RMS
MCID: PNL019
MIFTS: 56
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Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities (RMS)
Categories:
Endocrine diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and...
MalaCards integrated aliases for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:
Characteristics:Inheritance:
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:
Autosomal recessive 57
Rabson-Mendenhall Syndrome:
Autosomal recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset of acanthosis nigricans correlates with onset of diabetes survival to 5-15 years of age allelic to leprechaunism and insulin-resistant diabetes mellitus with acanthosis nigricans Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Endocrine diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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 donohue syndrome and rhabdomyosarcoma, 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 p70S6K Signaling and PI3K-Akt signaling pathway. Affiliated tissues include pineal, skin and pancreas, and related phenotypes are intellectual disability and global developmental delay GARD: 19 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 genetic change in the INSR gene and is inherited in an autosomal recessive manner. 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. Type A insulin resistance syndrome (type A) is a milder form of INSR-related syndromic insulin resistance. UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 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). Wikipedia: 75 Rabson-Mendenhall syndrome is a rare autosomal recessive disorder characterized by severe insulin... more...
More information from OMIM:
262190
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Human phenotypes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:58 30 (show top 50) (show all 59)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:262190 (Updated 08-Dec-2022)UMLS symptoms related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:dry skin MGI Mouse Phenotypes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:45
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Organs/tissues related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:
MalaCards :
Pineal,
Skin,
Pancreas,
Liver,
Heart,
Tongue,
Pancreatic Islet
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Articles related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:(show top 50) (show all 352)
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ClinVar genetic disease variations for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:5 (show top 50) (show all 254)
UniProtKB/Swiss-Prot genetic disease variations for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities:73 (show all 14)
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Search
GEO
for disease gene expression data for Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities.
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Pathways related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:(show all 26)
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Cellular components related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:
Biological processes related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities according to GeneCards Suite gene sharing:
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