{"Name":"Nelson syndrome","DiseaseID__c":"GARD:0007170","id":7170,"encodedName":"nelson-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nelson syndrome","Xref_IDs__c":"43019009; C1852159; C531754; C84917; D009347; DOID:4968; E24.1; MEDGEN:342174; MONDO:0016035; OMIM:125550; ORPHA:199244","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016035","Disease_Description__c":"A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.","GARD_Name__c":"Nelson syndrome","GARD_Synonym__c":"dermal ridges-off-the-end; nelson's syndrome; ridges-off-the-end syndrome; roes","Curated_Disease_Description_Source__c":"MONDO:0016035","Curated_Disease_Description__c":"A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:199244","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016035","ORPHANET_ID__c":"ORPHA:199244","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de nelson","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de nelson","Spanish_GARD_Synonym__c":null,"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":"A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.","Curated_Disease_Description_Source__c":"MONDO:0016035","GARD_Synonym__c":"dermal ridges-off-the-end; nelson's syndrome; ridges-off-the-end syndrome; roes","Name":"Nelson syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pituitary Foundation","Website__c":"https://www.pituitary.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:199244"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:199244"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852159","Source__c":"C1852159","Xref__c":"C1852159"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4968","Source__c":"MONDO:0016035","Xref__c":"DOID:4968"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009347","Source__c":"MONDO:0016035","Xref__c":"D009347"},{"URL__c":"https://www.orpha.net/en/disease/detail/199244","Source__c":"C1852159; MONDO:0016035","Xref__c":"ORPHA:199244"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=43019009","Source__c":"MONDO:0016035","Xref__c":"43019009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342174","Source__c":"C1852159","Xref__c":"MEDGEN:342174"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84917","Source__c":"MONDO:0016035","Xref__c":"C84917"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531754","Source__c":"MONDO:0016035","Xref__c":"C531754"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016035","Source__c":"GARD:0007170","Xref__c":"MONDO:0016035"},{"URL__c":"https://www.omim.org/entry/125550","Source__c":"C1852159","Xref__c":"OMIM:125550"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E24.1","Source__c":"MONDO:0016035","Xref__c":"E24.1"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased concentration of cortisol in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012030","HPO_Synonym__c":"High urine cortisol level","HPO_Name__c":"Increased urinary cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the quadriceps muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009050","HPO_Synonym__c":"Wasting of quad muscles","HPO_Name__c":"Quadriceps muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011749","HPO_Synonym__c":"ACTH excess","HPO_Name__c":"Adrenocorticotropic hormone excess","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007807","HPO_Name__c":"Optic nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008291","HPO_Synonym__c":"ACTH-producing pituitary adenoma; Corticotropin-secreting pituitary adenoma","HPO_Name__c":"Pituitary corticotropic cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011744","HPO_Name__c":"Secondary hypercortisolism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001065","HPO_Synonym__c":"Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae","HPO_Name__c":"Striae distensae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011763","HPO_Name__c":"Pituitary carcinoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012246","HPO_Name__c":"Oculomotor nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030591","HPO_Name__c":"Abnormal kinetic perimetry test","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030521","HPO_Name__c":"Bitemporal hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000870","HPO_Synonym__c":"Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess","HPO_Name__c":"Increased circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199244","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430022","HPO_Synonym__c":"Abnormality of the sphenoidal sinus","HPO_Name__c":"Abnormality of the sphenoid sinus","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"],"Account":["Pituitary deficiency"]},"synonyms":["dermal ridges-off-the-end"," nelson's syndrome"," ridges-off-the-end syndrome"," roes"]}