Rabson-Mendenhall syndrome

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).



Input patient's signs and symptoms


Narrow down the case reports



Total: 34 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
8
(4.0%)		 8270132
 An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
Muller-Wieland D, van der Vorm ER, Streicher R, Krone W, Seemanova E, Dreyer M, Rudiger HW, Rosipal SR, Maassen JA.
Diabetologia. 1993;36(11):1168-74.
Insulin resistance
INSR
Amino Acid Sequence Base Sequence Child Cultured Cells DNA Primers DNA Transposable Elements Exons Females Fibroblasts Homo sapiens Insulin Insulin Receptor Insulin Resistance Insulin-Like-Growth Factor I Receptor Kinetics Male Molecular Sequence Data Mutation Phosphorylation Point Mutation Polymerase Chain Reaction Skin Syndrome
8
(4.0%)		 8077364
 Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I.
Longo N, Singh R, Griffin LD, Langley SD, Parks JS, Elsas LJ.
J Clin Endocrinol Metab. 1994;79(3):799-805.
Insulin resistance
ATL2 IGF1 IGF1R IGFBP3 INSR
Acanthosis Nigricans Blood Glucose Dentition Fibroblasts Growth Disorders Growth Hormone Homo sapiens Infant, Newborn Infant, Small for Gestational Age Insulin Insulin Resistance Insulin-Like Growth Factor I Male Recombinant Proteins Syndrome
8
(4.0%)		 3020345
 A primary defect in insulin receptor in a young male patient with insulin resistance.
Takata Y, Kobayashi M, Maegawa H, Watanabe N, Ishibashi O, Shigeta Y, Fujinami A.
Metabolism. 1986;35(10):950-5.
Insulin resistance
INS INSR
Child Dose-Response Relationship, Drug Erythrocytes Fibroblasts Homo sapiens Hydrogen-Ion Concentration Insulin Insulin Receptor Insulin Resistance Kinetics Lymphocyte Activation Male
8
(4.0%)		 2365819
 Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
Kadowaki T, Kadowaki H, Rechler MM, Serrano-Rios M, Roth J, Gorden P, Taylor SI.
J Clin Invest. 1990;86(1):254-64.
Insulin resistance
INSR
p|SUB|H|209|R p|SUB|N|15|K p|SUB|N|462|S rs121913143 rs121913145 rs121913146 rs121913147
Adult Alleles Amino Acid Sequence Base Sequence Gene Expression Genetic Polymorphism Homo sapiens Insulin Receptor Insulin Resistance Molecular Sequence Data Mutation Oligonucleotide Probes Oligonucleotides Polymerase Chain Reaction RNA, Messenger
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000040 Long penis Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000819 Diabetes mellitus Very frequent (99-80%)
HP:0000845 Growth hormone excess Very frequent (99-80%)
HP:0000956 Acanthosis nigricans Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001805 Onychogryposis Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0004298 Abnormality of the abdominal wall Very frequent (99-80%)
HP:0006288 Advanced eruption of teeth Very frequent (99-80%)
HP:0010458 Female pseudohermaphroditism Very frequent (99-80%)
HP:0000093 Proteinuria Frequent (79-30%)
HP:0000820 Abnormality of the thyroid gland Frequent (79-30%)
HP:0000826 Precocious puberty Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0001072 Thickened skin Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0002208 Coarse hair Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0007495 Prematurely aged appearance Frequent (79-30%)
HP:0009830 Peripheral neuropathy Frequent (79-30%)
HP:0000147 Polycystic ovaries Occasional (29-5%)
HP:0010935 Abnormality of the upper urinary tract Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 11

HPO ID Term # of case reports
HP:0000855 Insulin resistance 16
HP:0000842 Hyperinsulinemia 5
HP:0001007 Hirsutism 2
HP:0000121 Nephrocalcinosis 1
HP:0000819 Diabetes mellitus 1
HP:0000956 Acanthosis nigricans 1
HP:0001943 Hypoglycemia 1
HP:0002150 Hypercalciuria 1
HP:0003074 Hyperglycemia 1
HP:0010609 Skin tags 1
HP:0011998 Postprandial hyperglycemia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
INSR insulin receptor 3643