{"Name":"Insulin-resistant diabetes mellitus AND acanthosis nigricans","DiseaseID__c":"GARD:0003008","id":3008,"encodedName":"insulin-resistant-diabetes-mellitus-and-acanthosis-nigricans","IsDeleted":false,"Disease_Name_Full__c":"Insulin-resistant diabetes mellitus AND acanthosis nigricans","Xref_IDs__c":"C0342278; C131836; C562710; MEDGEN:501111; MONDO:0012520; OMIM:610549; ORPHA:2297","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012520","Disease_Description__c":"Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.","GARD_Name__c":"Insulin-resistant diabetes mellitus AND acanthosis nigricans","GARD_Synonym__c":"diabetes mellitus, insulin-resistant, with acanthosis nigricans; diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a; hereditary benign acanthosis nigricans with insulin resistance; insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans; insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans; insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism; insulin-resistance syndrome type a; insulin-resistant acanthosis nigricans type a; iran, type a; type a insulin resistance; type a insulin resistance syndrome","Curated_Disease_Description_Source__c":"MONDO:0012520","Curated_Disease_Description__c":"Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.  Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.  The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood glucose (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.  Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2297","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012520","ORPHANET_ID__c":"ORPHA:2297","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de resistencia a la insulina tipo a","Spanish_Description_Source__c":"ORPHA:2297","Spanish_Description__c":"El síndrome de resistencia a la insulina tipo A pertenece al grupo de síndromes de resistencia extrema a la insulina (que incluye también el leprechaunismo, las lipodistrofias, el síndrome de Rabson-Mendenhall y el síndrome de resistencia a la insulina tipo B; ver términos). Se caracteriza por la triada de hiperinsulinemia, acantosis nigricans (lesión cutánea asociada con resistencia a la insulina) y signos de hiperandrogenismo en mujeres sin lipodistrofia y que no tienen sobrepeso.","Spanish_Disease_Name__c":"síndrome de resistencia a la insulina tipo a","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":"Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.  Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.  The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood glucose (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.  Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.","Curated_Disease_Description_Source__c":"MONDO:0012520","GARD_Synonym__c":"diabetes mellitus, insulin-resistant, with acanthosis nigricans; diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a; hereditary benign acanthosis nigricans with insulin resistance; insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans; insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans; insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism; insulin-resistance syndrome type a; insulin-resistant acanthosis nigricans type a; iran, type a; type a insulin resistance; type a insulin resistance syndrome","Name":"Insulin-resistant diabetes mellitus AND acanthosis nigricans","estimateUsa":""}],"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":"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":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2297"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2297"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2297"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003008","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2297","Source__c":"C0342278; MONDO:0012520","Xref__c":"ORPHA:2297"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131836","Source__c":"MONDO:0012520","Xref__c":"C131836"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342278","Source__c":"C0342278","Xref__c":"C0342278"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562710","Source__c":"MONDO:0012520","Xref__c":"C562710"},{"URL__c":"https://www.omim.org/entry/610549","Source__c":"C0342278; MONDO:0012520; ORPHA:2297","Xref__c":"OMIM:610549"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501111","Source__c":"C0342278","Xref__c":"MEDGEN:501111"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012520","Source__c":"GARD:0003008","Xref__c":"MONDO:0012520"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237606005","Source__c":"C0342278","Xref__c":"237606005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"INSR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/insr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2297","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:2297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2297","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:2297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2297","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Pediatrics"],"Account":["Infertility"]},"synonyms":["diabetes mellitus, insulin-resistant, with acanthosis nigricans"," diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a"," hereditary benign acanthosis nigricans with insulin resistance"," insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans"," insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans"," insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism"," insulin-resistance syndrome type a"," insulin-resistant acanthosis nigricans type a"," iran, type a"," type a insulin resistance"," type a insulin resistance syndrome"]}