MCID: RBS003
MIFTS: 56

Rabson-Mendenhall Syndrome malady

Skin diseases, Endocrine diseases categories

Summaries for Rabson-Mendenhall Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 cerebritis and hepatitis, and has symptoms including coarse/thick hair, proteinuria and thyroid anomalies. 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 skin, pineal and liver, and related mouse phenotypes are reproductive system and adipose tissue.

Description from OMIM:46 262190

Aliases & Classifications for Rabson-Mendenhall Syndrome

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42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rabson-mendenhall syndrome 42 46 44 48 60
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 42 20
mendenhall syndrome 42


External Ids:

OMIM46 262190
MESH via Orphanet35 D056731
ICD10 via Orphanet26 E13
SNOMED-CT via Orphanet57 33559001
UMLS via Orphanet61 C0271695

Related Diseases for Rabson-Mendenhall Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Rabson-Mendenhall Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1cerebritis10.4
2hepatitis10.4
3myotonic dystrophy10.0INSR
4dementia10.0INSR
5hyperinsulinemic hypoglycemia10.0INS
6rheumatoid arthritis10.0INSR
7thyrotoxicosis10.0INS
8pancreatitis10.0INS
9leiomyoma10.0INSR
10blindness10.0INS
11ischemia10.0INSR
12multiple myeloma10.0IGF1
13lactic acidosis10.0INS
14maturity-onset diabetes of the young10.0INS
15metabolic acidosis10.0IGF1
16retinoblastoma10.0INSR
17graves' disease10.0IGF1R
18sheehan syndrome10.0IGF1
19cervical cancer10.0IGFBP3
20cystic fibrosis10.0INS
21amyotrophic lateral sclerosis10.0IGF1
22rhabdomyosarcoma10.0IGF1R
23polycythemia vera10.0IGF1R
24neuropathy10.0INS
25glucagonoma10.0GH1
26endometrial carcinoma10.0IGF1R
27short bowel syndrome10.0GH1
28neonatal diabetes mellitus10.0INS
29sarcoma10.0IGF1R
30donohue syndrome10.0INSR, INS
31hypoadrenalism10.0GH1
32schizophrenia10.0INSR, INS
33alzheimer's disease10.0INS, INSR
34hypercholesterolemia10.0INS, INSR
35autonomic neuropathy10.0INS
36myopathy10.0INS, IGF1
37arthritis10.0LEP
38bulimia nervosa10.0LEP
39pheochromocytoma10.0INSR
40acquired generalized lipodystrophy10.0LEP
41werner syndrome10.0IGFBP3, INSR
42adenocarcinoma10.0INSR, IGF1R
43lung cancer10.0IGF1R, IGF1
44noonan syndrome10.0IGFBP3, IGF1
45craniopharyngioma10.0IGF1, GH1
46hyperprolactinemia10.0IGF1, GH1
47myeloma10.0IGF1, IGF1R
48prolactinoma10.0IGF1, GH1
49gigantism10.0IGF1, GH1
50proliferative diabetic retinopathy10.0IGF1, IGFBP3

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



Diseases related to rabson-mendenhall syndrome

Clinical Features for Rabson-Mendenhall Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

262190

Clinical synopsis from OMIM:

262190

Symptoms:

48 (show all 27)
  • coarse/thick hair
  • proteinuria
  • thyroid anomalies
  • precocious puberty
  • peripheral neuropathy
  • short stature/dwarfism/nanism
  • premature ageing
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • abnormal/polycystic ovaries
  • thick skin/pachydermia/orange skin
  • dry/squaly skin/exfoliation
  • short hand/brachydactyly
  • 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
  • coarse face

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests
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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

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32MalaCards
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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

32
Skin, Pineal, Liver, Pancreas, Thyroid, Ovary

Animal Models for Rabson-Mendenhall Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Rabson-Mendenhall Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.5GH1, INSR
2MP:00053759.0IGFBP3, IGF1R, GH1
3MP:00053977.9LEP, IGF1, INS, INSR, IGF1R
4MP:00053857.6LEP, INSR, INS, IGF1, IGF1R
5MP:00053697.5IGF1, LEP, INSR, INS, IGF1R, IGFBP3
6MP:00053707.4GH1, IGF1R, INS, IGFBP3, INSR, LEP
7MP:00036317.2LEP, INS, IGF1, IGF1R, INSR, GH1
8MP:00053786.9LEP, IGFBP3, INSR, INS, IGF1, IGF1R
9MP:00053766.7INSR, IGFBP3, GH1, LEP, IGF1R, IGF1

