MCID: RBS003
MIFTS: 62

Rabson-Mendenhall Syndrome malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases categories

Summaries for Rabson-Mendenhall Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 syndromeĀ may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head andĀ 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 recessiveĀ manner.Ā 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 medullary sponge kidney, 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 Insulin-mediated glucose transport and Type II diabetes mellitus. The compounds picropodophyllotoxin and insulin (human) recombinant have been mentioned in the context of this disorder. Affiliated tissues include skin, pineal and liver, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Description from OMIM:48 262190

Aliases & Classifications for Rabson-Mendenhall Syndrome

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44NIH Rare Diseases, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 21GeneTests, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rabson-mendenhall syndrome 44 48 46 50 63
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 44 21
mendenhall syndrome 44


External Ids:

OMIM48 262190
MESH via Orphanet37 D056731
ICD10 via Orphanet27 E13
SNOMED-CT via Orphanet60 33559001
UMLS via Orphanet64 C0271695

Related Diseases for Rabson-Mendenhall Syndrome

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18GeneCards, 19GeneDecks
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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 90)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance30.8IGFBP3, IGF1, IGF1R, INS, INSR, LEP
2medullary sponge kidney10.5
3cerebritis10.4
4hepatitis10.4
5hyperinsulinemic hypoglycemia10.1INS
6donohue syndrome10.1INS, INSR
7acquired generalized lipodystrophy10.1LEP
8turner syndrome10.1IGF1, IGFBP3
9noonan syndrome10.0IGF1, IGFBP3
10pituitary gland disease10.0GH1, IGF1
11empty sella syndrome10.0GH1, IGF1
12gonadal disease10.0IGF1, GH1
13werner syndrome10.0IGFBP3, INSR
14gigantism10.0IGF1, GH1
15thyrotropin deficiency, isolated10.0GH1, IGF1
16panhypopituitarism10.0GH1, IGF1
17marasmus10.0IGFBP3, GH1
18fetal macrosomia10.0LEP, INS
19craniopharyngioma10.0IGF1, GH1
20proliferative diabetic retinopathy10.0IGF1, IGFBP3
21hyperprolactinemia10.0IGF1, GH1
22diabetic retinopathy10.0INSR, INS, IGF1
23familial partial lipodystrophy10.0INS, LEP
24hepatoblastoma10.0INSR, IGF1R
25gastrinoma10.0GH1, IGF1R
26renal clear cell carcinoma10.0IGF1R, IGFBP3
27metabolic syndrome x10.0INS, LEP
28eating disorder10.0LEP, INS
29protein-energy malnutrition10.0LEP, IGF1
30morbid obesity10.0LEP, INS
31prolactinoma10.0GH1, IGF1
32insulinoma10.0INS, INSR, GH1
33hypothyroidism10.0LEP, IGFBP3
34fatty liver disease10.0LEP, INS
35pituitary tumors10.0GH1, IGF1
36laron syndrome10.0IGFBP3, IGF1, GH1
37acromegaly10.0IGFBP3, IGF1, GH1
38adrenal gland hyperfunction10.0GH1, LEP
39idiopathic juvenile osteoporosis10.0GH1, IGF1, IGFBP3
40growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGFBP3, IGF1, GH1
41congenital generalized lipodystrophy type 210.0LEP, INSR, INS
42dwarfism10.0IGFBP3, IGF1, GH1
43neuroendocrine tumor10.0IGF1R, GH1
44gestational diabetes10.0INS, INSR, LEP
45lipodystrophy10.0LEP, INSR, INS
46hypertriglyceridemia10.0INS, INSR, LEP
47essential hypertension10.0LEP, INSR, INS
48amenorrhea10.0LEP, INS, IGF1
49osteosarcoma10.0IGFBP3, IGF1, IGF1R
50galactosemia10.0LEP, INS, IGF1

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



Diseases related to rabson-mendenhall syndrome

Symptoms for Rabson-Mendenhall Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

262190

Clinical features from OMIM:

262190

Symptoms:

50 (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
  • 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
  • coarse face

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests
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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 Abnormalities21 INSR

Anatomical Context for Rabson-Mendenhall Syndrome

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34MalaCards
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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

34
Skin, Pineal, Liver, Pancreas, Thyroid, Ovary, Kidney

Animal Models for Rabson-Mendenhall Syndrome or affiliated genes

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38MGI
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Publications for Rabson-Mendenhall Syndrome

