90981"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237733001","Source__c":"C0342436; MONDO:0015663","Xref__c":"237733001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015663","Source__c":"GARD:0006276","Xref__c":"MONDO:0015663"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004375","HPO_Synonym__c":"Tumor of the nervous system","HPO_Name__c":"Neoplasm of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally low body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004325","HPO_Synonym__c":"Decreased body weight; Decreased weight; Low body weight; Low weight; Weight less than 3rd percentile","HPO_Name__c":"Decreased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000864","HPO_Name__c":"Abnormality of the hypothalamus-pituitary axis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Penile length more than 2 SD above the mean for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000040","HPO_Synonym__c":"Enlarged penis; Long penis","HPO_Name__c":"Long penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Very frequent (80-99%)","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:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1672","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Endocrine"],"Specialist":["Endocrine","Pediatrics"]},"synonyms":["diencephalic cachexia"," diencephalic syndrome of childhood"," diencephalic syndrome of emaciation"," diencephalic syndrome of infancy"," russell diencephalic cachexia"," russell syndrome"]}