Publications for Rabson-Mendenhall Syndrome

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Genetic Variations for Rabson-Mendenhall Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Rabson-Mendenhall Syndrome:

62
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
52R&D Systems, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 51QIAGEN, 4Cell Signaling Technology
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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
49.7INS, INSR
5
Transcription Transcription factor Tubby signaling pathways
Hide members
9.7INSR, INS
6
Hide members
9.7INSR, INS
79.7INSR, INS
8
Hide members
9.6INSR, IGF1R
99.6INSR, IGF1R
109.5INS, IGF1R
119.5IGFBP3, IGF1
12
G-protein signaling RhoA regulation pathway
Hide members
9.5IGF1, IGF1R
139.5IGF1R, IGF1
14
Hide members
9.5GH1, INSR
15
Hide members
9.2INS, LEP
169.2IGF1, INS, INSR
179.2IGF1R, INS, INSR
18
Hide members
9.2INSR, INS, IGF1R
19
Development Ligand-independent activation of ESR1 and ESR2
Hide members
9.1IGF1, IGF1R, INSR
20
Hide members
9.1IGF1R, IGF1, INSR
21
Hide members
9.1INSR, IGF1, IGF1R
22
Hide members
9.1IGF1, INS, IGF1R
23
Hide members
9.1IGF1R, IGF1, INS
24
Hide members
9.0IGF1R, IGF1, IGFBP3
258.9IGF1R, GH1, IGF1
26
Hide members
8.9IGF1, IGF1R, GH1
278.9INS, INSR, LEP
288.9LEP, INS, INSR
298.9INS, INSR, LEP
308.7IGF1R, IGF1, INS, INSR
318.7IGF1R, INSR, INS, IGF1
32
Hide members
8.7IGF1, INSR, IGF1R, INS
33
Hide members
8.7INS, INSR, IGF1, IGF1R
34
Hide members
8.5IGF1, INSR, IGF1R, GH1
35
Hide members
8.5IGF1, GH1, IGF1R, INSR
36
Hide members
8.5INSR, IGF1, GH1, IGF1R
37
Hide members
8.5INSR, IGF1R, GH1, IGF1
38
Hide members
8.5IGF1, GH1, INSR, IGF1R
39
Hide members
8.5GH1, IGF1R, INSR, IGF1
408.2LEP, GH1, IGF1, INS
41
Hide members
8.1IGF1R, INSR, INS, IGF1, GH1
428.1INS, INSR, IGF1, GH1, IGF1R
43
Hide members
8.1IGF1, GH1, IGF1R, INS, INSR
44
Hide members
8.1GH1, INSR, IGF1, INS, IGF1R
45
Translation Insulin regulation of translation
Hide members
7.6IGFBP3, GH1, IGF1R, IGF1, INS, INSR