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53PubMed
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Articles related to Rabson-Mendenhall Syndrome:

(show all 26)
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
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. (18405695)
2008
11
Rabson-Mendenhall syndrome. (18717867)
2008
12
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. (17849153)
2007
13
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. (17201797)
2007
14
Rabson-Mendenhall syndrome. (15738613)
2005
15
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. (15232309)
2004
16
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. (15070911)
2004
17
What syndrome is this? Rabson-Mendenhall syndrome. (12047650)
2002
18
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. (11757582)
2001
19
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. (15016231)
2000
20
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. (10443650)
1999
21
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
22
Rabson-Mendenhall syndrome]. (7983791)
1994
23
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. (8077364)
1994
24
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
25
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
26
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

Variations for Rabson-Mendenhall Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Rabson-Mendenhall Syndrome:

65
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

Clinvar genetic disease variations for Rabson-Mendenhall Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1INSRNM_000208.2(INSR): c.126C> A (p.Asn42Lys)single nucleotide variantPathogenicrs121913143GRCh37Chr 19, 7267882: 7267882
2INSRNM_000208.2(INSR): c.3079C> T (p.Arg1027Ter)single nucleotide variantPathogenicrs121913144GRCh37Chr 19, 7125473: 7125473
3INSRNM_000208.2(INSR): c.3034G> A (p.Val1012Met)single nucleotide variantLikely pathogenic, Pathogenicrs1799816GRCh37Chr 19, 7125518: 7125518
4INSRNM_000208.2(INSR): c.1124-2A> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 7172436: 7172436
5INSRNM_000208.2(INSR): c.2480_2487delAGGACACC (p.Gln827Profs)deletionPathogenicGRCh38Chr 19, 7142871: 7142878

Expression for genes affiliated with Rabson-Mendenhall Syndrome

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 62Tocris Bioscience, 61Thomson Reuters, 54QIAGEN, 56Reactome, 5Cell Signaling Technology, 13EMD Millipore, 55R&D Systems
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Pathways related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7INS, INSR
2
Show member pathways
9.7INS, INSR
39.7INSR, INS
4
Show member pathways
Insulin Pathway39
9.7INSR, INS
59.7INSR, INS
69.6INS, IGF1
79.6INSR, IGF1R
89.5IGF1, IGFBP3
99.5IGF1, IGF1R
109.5IGF1R, IGF1
119.2INSR, INS, IGF1
12
Show member pathways
9.2IGF1R, INS, INSR
139.2INSR, INS, IGF1R
14
Show member pathways
9.1IGF1, IGF1R, INSR
15
Show member pathways
9.1INSR, IGF1R, IGF1
16
Show member pathways
Signaling Pathways in Glioblastoma39
9.1IGF1, IGF1R, INS
17
Show member pathways
9.1IGF1, IGF1R, INS
18
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.0IGF1R, IGF1, IGFBP3
199.0IGF1R, IGF1, IGFBP3
20
Show member pathways
8.9IGF1, IGF1R, GH1
218.9GH1, IGF1R, IGF1
22
Show member pathways
8.9GH1, IGF1R, IGF1
23
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.9LEP, INSR, INS
24
Show member pathways
8.9LEP, INSR, INS
25
Show member pathways
8.9INS, INSR, LEP
268.9INS, INSR, LEP
278.9LEP, INSR, INS
28
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
8.7IGF1, IGF1R, INS, INSR
298.7IGF1, IGF1R, INS, INSR
30
Show member pathways
8.7IGF1, IGF1R, INS, INSR
318.7IGF1, IGF1R, INS, INSR
32
Show member pathways
8.7INSR, INS, IGF1R, IGF1
33
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.6INSR, INS, IGF1R, IGFBP3
34
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.6GH1, LEP, INS
358.6INS, IGF1R, IGF1, IGFBP3
36
Show member pathways
8.5IGF1, IGF1R, INSR, GH1
37
Show member pathways
8.5IGF1, IGF1R, INSR, GH1
38
Show member pathways
8.5IGF1, IGF1R, INSR, GH1
39
Show member pathways
8.5IGF1, IGF1R, INSR, GH1
40
Show member pathways
8.5GH1, INSR, IGF1R, IGF1
41
Show member pathways
8.5GH1, INSR, IGF1R, IGF1
428.2IGF1, INS, LEP, GH1
43
Show member pathways
8.2GH1, LEP, INS, IGF1
44
Show member pathways
8.1IGF1, IGF1R, INS, INSR, GH1
458.1IGF1, IGF1R, INS, INSR, GH1
46
Show member pathways
8.1GH1, INSR, INS, IGF1R, IGF1
47
Show member pathways
8.1GH1, INSR, INS, IGF1R, IGF1
48
Show member pathways
7.7IGF1R, INS, INSR, LEP, GH1
49
Show member pathways
7.6IGFBP3, IGF1, INS, LEP, GH1
50
Show member pathways
7.3IGF1, IGF1R, INS, INSR, LEP, GH1

Compounds for genes affiliated with Rabson-Mendenhall Syndrome

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62Tocris Bioscience, 46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR
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Compounds related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1picropodophyllotoxin629.5IGF1, IGF1R, INSR
2insulin (human) recombinant629.5INSR, IGF1, IGF1R
3bms 536924629.5IGF1, IGF1R, INSR
4demethylasterriquinone b1629.5IGF1, IGF1R, INSR
5ag 1024469.2IGF1, IGF1R, INSR
62-deoxyglucose46 1210.0IGF1, IGF1R, INSR, INS
7oxandrolone46 129.9INS, GH1, IGF1, IGFBP3
8ghrp468.8IGFBP3, IGF1, GH1
9aicar46 25 1210.7LEP, INS, IGF1, INSR
10progestin468.7IGF1, IGF1R, INSR, IGFBP3
11raloxifene46 52 30 1211.7GH1, IGF1R, IGFBP3, IGF1
12mecasermin46 129.6IGF1, IGF1R, INS, INSR, IGFBP3
13beta-hydroxybutyrate468.6GH1, LEP, INS
14acipimox46 309.6IGF1, INS, LEP, GH1
15cortisone46 259.6LEP, IGF1, INS, GH1
16l-nmma468.5INSR, IGF1, GH1, LEP
17ibmx46 62 3010.5INSR, IGF1, INS, GH1, IGF1R
18clonidine46 52 30 1211.3IGFBP3, IGF1, LEP, GH1
19triiodothyronine468.2IGF1, GH1, LEP, IGFBP3
20metformin46 52 1210.2GH1, INSR, LEP, INS, IGF1
21vitamin d468.2IGFBP3, IGF1, GH1, IGF1R, INSR
22rosiglitazone30 46 52 25 1212.1INSR, IGFBP3, INS, LEP, GH1
23glycerol46 25 1210.1GH1, INSR, INS, IGFBP3, LEP
24rapamycin468.1LEP, INSR, IGF1R, IGF1, INS
25dehydroepiandrosterone sulfate468.1INS, GH1, LEP, IGF1, IGFBP3
26dhea468.1INS, IGFBP3, LEP, IGF1, GH1
27androstenedione46 259.1GH1, LEP, INS, IGFBP3, IGF1
28clomiphene citrate468.0INSR, GH1, INS, IGF1R, IGFBP3, IGF1
29octreotide46 62 30 1211.0IGF1R, INSR, IGF1, GH1, INS, IGFBP3
30epinephrine46 25 1210.0GH1, LEP, IGFBP3, INS, INSR
31acth468.0IGFBP3, LEP, IGF1, INS, GH1
32pd 98,059467.8IGF1, LEP, IGF1R, GH1, INSR
33ly294002467.8INSR, IGF1R, IGFBP3, LEP, IGF1, INS
34tamoxifen46 52 30 1210.8IGF1R, IGF1, IGFBP3, GH1, LEP
35estrone46 30 25 1210.8IGFBP3, LEP, GH1, IGF1
36thyroxine46 258.7LEP, IGF1, INS, INSR, GH1, IGFBP3
37wortmannin467.7LEP, GH1, IGF1, INSR, INS, IGF1R
38dihydrotestosterone46 30 25 1210.6IGFBP3, IGF1, IGF1R, INSR, LEP, GH1
39gnrh467.6IGF1R, GH1, INS, IGF1, IGFBP3, LEP
40estradiol46 25 129.5IGFBP3, IGF1R, IGF1, LEP, GH1
41cycloheximide467.5IGF1R, INSR, IGFBP3, IGF1, GH1, LEP
42vegf467.4INSR, LEP, IGF1R, IGF1, IGFBP3, GH1
43c-peptide467.2IGF1, IGFBP3, IGF1R, INS, INSR, LEP
44creatinine467.2LEP, INSR, INS, GH1, IGF1R, IGF1
45testosterone46 62 25 1210.2INS, INSR, IGF1R, IGFBP3, IGF1, GH1
46dexamethasone46 52 30 1210.2INS, IGF1, IGF1R, INSR, LEP, GH1
47arginine467.2IGFBP3, IGF1, GH1, LEP, INSR, INS
48estrogen467.1INS, LEP, IGF1R, IGF1, IGFBP3, GH1
49glucose467.1IGF1R, IGF1, GH1, LEP, INSR, INS
50serine467.0INSR, GH1, LEP, INS, IGF1, IGFBP3

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

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17Gene Ontology
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Cellular components related to Rabson-Mendenhall Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.6INSR, IGF1R
2insulin-like growth factor binding protein complexGO:0169429.5IGF1, IGFBP3
3extracellular spaceGO:0056157.5GH1, LEP, INS, IGF1, IGFBP3
4extracellular regionGO:0055767.3IGFBP3, IGF1, INS, LEP, GH1

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:06026710.0INSR, INS
2activation of protein kinase B activityGO:0321489.9INSR, INS
3male sex determinationGO:0302389.8INSR, IGF1R
4positive regulation of nitric oxide biosynthetic processGO:0454299.8INS, INSR
5insulin-like growth factor receptor signaling pathwayGO:0480099.7IGF1, IGF1R
6mammary gland developmentGO:0308799.6IGF1, IGF1R
7positive regulation of developmental growthGO:0486399.6INSR, LEP
8positive regulation of glycolytic processGO:0458219.6IGF1, INS, INSR
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.6GH1, IGF1
10positive regulation of glycogen biosynthetic processGO:0457259.6INSR, INS, IGF1
11positive regulation of glucose importGO:0463269.6INSR, INS, IGF1
12positive regulation of mitosisGO:0458409.6IGF1, INS, INSR
13positive regulation of insulin receptor signaling pathwayGO:0466289.5LEP, INS
14bone mineralization involved in bone maturationGO:0356309.5IGF1, LEP
15exocrine pancreas developmentGO:0310179.5INSR, IGF1R, IGF1
16positive regulation of cell migrationGO:0303359.5IGF1R, INS, INSR
17glucose transportGO:0157589.4GH1, INS
18insulin receptor signaling pathwayGO:0082869.4INSR, INS, IGF1R
19glucose homeostasisGO:0425939.4INSR, INS
20response to vitamin EGO:0331979.4LEP, IGF1R
21positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3GH1, INS, IGF1
22positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3GH1, INS, IGF1
23regulation of insulin secretionGO:0507969.2LEP, INS
24positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.2IGFBP3, IGF1, GH1
25positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.1GH1, LEP
26positive regulation of DNA replicationGO:0457409.1IGF1, IGF1R, INS, INSR
27positive regulation of protein kinase B signalingGO:0518979.1IGF1, IGF1R, INS, INSR
28cellular protein metabolic processGO:0442679.0IGFBP3, IGF1, INS
29positive regulation of cell proliferationGO:0082848.2IGF1, IGF1R, INS, INSR, LEP
30positive regulation of MAPK cascadeGO:0434107.8LEP, INSR, INS, IGF1R, IGF1, IGFBP3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1insulin bindingGO:0435599.7INSR, IGF1R
2insulin receptor substrate bindingGO:0435609.6INSR, IGF1R
3phosphatidylinositol 3-kinase bindingGO:0435489.5IGF1R, INSR
4insulin-like growth factor receptor bindingGO:0051599.4IGF1, INS, INSR
5insulin-like growth factor I bindingGO:0319949.3INSR, IGF1R, IGFBP3
6insulin receptor bindingGO:0051589.2INS, IGF1R, IGF1
7insulin-like growth factor bindingGO:0055209.1IGFBP3, IGF1R
8growth factor activityGO:0080838.6IGF1, LEP, GH1
9hormone activityGO:0051798.4GH1, LEP, INS, IGF1
10protein bindingGO:0055157.6GH1, INSR, INS, IGF1R, IGF1, IGFBP3

Products for genes affiliated with Rabson-Mendenhall Syndrome

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Sources for Rabson-Mendenhall Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet