{"Name":"Gigantism","DiseaseID__c":"GARD:0006506","id":6506,"encodedName":"gigantism","IsDeleted":false,"Disease_Name_Full__c":"Gigantism","Xref_IDs__c":"80849007; 86073008; C0017547; C93046; D005877; MEDGEN:6602; MONDO:0020479; ORPHA:99725","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0020479","Disease_Description__c":"The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.","GARD_Name__c":"Gigantism","GARD_Synonym__c":"genetic giant; giant; giantism; hypophyseal gigantism; infantile and juvenile forms of acromegaly; normal giant; pituitary gigantism; primordial giant","Curated_Disease_Description_Source__c":"GARD:0006506","Curated_Disease_Description__c":"X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers. This rapid growth is caused by an abnormality of the pituitary gland. The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions, including growth. Individuals with X-LAG may have the condition as a result of enlargement (hyperplasia) of the gland or development of a noncancerous tumor in the gland (called a pituitary neuroendocrine tumor or PitNET). Rarely, an affected individual has both pituitary hyperplasia and a pituitary neuroendocrine tumor. The abnormal gland releases excess amounts of growth hormone, a hormone that normally helps direct growth of the bodys bones and tissues. The abnormal gland can also release excess amounts of another hormone called prolactin, which helps control the function of the internal reproductive organs (gonads).  Some people with X-LAG have additional signs and symptoms such as facial features that are described as coarse; disproportionately large hands or feet (acral enlargement); an increased appetite; and a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety.","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:99725","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020479","ORPHANET_ID__c":"ORPHA:99725","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Gigantismo hipofisario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"gigantismo hipofisario","Spanish_GARD_Synonym__c":"acromegalia de formas infantil y juvenil; gigantismo pituitario","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":"X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers. This rapid growth is caused by an abnormality of the pituitary gland. The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions, including growth. Individuals with X-LAG may have the condition as a result of enlargement (hyperplasia) of the gland or development of a noncancerous tumor in the gland (called a pituitary neuroendocrine tumor or PitNET). Rarely, an affected individual has both pituitary hyperplasia and a pituitary neuroendocrine tumor. The abnormal gland releases excess amounts of growth hormone, a hormone that normally helps direct growth of the bodys bones and tissues. The abnormal gland can also release excess amounts of another hormone called prolactin, which helps control the function of the internal reproductive organs (gonads).  Some people with X-LAG have additional signs and symptoms such as facial features that are described as coarse; disproportionately large hands or feet (acral enlargement); an increased appetite; and a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety.","Curated_Disease_Description_Source__c":"GARD:0006506","GARD_Synonym__c":"genetic giant; giant; giantism; hypophyseal gigantism; infantile and juvenile forms of acromegaly; normal giant; pituitary gigantism; primordial giant","Name":"Gigantism","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99725"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99725"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99725"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006506","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK97965","Source__c":"Gene Review","Xref__c":"NBK97965"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86073008","Source__c":"MONDO:0020479","Xref__c":"86073008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017547","Source__c":"C0017547","Xref__c":"C0017547"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005877","Source__c":"C0017547; MONDO:0020479","Xref__c":"D005877"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C93046","Source__c":"C0017547; MONDO:0020479","Xref__c":"C93046"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6602","Source__c":"C0017547","Xref__c":"MEDGEN:6602"},{"URL__c":"https://www.orpha.net/en/disease/detail/99725","Source__c":"C0017547; MONDO:0020479; ORPHA:99725","Xref__c":"ORPHA:99725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=80849007","Source__c":"C0017547","Xref__c":"80849007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020479","Source__c":"GARD:0006506","Xref__c":"MONDO:0020479"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AIP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aip","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MEN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/men1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006767","HPO_Synonym__c":"Pituitary prolactinoma; Prolactin-secreting pituitary adenoma; Prolactinoma","HPO_Name__c":"Pituitary prolactin cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030269","HPO_Synonym__c":"Elevated serum IGF1; Increased serum IGF1; Increased serum insulin-like growth factor 1","HPO_Name__c":"Increased circulating insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","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:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011407","HPO_Name__c":"Proportionate tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100829","HPO_Synonym__c":"Galactorrhoea; Spontaneous milk flow from breast","HPO_Name__c":"Galactorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","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:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased back to front length of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001833","HPO_Synonym__c":"Disproportionately large feet; large feet; long feet; Long foot","HPO_Name__c":"Long foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated 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:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Frequent (30-79%)","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:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of pituitary adenoma that produces growth hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011760","HPO_Synonym__c":"Pituitary somatotropinoma","HPO_Name__c":"Pituitary growth hormone cell adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","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:99725","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000141","HPO_Synonym__c":"Abnormal absence of menstruation","HPO_Name__c":"Amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","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:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The onset of growth of pubic hair at an earlier age than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012411","HPO_Synonym__c":"Premature pubic hair growth","HPO_Name__c":"Premature pubarche","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99725","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine"],"Cause":["Genetics"],"Account":["Pituitary deficiency"]},"synonyms":["genetic giant"," giant"," giantism"," hypophyseal gigantism"," infantile and juvenile forms of acromegaly"," normal giant"," pituitary gigantism"," primordial giant"],"spanishId":13216,"spanishName":"gigantismo"}