Compounds for genes affiliated with Rabson-Mendenhall Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 144)
idCompoundScoreTop Affiliating Genes
1estradiol44 11 2412.0IGF1R
2tamoxifen44 49 28 1112.8IGF1, IGF1R
3dehydroepiandrosterone sulfate449.8IGFBP3, GH1
4gnrh449.8GH1, IGFBP3
5picropodophyllotoxin599.5IGF1, INSR, IGF1R
6insulin (human) recombinant599.5INSR, IGF1, IGF1R
7bms 536924599.5IGF1, INSR, IGF1R
8demethylasterriquinone b1599.5IGF1R, IGF1, INSR
9ag 1024449.4INSR, IGF1, IGF1R
10serine449.3GH1, LEP
11rosiglitazone44 49 28 11 2413.3INSR, LEP, INS
12raloxifene44 28 49 1112.2IGF1R, IGF1, GH1
13ly294002449.2LEP, INSR, IGF1R
14ghrp449.1GH1, IGFBP3, IGF1
152-deoxyglucose44 1110.0INSR, INS, IGF1, IGF1R
16glucose449.0IGF1, IGF1R, IGFBP3, INSR
17dexamethasone44 49 28 1112.0INSR, GH1, IGF1R, INS
18oxandrolone44 119.9GH1, IGFBP3, INS, IGF1
19pyridostigmine44 119.9IGF1, IGFBP3, GH1
20aicar44 11 2410.8LEP, INSR, INS, IGF1
21progestin448.8IGF1R, INSR, IGFBP3, IGF1
22beta-hydroxybutyrate448.7GH1, INS, LEP
23mecasermin44 119.6IGFBP3, INSR, INS, IGF1, IGF1R
24megestrol acetate448.6LEP, IGFBP3, IGF1
25hexarelin44 289.6GH1, IGFBP3, IGF1
26acipimox44 289.6GH1, LEP, IGF1, INS
27cortisone44 249.6IGF1, GH1, INS, LEP
28l-nmma448.5GH1, INSR, LEP, IGF1
29ibmx44 28 5910.5INS, IGF1, IGF1R, GH1, INSR
30acth448.4LEP, IGF1, IGFBP3, GH1
31clonidine44 28 1110.4LEP, GH1, IGFBP3, IGF1
32triiodothyronine448.3IGFBP3, IGF1, GH1, LEP
33vitamin d448.2IGFBP3, IGF1, IGF1R, GH1, INSR
34metformin44 49 1110.2INSR, INS, LEP, GH1, IGF1
35rapamycin448.1LEP, INSR, INS, IGF1, IGF1R
36glycerol44 11 2410.1INSR, INS, IGFBP3, GH1, LEP
37dhea448.1GH1, LEP, INS, IGFBP3, IGF1
38androstenedione44 249.1IGFBP3, IGF1, LEP, GH1, INS
39epinephrine44 11 2410.0IGFBP3, INS, INSR, GH1, LEP
40clomiphene citrate448.0IGF1, INS, INSR, IGF1R, IGFBP3, GH1
41octreotide44 59 28 1111.0INSR, GH1, IGFBP3, IGF1R, INS, IGF1
42creatinine447.8INS, LEP, INSR, IGF1R, IGFBP3, IGF1
43pd 98,059447.8GH1, IGF1, LEP, INSR, IGF1R
44thyroxine44 248.7GH1, IGFBP3, IGF1, INSR, LEP, INS
45wortmannin447.7LEP, IGF1R, IGF1, GH1, INS, INSR
46dihydrotestosterone44 28 11 2410.6LEP, INSR, IGF1, IGF1R, IGFBP3, GH1
47vegf447.4IGFBP3, LEP, INSR, IGF1, IGF1R, GH1
48c-peptide447.2LEP, INSR, INS, IGF1, GH1, IGFBP3
49testosterone44 59 11 2410.2GH1, INSR, IGFBP3, LEP, IGF1R, IGF1
50arginine447.2LEP, IGFBP3, INSR, INS, IGF1, IGF1R

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

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16Gene Ontology
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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:0454299.7INS, INSR
5insulin-like growth factor receptor signaling pathwayGO:0480099.6IGF1R, IGF1
6positive regulation of glycolysisGO:0458219.6INSR, IGF1, INS
7positive regulation of developmental growthGO:0486399.6INSR, LEP
8positive regulation of glycogen biosynthetic processGO:0457259.6IGF1, INSR, INS
9positive regulation of glucose importGO:0463269.6INS, IGF1, INSR
10positive regulation of mitosisGO:0458409.5IGF1, INSR, INS
11exocrine pancreas developmentGO:0310179.5IGF1, IGF1R, INSR
12positive regulation of insulin receptor signaling pathwayGO:0466289.5LEP, INS
13bone mineralization involved in bone maturationGO:0356309.5IGF1, LEP
14positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.5GH1, IGF1
15mammary gland developmentGO:0308799.4IGF1, IGF1R
16positive regulation of cell migrationGO:0303359.4INSR, INS, IGF1R
17response to vitamin EGO:0331979.3IGF1R, LEP
18insulin receptor signaling pathwayGO:0082869.3INSR, INS, 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:0435689.2IGFBP3, IGF1, GH1
22positive regulation of DNA replicationGO:0457409.1INS, IGF1, IGF1R, INSR
23positive regulation of protein kinase B signaling cascadeGO:0518979.1INSR, INS, IGF1, IGF1R
24positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425178.7GH1, LEP
25positive regulation of cell proliferationGO:0082848.2LEP, IGF1R, IGF1, INS, INSR
26positive regulation of MAPK cascadeGO:0434107.7IGFBP3, IGF1R, IGF1, INS, INSR, LEP

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1insulin bindingGO:0435599.6IGF1R, INSR
2insulin receptor substrate bindingGO:0435609.6INSR, IGF1R
3insulin-like growth factor bindingGO:0055209.4IGFBP3, IGF1R
4insulin-like growth factor receptor bindingGO:0051599.4IGF1, INS, INSR
5phosphatidylinositol 3-kinase bindingGO:0435489.3INSR, IGF1R
6insulin-like growth factor I bindingGO:0319949.3INSR, IGF1R, IGFBP3
7insulin receptor bindingGO:0051589.2IGF1R, IGF1, INS
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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet