Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities (RMS)

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OMIM® 57 262190 KEGG 36 H00942 MESH via Orphanet 45 D056731 ICD10 via Orphanet 33 E13 UMLS via Orphanet 71 C0271695

Orphanet 58 ORPHA769 MedGen 41 C0271695 SNOMED-CT via HPO 68 109504005 12351004 123527003 123983008 16000003 16386004 166690008 17173007 199612005 22033007 224958001 22810007 228156007 237598005 237836003 247578003 248316006 249321001 25273001 253366007 253549006 258211005 267026004 267258002 271607001 27272007 275480001 276610007 29555009 29966009 302226006 30288003 30654002 367506006 386033004 387833009 399939002 400179000 402599005 405752007 40930008 420422005 42658009 43339004 441787004 441798003 48638002 52368004 54711002 57809008 66998000 69056000 6974005 699222000 70142008 708670007 72129000 80212005 80394007 83469008 85898001 88673001 91138005 more UMLS 70 C0271695

MedlinePlus Genetics : ⁴³ Rabson-Mendenhall 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 Rabson-Mendenhall syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high.Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the development of many parts of the body. Affected individuals are unusually small starting before birth, and infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features of the condition that become apparent early in life include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall syndrome include prominent, widely spaced eyes; a broad nose; and large, low-set ears.Rabson-Mendenhall syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually fatal before age 2) and type A insulin resistance syndrome (which is often not diagnosed until adolescence). People with Rabson-Mendenhall syndrome develop signs and symptoms early in life and live into their teens or twenties. Death usually results from complications related to diabetes mellitus, such as a toxic buildup of acids called ketones in the body (diabetic ketoacidosis).

MalaCards based summary : Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities, also known as rabson-mendenhall syndrome, is related to rhabdomyosarcoma and donohue syndrome, and has symptoms including dry skin An important gene associated with Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities is INSR (Insulin Receptor), and among its related pathways/superpathways are Adherens junction and Insulin signaling pathway. Affiliated tissues include pineal, pancreas and tongue, and related phenotypes are intellectual disability and global developmental delay

GARD : ²⁰ Rabson-Mendenhall syndrome (RMS) is a mild form of INSR -related severe syndromic insulin resistance, an inherited disorder associated with the inability to regulate blood sugar. Insulin is a hormone produced by the pancreas that normally regulates blood sugar levels by promoting the movement of sugar (glucose) into cells for energy production or into the liver and fat cells for storage. Symptoms of RMS include poor growth before and after birth, hairiness, muscle wasting (hypertrophy), coarse facial features, abnormalities of the teeth and nails and a skin abnormality known as acanthosis nigricans. In addition, people with RMS have excess blood insulin levels and irregular sugar (glucose) levels. Some people with RMS have developmental and intellectual disabilities. Over time, people with RMS can have organ damage due to unregulated blood sugar. This disorder is diagnosed based on the signs and symptoms, laboratory testing, and genetic testing of the INSR gene. RMS is caused by a mutation in the INSR gene and is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor. The long-term outlook for people with RMS is variable. Unregulated sugar levels over a long period of time can lead to a shortened lifespan. Donohue syndrome (leprechaunism) is a more severe form of INSR -related syndromic insulin resistance. Symptoms are similar to those seen in RMS, but are more serious. Most children with Donohue syndrome die before one year of age. Type A insulin resistance syndrome (type A) is a milder form of INSR -related syndromic insulin resistance. People with type A are often not diagnosed until their teens.

KEGG : ³⁶ Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.

UniProtKB/Swiss-Prot : ⁷² Rabson-Mendenhall syndrome: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive.

Wikipedia : ⁷³ Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin... more...

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262190 (Updated 05-Apr-2021)

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