{"orpha":769,"name":"Rabson-Mendenhall syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of <i>INSR</i>-related severe insulin-resistance syndrome characterized by intrauterine and postnatal growth delay, short stature, acanthosis nigricans, dental, hair and nail abnormalities, facial dysmorphism, organomegaly and major hyperinsulinemia with dysglycemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-769/","orphanet_url":"https://www.orpha.net/en/disease/detail/769","names":{"fr":{"name":"Syndrome de Rabson-Mendenhall","definition":"Sous-type du syndrome d'insulinorésistance sévère lié à l'<i>INSR</i> caractérisé par un retard de croissance intra-utérin et postnatal, une petite taille, un acanthosis nigricans, des anomalies dentaires, capillaires et unguéales, une dysmorphie faciale, une organomégalie et une hyperinsulinémie majeure avec dysglycémie."},"de":{"name":"Rabson-Mendenhall-Syndrom","definition":"Ein Subtyp des <I>INSR</I>-assoziierten schweren Insulinresistenzsyndroms, das durch intrauterine und postnatale Wachstumsverzögerung, Kleinwuchs, Acanthosis nigricans, Zahn-, Haar- und Nagelanomalien, Gesichtsdysmorphie, Organomegalie und schwere Hyperinsulinämie mit Dysglykämie gekennzeichnet ist."},"es":{"name":"Síndrome de Rabson-Mendenhall","definition":"Es un subtipo del síndrome de resistencia grave a la insulina asociado al gen <i>INSR</i> que se caracteriza por retraso del crecimiento intrauterino y posnatal, talla baja, acantosis nigricans, anomalías dentales, capilares y ungueales, dismorfia facial, organomegalia e hiperinsulinemia importante con alteraciones del control glucémico."},"it":{"name":"Sindrome di Rabson-Mendenhall"},"nl":{"name":"Syndroom van Rabson-Mendenhall","definition":"Een subtype van <i>INSR</i>-gerelateerd ernstig insulineresistentiesyndroom, gekenmerkt door intra-uteriene en postnatale groeiachterstand, kleine gestalte, acanthosis nigricans, afwijkingen van gebit, haar en nagels, faciale dysmorfie, organomegalie, en ernstige hyperinsulinemie met dysglycemie."},"pt":{"name":"Síndrome Rabson-Mendenhall"},"pl":{"name":"Zespół Rabsona i Mendenhalla"},"cs":{"name":"Rabsonův-Mendenhallův syndrom","synonyms":["Rabson-Mendenhallův syndrom"]},"uk":{"name":"Синдром Рабсона-Менденхолла","definition":"A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes)."},"zh":{"name":"Rabson-Mendenhall综合征"},"tr":{"name":"Rabson-Mendenhall sendromu"}},"xrefs":[{"source":"OMIM","code":"262190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1018973126"},{"source":"MONDO","code":"0009874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"226","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088742","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"INSR","name":"insulin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21869538[PMID]_17201797[PMID]","hgnc":"6091","ensembl":"ENSG00000171105","omim":"147670","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-30","source":"29369573[PMID]_29082893[PMID]_25484423[PMID]_28663160[PMID]","terms":[{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100879","label":"Enlarged ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030796","label":"Increased C-peptide level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031452","label":"Lichenoid skin lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012542","label":"Onychauxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001953","label":"Diabetic ketoacidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040270","label":"Impaired glucose tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012686","label":"Increased pineal volume","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}