MCID: RBS003
MIFTS: 49

Rabson-Mendenhall Syndrome malady

Skin, Endocrine categories

Summaries for Rabson-Mendenhall Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Rabson-mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. symptoms of rabson-mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. additional symptoms may also be present. rabson-mendenhall syndrome is inherited in an autosomal recessive manner. treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor. last updated: 11/9/2010

MalaCards: Rabson-Mendenhall Syndrome, also known as pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, is related to insulin resistance and char syndrome, and has symptoms including coarse face, prognathism/prognathia and anomalies of teeth and dentition. An important gene associated with Rabson-Mendenhall Syndrome is INSR (insulin receptor), and among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and Development Prolactin receptor signaling. The compounds estradiol and tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related mouse phenotypes are reproductive system and adipose tissue.

Description from OMIM:47 262190

Aliases & Classifications for Rabson-Mendenhall Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 20GeneTests, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin, Endocrine


Characteristics (Orphanet epidemiological data):

49
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rabson-mendenhall syndrome 43 47 45 49 61
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 43 20
mendenhall syndrome 43


External Ids:

OMIM47 262190
MESH via Orphanet36 D056731
ICD10 via Orphanet26 E13
SNOMED-CT via Orphanet58 33559001
UMLS via Orphanet62 C0271695

Related Diseases for Rabson-Mendenhall Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Rabson-Mendenhall Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance30.9GH1, IGFBP3, IGF1R, IGF1, INS, INSR
2char syndrome10.5
3medullary sponge kidney10.5
4kid syndrome10.5
5n syndrome10.3
6skin tag10.3
7myotonic dystrophy10.0INSR
8dementia10.0INSR
9hyperinsulinemic hypoglycemia10.0INS
10rheumatoid arthritis10.0INSR
11thyrotoxicosis10.0INS
12pancreatitis10.0INS
13leiomyoma10.0INSR
14blindness10.0INS
15ischemia10.0INSR
16multiple myeloma10.0IGF1
17lactic acidosis10.0INS
18maturity-onset diabetes of the young10.0INS
19metabolic acidosis10.0IGF1
20retinoblastoma10.0INSR
21graves' disease10.0IGF1R
22sheehan syndrome10.0IGF1
23cervical cancer10.0IGFBP3
24cystic fibrosis10.0INS
25amyotrophic lateral sclerosis10.0IGF1
26rhabdomyosarcoma10.0IGF1R
27polycythemia vera10.0IGF1R
28neuropathy10.0INS
29glucagonoma10.0GH1
30endometrial carcinoma10.0IGF1R
31short bowel syndrome10.0GH1
32neonatal diabetes mellitus10.0INS
33sarcoma10.0IGF1R
34donohue syndrome10.0INSR, INS
35hypoadrenalism10.0GH1
36schizophrenia10.0INSR, INS
37alzheimer's disease10.0INS, INSR
38hypercholesterolemia10.0INSR, INS
39autonomic neuropathy10.0INS
40myopathy10.0INS, IGF1
41arthritis10.0LEP
42bulimia nervosa10.0LEP
43pheochromocytoma10.0INSR
44acquired generalized lipodystrophy10.0LEP
45werner syndrome10.0INSR, IGFBP3
46adenocarcinoma10.0IGF1R, INSR
47lung cancer10.0IGF1, IGF1R
48noonan syndrome10.0IGF1, IGFBP3
49craniopharyngioma10.0GH1, IGF1
50hyperprolactinemia10.0GH1, IGF1

Graphical network of the top 20 diseases related to Rabson-Mendenhall Syndrome:



Diseases related to rabson-mendenhall syndrome

Clinical Features for Rabson-Mendenhall Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

262190

Clinical synopsis from OMIM:

262190

Symptoms:

49 (show all 27)
  • coarse face
  • prognathism/prognathia
  • anomalies of teeth and dentition
  • premature eruption of teeth/natal teeth
  • anomalies of the abdominal wall
  • acanthosis nigricans
  • hirsutism/hypertrichosis/increased body hair
  • lanugo
  • dysplastic/thick/grooved fingernails
  • female pseudohermaphrodism/virilisation/clitoridomegaly
  • macropenis/megapenis/large penis
  • diabetes mellitus
  • autosomal dominant inheritance
  • acromegaly
  • intrauterine growth retardation
  • short hand/brachydactyly
  • dry/squaly skin/exfoliation
  • thick skin/pachydermia/orange skin
  • coarse/thick hair
  • proteinuria
  • thyroid anomalies
  • precocious puberty
  • peripheral neuropathy
  • short stature/dwarfism/nanism
  • premature ageing
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • abnormal/polycystic ovaries

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rabson-Mendenhall Syndrome

Drug clinical trials:

Search ClinicalTrials for Rabson-Mendenhall Syndrome

Search NIH Clinical Center for Rabson-Mendenhall Syndrome

Search CenterWatch for Rabson-Mendenhall Syndrome

Genetic Tests for Rabson-Mendenhall Syndrome

Sources:
20GeneTests
See all sources

Genetic tests related to Rabson-Mendenhall Syndrome:

id Genetic test Affiliating Genes
1 Pineal Hyperplasia, Insulin-resistant Diabetes Mellitus, And Somatic Abnormalities20 INSR

Anatomical Context for Rabson-Mendenhall Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

33
Kidney, Liver, Pancreas, Skin, Pineal

Animal Models for Rabson-Mendenhall Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Rabson-Mendenhall Syndrome

Sources:
51PubMed
See all sources

Articles related to Rabson-Mendenhall Syndrome:

(show all 29)
idTitleAuthorsYear
1
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. (23497647)
2013
2
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. (23347304)
2013
3
Rabson-Mendenhall syndrome. (23263437)
2012
4
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. (22876563)
2012
5
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. (22563226)
2012
6
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. (21869538)
2011
7
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. (20155514)
2010
8
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. (20711714)
2010
9
Long survival in Rabson-Mendenhall syndrome. (20627358)
2010
10
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. (18411068)
2008
11
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. (18405695)
2008
12
Rabson-Mendenhall syndrome. (18717867)
2008
13
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. (17849153)
2007
14
Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type). (17560154)
2007
15
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. (17201797)
2007
16
Rabson-Mendenhall syndrome. (15738613)
2005
17
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. (15232309)
2004
18
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. (15070911)
2004
19
What syndrome is this? Rabson-Mendenhall syndrome. (12047650)
2002
20
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. (11757582)
2001
21
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. (15016231)
2000
22
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. (10443650)
1999
23
Two aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome. (9449692)
1998
24
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. (9212040)
1997
25
Rabson-Mendenhall syndrome]. (7983791)
1994
26
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. (8077364)
1994
27
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. (8270132)
1993
28
Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane. (3721065)
1986
29
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. (6339538)
1983

Genetic Variations for Rabson-Mendenhall Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Rabson-Mendenhall Syndrome:

63
id Symbol AA change Variation SNP ID
1INSRp.Asn42LysVAR_004079
2INSRp.Ser350LeuVAR_015914
3INSRp.Pro997ThrVAR_015921
4INSRp.Ile1143ThrVAR_015926
5INSRp.Arg1158TrpVAR_015928
6INSRp.Arg1201TrpVAR_015930
7INSRp.Gly386SerVAR_031520

Expression for genes affiliated with Rabson-Mendenhall Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rabson-Mendenhall Syndrome

Search GEO for disease gene expression data for Rabson-Mendenhall Syndrome.

Pathways for genes affiliated with Rabson-Mendenhall Syndrome

Sources:
53R&D Systems, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 52QIAGEN, 4Cell Signaling Technology
See all sources

Pathways related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1INSR
2
Development Prolactin receptor signaling
Hide members
10.1INS
39.7INS, INSR
4
Transcription Transcription factor Tubby signaling pathways
Hide members
9.7INSR, INS
59.7INSR, INS
6
Hide members
9.7INSR, INS
79.7INSR, INS
8
Hide members
9.6INSR, IGF1R
99.6INSR, IGF1R
109.5INS, IGF1R
119.5IGF1, IGFBP3
129.5IGF1, IGF1R
13
G-protein signaling RhoA regulation pathway
Hide members
9.5IGF1, IGF1R
14
Hide members
9.5INSR, GH1
15
Hide members
9.2INS, LEP
169.2IGF1, INS, INSR
179.2INSR, INS, IGF1R
18
Hide members
9.2INSR, INS, IGF1R
19
Hide members
9.1IGF1R, IGF1, INSR
20
Hide members
9.1IGF1R, IGF1, INSR
21
Development Ligand-independent activation of ESR1 and ESR2
Hide members
9.1INSR, IGF1, IGF1R
22
Hide members
9.1IGF1R, IGF1, INS
23
Hide members
9.1IGF1R, IGF1, INS
24
Hide members
9.0IGFBP3, IGF1R, IGF1
258.9IGF1, IGF1R, GH1
26
Hide members
8.9IGF1, IGF1R, GH1
278.9INS, INSR, LEP
288.9LEP, INSR, INS
298.9LEP, INSR, INS
30
Hide members
8.7IGF1R, IGF1, INS, INSR
318.7IGF1R, IGF1, INS, INSR
32
Hide members
8.7IGF1R, IGF1, INS, INSR
338.7INSR, INS, IGF1, IGF1R
34
Hide members
8.5GH1, IGF1R, IGF1, INSR
35
Hide members
8.5GH1, IGF1R, IGF1, INSR
36
Hide members
8.5INSR, IGF1, IGF1R, GH1
37
Hide members
8.5GH1, IGF1R, IGF1, INSR
38
Hide members
8.5INSR, IGF1, IGF1R, GH1
39
Hide members
8.5GH1, IGF1R, IGF1, INSR
408.2GH1, IGF1, INS, LEP
418.1GH1, IGF1R, IGF1, INS, INSR
42
Hide members
8.1GH1, IGF1R, IGF1, INS, INSR
43
Hide members
8.1INSR, INS, IGF1, IGF1R, GH1
44
Hide members
8.1INSR, INS, IGF1, IGF1R, GH1
45
Translation Insulin regulation of translation
Hide members
7.6INSR, INS, IGF1, IGF1R, IGFBP3, GH1

Compounds for genes affiliated with Rabson-Mendenhall Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1estradiol45 11 2412.0IGF1R
2tamoxifen45 50 29 1112.8IGF1, IGF1R
3dehydroepiandrosterone sulfate459.8IGFBP3, GH1
4gnrh459.8GH1, IGFBP3
5picropodophyllotoxin609.5IGF1, INSR, IGF1R
6insulin (human) recombinant609.5INSR, IGF1, IGF1R
7bms 536924609.5IGF1, INSR, IGF1R
8demethylasterriquinone b1609.5IGF1R, IGF1, INSR
9ag 1024459.4INSR, IGF1, IGF1R
10serine459.3GH1, LEP
11rosiglitazone45 50 29 11 2413.3INSR, LEP, INS
12raloxifene45 29 50 1112.2IGF1R, IGF1, GH1
13ly294002459.2LEP, INSR, IGF1R
14ghrp459.1GH1, IGFBP3, IGF1
152-deoxyglucose45 1110.0INSR, INS, IGF1, IGF1R
16glucose459.0IGF1, IGF1R, IGFBP3, INSR
17dexamethasone45 50 29 1112.0INSR, GH1, IGF1R, INS
18oxandrolone45 119.9GH1, IGFBP3, INS, IGF1
19pyridostigmine45 119.9IGF1, IGFBP3, GH1
20aicar45 11 2410.8LEP, INSR, INS, IGF1
21progestin458.8IGF1R, INSR, IGFBP3, IGF1
22beta-hydroxybutyrate458.7GH1, INS, LEP
23mecasermin45 119.6IGFBP3, INSR, INS, IGF1, IGF1R
24megestrol acetate458.6LEP, IGFBP3, IGF1
25hexarelin45 299.6GH1, IGFBP3, IGF1
26acipimox45 299.6GH1, LEP, IGF1, INS
27cortisone45 249.6IGF1, GH1, INS, LEP
28l-nmma458.5GH1, INSR, LEP, IGF1
29ibmx45 29 6010.5INS, IGF1, IGF1R, GH1, INSR
30acth458.4LEP, IGF1, IGFBP3, GH1
31clonidine45 29 1110.4LEP, GH1, IGFBP3, IGF1
32triiodothyronine458.3IGFBP3, IGF1, GH1, LEP
33vitamin d458.2IGFBP3, IGF1, IGF1R, GH1, INSR
34metformin45 50 1110.2INSR, INS, LEP, GH1, IGF1
35rapamycin458.1LEP, INSR, INS, IGF1, IGF1R
36glycerol45 11 2410.1INSR, INS, IGFBP3, GH1, LEP
37dhea458.1GH1, LEP, INS, IGFBP3, IGF1
38androstenedione45 249.1IGFBP3, IGF1, LEP, GH1, INS
39epinephrine45 11 2410.0IGFBP3, INS, INSR, GH1, LEP
40clomiphene citrate458.0IGF1, INS, INSR, IGF1R, IGFBP3, GH1
41octreotide45 60 29 1111.0INSR, GH1, IGFBP3, IGF1R, INS, IGF1
42creatinine457.8INS, LEP, INSR, IGF1R, IGFBP3, IGF1
43pd 98,059457.8GH1, IGF1, LEP, INSR, IGF1R
44thyroxine45 248.7GH1, IGFBP3, IGF1, INSR, LEP, INS
45wortmannin457.7LEP, IGF1R, IGF1, GH1, INS, INSR
46dihydrotestosterone45 29 11 2410.6LEP, INSR, IGF1, IGF1R, IGFBP3, GH1
47vegf457.4IGFBP3, LEP, INSR, IGF1, IGF1R, GH1
48c-peptide457.2LEP, INSR, INS, IGF1, GH1, IGFBP3
49testosterone45 60 11 2410.2GH1, INSR, IGFBP3, LEP, IGF1R, IGF1
50arginine457.2LEP, IGFBP3, INSR, INS, IGF1, IGF1R

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.4IGFBP3, IGF1
2extracellular regionGO:0055767.6GH1, IGFBP3, IGF1, INS, LEP
3extracellular spaceGO:0056157.3GH1, IGFBP3, IGF1, INS, LEP

Biological processes related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:06026710.0INS, INSR
2male sex determinationGO:0302389.8INSR, IGF1R
3activation of protein kinase B activityGO:0321489.7INSR, INS
4positive regulation of nitric oxide biosynthetic processGO:0454299.7INSR, INS
5insulin-like growth factor receptor signaling pathwayGO:0480099.6IGF1, IGF1R
6positive regulation of glycolysisGO:0458219.6IGF1, INS, INSR
7positive regulation of glycogen biosynthetic processGO:0457259.6INSR, INS, IGF1
8positive regulation of developmental growthGO:0486399.6INSR, LEP
9positive regulation of glucose importGO:0463269.6IGF1, INS, INSR
10positive regulation of mitosisGO:0458409.5IGF1, INS, INSR
11exocrine pancreas developmentGO:0310179.5INSR, IGF1, IGF1R
12positive regulation of insulin receptor signaling pathwayGO:0466289.5LEP, INS
13bone mineralization involved in bone maturationGO:0356309.5LEP, IGF1
14positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.5GH1, IGF1
15mammary gland developmentGO:0308799.4IGF1, IGF1R
16positive regulation of cell migrationGO:0303359.4IGF1R, INS, INSR
17insulin receptor signaling pathwayGO:0082869.3IGF1R, INS, INSR
18response to vitamin EGO:0331979.3LEP, IGF1R
19positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.3INS, IGF1, GH1
20positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.2GH1, IGF1, INS
21positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.2IGF1, IGFBP3, GH1
22positive regulation of DNA replicationGO:0457409.1IGF1R, IGF1, INS, INSR
23positive regulation of protein kinase B signaling cascadeGO:0518979.1IGF1R, IGF1, INS, INSR
24positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425178.7LEP, GH1
25positive regulation of cell proliferationGO:0082848.2IGF1R, IGF1, INS, INSR, LEP
26positive regulation of MAPK cascadeGO:0434107.7LEP, INSR, INS, IGF1, IGF1R, IGFBP3

Molecular functions related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1insulin bindingGO:0435599.6INSR, IGF1R
2insulin receptor substrate bindingGO:0435609.6INSR, IGF1R
3phosphatidylinositol 3-kinase bindingGO:0435489.6INSR, IGF1R
4insulin-like growth factor receptor bindingGO:0051599.4INSR, INS, IGF1
5insulin-like growth factor I bindingGO:0319949.3INSR, IGF1R, IGFBP3
6insulin receptor bindingGO:0051589.2IGF1R, IGF1, INS
7insulin-like growth factor bindingGO:0055209.1IGF1R, IGFBP3
8growth factor activityGO:0080838.5GH1, IGF1, LEP
9hormone activityGO:0051798.3GH1, IGF1, INS, LEP

Products for genes affiliated with Rabson-Mendenhall Syndrome

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Sources for Rabson-Mendenhall Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet