MCID: RBS003
MIFTS: 60

Rabson-Mendenhall Syndrome malady

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

Aliases & Classifications for Rabson-Mendenhall Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Rabson-Mendenhall Syndrome, Aliases & Descriptions:

Name: Rabson-Mendenhall Syndrome 45 10 41 21 43 47 60
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 45 41 20 21
Pineal Hyperplasia and Diabetes Mellitus Syndrome 21 22
 
Mendenhall Syndrome 41 21
Rms 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 262190
Orphanet47 769
MESH via Orphanet34 D056731
ICD10 via Orphanet26 E13
UMLS via Orphanet61 C0271695

Summaries for Rabson-Mendenhall Syndrome

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NIH Rare Diseases:41 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 based summary: Rabson-Mendenhall Syndrome, also known as pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, is related to rhabdomyosarcoma and insulin-like growth factor i, and has symptoms including enlarged penis, coarse facial features and mandibular prognathia. 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.

Genetics Home Reference:21 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.

Description from OMIM:45 262190

Related Diseases for Rabson-Mendenhall Syndrome

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma10.6
2insulin-like growth factor i10.6
3medullary sponge kidney10.6
4hyperinsulinemic hypoglycemia10.5INS
5hepatitis10.4
6cerebritis10.4
7leprechaunism10.3INS, INSR
8acquired generalized lipodystrophy10.3LEP
9embryonal rhabdomyosarcoma10.3
10turner syndrome10.2IGF1, IGFBP3
11oligomenorrhea10.2INS, GH1
12pituitary gland disease10.2GH1, IGF1
13noonan syndrome 110.2IGF1, IGFBP3
14empty sella syndrome10.2GH1, IGF1
15gonadal disease10.2IGF1, GH1
16werner syndrome10.2IGFBP3, INSR
17gigantism10.2IGF1, GH1
18hypothryoidism, congenital, nongoitrous 410.2GH1, IGF1
19pituitary hormone deficiency, combined, 210.2GH1, IGF1
20marasmus10.1IGFBP3, GH1
21fetal macrosomia10.1LEP, INS
22craniopharyngioma10.1IGF1, GH1
23microvascular complications of diabetes 110.1IGF1, IGFBP3
24hyperprolactinemia10.1IGF1, GH1
25microvascular complications of diabetes 510.1INSR, INS, IGF1
26familial partial lipodystrophy10.1INS, LEP
27hepatoblastoma10.1INSR, IGF1R
28gastrinoma10.1GH1, IGF1R
29renal clear cell carcinoma10.1IGF1R, IGFBP3
30metabolic syndrome x10.1INS, LEP
31eating disorder10.1LEP, INS
32protein-energy malnutrition10.1LEP, IGF1
33morbid obesity10.1LEP, INS
34prolactinoma10.1GH1, IGF1
35insulinoma10.0INS, INSR, GH1
36systemic lupus erythematosus10.0
37large cell carcinoma with rhabdoid phenotype10.0
38botryoid rhabdomyosarcoma10.0
39lupus erythematosus10.0
40lymphadenitis10.0
41pediatric systemic lupus erythematosus10.0
42hypothyroidism10.0LEP, IGFBP3
43fatty liver disease10.0LEP, INS
44pituitary tumors10.0GH1, IGF1
45laron dwarfism10.0IGFBP3, IGF1, GH1
46pituitary gigantism10.0IGFBP3, IGF1, GH1
47adrenal gland hyperfunction10.0GH1, LEP
48idiopathic juvenile osteoporosis10.0GH1, IGF1, IGFBP3
49berardinelli-seip congenital lipodystrophy10.0LEP, INSR, INS
50dwarfism10.0IGFBP3, IGF1, GH1

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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Symptoms by clinical synopsis from OMIM:

262190

Clinical features from OMIM:

262190

Symptoms:

 47 (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

HPO human phenotypes related to Rabson-Mendenhall Syndrome:

(show all 44)
id Description Frequency HPO Source Accession
1 enlarged penis hallmark (90%) HP:0000040
2 coarse facial features hallmark (90%) HP:0000280
3 mandibular prognathia hallmark (90%) HP:0000303
4 diabetes mellitus hallmark (90%) HP:0000819
5 growth hormone excess hallmark (90%) HP:0000845
6 acanthosis nigricans hallmark (90%) HP:0000956
7 abnormality of the fingernails hallmark (90%) HP:0001231
8 intrauterine growth retardation hallmark (90%) HP:0001511
9 abnormality of the abdominal wall hallmark (90%) HP:0004298
10 congenital, generalized hypertrichosis hallmark (90%) HP:0004540
11 advanced eruption of teeth hallmark (90%) HP:0006288
12 female pseudohermaphroditism hallmark (90%) HP:0010458
13 proteinuria typical (50%) HP:0000093
14 abnormality of the thyroid gland typical (50%) HP:0000820
15 precocious puberty typical (50%) HP:0000826
16 dry skin typical (50%) HP:0000958
17 brachydactyly syndrome typical (50%) HP:0001156
18 coarse hair typical (50%) HP:0002208
19 short stature typical (50%) HP:0004322
20 prematurely aged appearance typical (50%) HP:0007495
21 peripheral neuropathy typical (50%) HP:0009830
22 polycystic ovaries occasional (7.5%) HP:0000147
23 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
24 autosomal recessive inheritance HP:0000007
25 enlarged penis HP:0000040
26 clitoromegaly HP:0000057
27 high palate HP:0000218
28 coarse facial features HP:0000280
29 mandibular prognathia HP:0000303
30 precocious puberty HP:0000826
31 insulin-resistant diabetes mellitus HP:0000831
32 hyperinsulinemia HP:0000842
33 acanthosis nigricans HP:0000956
34 dry skin HP:0000958
35 hypertrichosis HP:0000998
36 global developmental delay HP:0001263
37 small for gestational age HP:0001518
38 hypoglycemia HP:0001943
39 diabetic ketoacidosis HP:0001953
40 hyperglycemia HP:0003074
41 fasting hypoglycemia HP:0003162
42 short stature HP:0004322
43 advanced eruption of teeth HP:0006288
44 onychauxis HP:0012542

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rabson-Mendenhall Syndrome

Search NIH Clinical Center for Rabson-Mendenhall Syndrome

Genetic Tests for Rabson-Mendenhall Syndrome

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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
2 Pineal Hyperplasia and Diabetes Mellitus Syndrome22

Anatomical Context for Rabson-Mendenhall Syndrome

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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

31
Skin, Pineal, Liver, Pancreas, Thyroid, Ovary, Kidney

Animal Models for Rabson-Mendenhall Syndrome or affiliated genes

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Publications for Rabson-Mendenhall Syndrome

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Articles related to Rabson-Mendenhall Syndrome:

(show all 28)
idTitleAuthorsYear
1
Rabson-mendenhall syndrome. (25484423)
2014
2
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. (23497647)
2013
3
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. (23347304)
2013
4
Rabson-Mendenhall syndrome. (23263437)
2012
5
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
6
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
7
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. (21869538)
2011
8
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. (20155514)
2010
9
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. (20711714)
2010
10
Long survival in Rabson-Mendenhall syndrome. (20627358)
2010
11
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
12
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. (18405695)
2008
13
Rabson-Mendenhall syndrome. (18717867)
2008
14
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. (17849153)
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
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
24
Rabson-Mendenhall syndrome]. (7983791)
1994
25
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. (8077364)
1994
26
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
27
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
28
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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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Rabson-Mendenhall Syndrome:

6
id Gene Variation 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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Search GEO for disease gene expression data for Rabson-Mendenhall Syndrome.

Pathways for genes affiliated with Rabson-Mendenhall Syndrome

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Pathways related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(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 Pathway36
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 Glioblastoma36
9.1IGF1, IGF1R, INS
17
Show member pathways
9.1IGF1, IGF1R, INS
18
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
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 Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.9LEP, INSR, INS
24
Show member pathways
8.9LEP, INSR, INS
25
Show member pathways
8.9INS, INSR, LEP
268.9LEP, INSR, INS
27
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.7IGF1, IGF1R, INS, INSR
288.7IGF1, IGF1R, INS, INSR
29
Show member pathways
8.7IGF1, IGF1R, INS, INSR
308.7IGF1, IGF1R, INS, INSR
31
Show member pathways
8.7INSR, INS, IGF1R, IGF1
32
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.6INSR, INS, IGF1R, IGFBP3
33
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.6GH1, LEP, INS
348.6INS, IGF1R, IGF1, IGFBP3
35
Show member pathways
8.5IGF1, IGF1R, INSR, GH1
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
8.5GH1, INSR, IGF1R, IGF1
40
Show member pathways
8.5GH1, INSR, IGF1R, IGF1
418.2IGF1, INS, LEP, GH1
42
Show member pathways
8.2GH1, LEP, INS, IGF1
43
Show member pathways
8.1IGF1, IGF1R, INS, INSR, GH1
448.1IGF1, IGF1R, INS, INSR, GH1
45
Show member pathways
8.1GH1, INSR, INS, IGF1R, IGF1
46
Show member pathways
8.1GH1, INSR, INS, IGF1R, IGF1
47
Show member pathways
7.7IGF1R, INS, INSR, LEP, GH1
48
Show member pathways
7.6IGFBP3, IGF1, INS, LEP, GH1
49
Show member pathways
7.3IGF1, IGF1R, INS, INSR, LEP, GH1

Compounds for genes affiliated with Rabson-Mendenhall Syndrome

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Compounds related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1picropodophyllotoxin599.5IGF1, IGF1R, INSR
2insulin (human) recombinant599.5INSR, IGF1, IGF1R
3bms 536924599.5IGF1, IGF1R, INSR
4demethylasterriquinone b1599.5IGF1, IGF1R, INSR
5ag 1024439.2IGF1, IGF1R, INSR
62-deoxyglucose43 1210.0IGF1, IGF1R, INSR, INS
7oxandrolone43 129.9INS, GH1, IGF1, IGFBP3
8ghrp438.8IGFBP3, IGF1, GH1
9aicar43 24 1210.7LEP, INS, IGF1, INSR
10progestin438.7IGF1, IGF1R, INSR, IGFBP3
11raloxifene43 49 28 1211.7GH1, IGF1R, IGFBP3, IGF1
12mecasermin43 129.6IGF1, IGF1R, INS, INSR, IGFBP3
13beta-hydroxybutyrate438.6GH1, LEP, INS
14acipimox43 289.6IGF1, INS, LEP, GH1
15cortisone43 249.6LEP, IGF1, INS, GH1
16l-nmma438.5INSR, IGF1, GH1, LEP
17ibmx43 59 2810.5INSR, IGF1, INS, GH1, IGF1R
18clonidine43 49 28 1211.3IGFBP3, IGF1, LEP, GH1
19triiodothyronine438.2IGF1, GH1, LEP, IGFBP3
20metformin43 49 1210.2GH1, INSR, LEP, INS, IGF1
21vitamin d438.2IGFBP3, IGF1, GH1, IGF1R, INSR
22rosiglitazone28 43 49 24 1212.1INSR, IGFBP3, INS, LEP, GH1
23glycerol43 24 1210.1GH1, INSR, INS, IGFBP3, LEP
24rapamycin438.1LEP, INSR, IGF1R, IGF1, INS
25dehydroepiandrosterone sulfate438.1INS, GH1, LEP, IGF1, IGFBP3
26dhea438.1INS, IGFBP3, LEP, IGF1, GH1
27androstenedione43 249.1GH1, LEP, INS, IGFBP3, IGF1
28clomiphene citrate438.0INSR, GH1, INS, IGF1R, IGFBP3, IGF1
29octreotide43 59 28 1211.0IGF1R, INSR, IGF1, GH1, INS, IGFBP3
30epinephrine43 24 1210.0GH1, LEP, IGFBP3, INS, INSR
31acth438.0IGFBP3, LEP, IGF1, INS, GH1
32pd 98,059437.8IGF1, LEP, IGF1R, GH1, INSR
33ly294002437.8INSR, IGF1R, IGFBP3, LEP, IGF1, INS
34tamoxifen43 49 28 1210.8IGF1R, IGF1, IGFBP3, GH1, LEP
35estrone43 28 24 1210.8IGFBP3, LEP, GH1, IGF1
36thyroxine43 248.7LEP, IGF1, INS, INSR, GH1, IGFBP3
37wortmannin437.7LEP, GH1, IGF1, INSR, INS, IGF1R
38dihydrotestosterone43 28 24 1210.6IGFBP3, IGF1, IGF1R, INSR, LEP, GH1
39gnrh437.6IGF1R, GH1, INS, IGF1, IGFBP3, LEP
40estradiol43 24 129.5IGFBP3, IGF1R, IGF1, LEP, GH1
41cycloheximide437.5IGF1R, INSR, IGFBP3, IGF1, GH1, LEP
42vegf437.4INSR, LEP, IGF1R, IGF1, IGFBP3, GH1
43c-peptide437.2IGF1, IGFBP3, IGF1R, INS, INSR, LEP
44creatinine437.2LEP, INSR, INS, GH1, IGF1R, IGF1
45testosterone43 59 24 1210.2INS, INSR, IGF1R, IGFBP3, IGF1, GH1
46dexamethasone43 49 28 1210.2INS, IGF1, IGF1R, INSR, LEP, GH1
47arginine437.2IGFBP3, IGF1, GH1, LEP, INSR, INS
48estrogen437.1INS, LEP, IGF1R, IGF1, IGFBP3, GH1
49glucose437.1IGF1R, IGF1, GH1, LEP, INSR, INS
50serine437.0INSR, GH1, LEP, INS, IGF1, IGFBP3

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

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Cellular components related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.6INSR, IGF1R
2insulin-like growth factor binding protein complexGO:00169429.5IGF1, IGFBP3
3extracellular spaceGO:00056157.5GH1, LEP, INS, IGF1, IGFBP3
4extracellular regionGO:00055767.3IGFBP3, IGF1, INS, LEP, GH1

Biological processes related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:006026710.0INSR, INS
2activation of protein kinase B activityGO:00321489.9INSR, INS
3male sex determinationGO:00302389.8INSR, IGF1R
4positive regulation of nitric oxide biosynthetic processGO:00454299.8INS, INSR
5insulin-like growth factor receptor signaling pathwayGO:00480099.7IGF1, IGF1R
6mammary gland developmentGO:00308799.6IGF1, IGF1R
7positive regulation of developmental growthGO:00486399.6INSR, LEP
8positive regulation of glycolytic processGO:00458219.6IGF1, INS, INSR
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.6GH1, IGF1
10positive regulation of glycogen biosynthetic processGO:00457259.6INSR, INS, IGF1
11positive regulation of glucose importGO:00463269.6INSR, INS, IGF1
12positive regulation of mitosisGO:00458409.6IGF1, INS, INSR
13positive regulation of insulin receptor signaling pathwayGO:00466289.5LEP, INS
14bone mineralization involved in bone maturationGO:00356309.5IGF1, LEP
15exocrine pancreas developmentGO:00310179.5INSR, IGF1R, IGF1
16positive regulation of cell migrationGO:00303359.5IGF1R, INS, INSR
17glucose transportGO:00157589.4GH1, INS
18insulin receptor signaling pathwayGO:00082869.4INSR, INS, IGF1R
19glucose homeostasisGO:00425939.4INSR, INS
20response to vitamin EGO:00331979.4LEP, IGF1R
21positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3GH1, INS, IGF1
22positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.3GH1, INS, IGF1
23regulation of insulin secretionGO:00507969.2LEP, INS
24positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.2IGFBP3, IGF1, GH1
25positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.1GH1, LEP
26positive regulation of DNA replicationGO:00457409.1IGF1, IGF1R, INS, INSR
27positive regulation of protein kinase B signalingGO:00518979.1IGF1, IGF1R, INS, INSR
28cellular protein metabolic processGO:00442679.0IGFBP3, IGF1, INS
29positive regulation of cell proliferationGO:00082848.2IGF1, IGF1R, INS, INSR, LEP
30positive regulation of MAPK cascadeGO:00434107.8LEP, INSR, INS, IGF1R, IGF1, IGFBP3

Molecular functions related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1insulin bindingGO:00435599.7INSR, IGF1R
2insulin receptor substrate bindingGO:00435609.6INSR, IGF1R
3phosphatidylinositol 3-kinase bindingGO:00435489.5IGF1R, INSR
4insulin-like growth factor receptor bindingGO:00051599.4IGF1, INS, INSR
5insulin-like growth factor I bindingGO:00319949.3INSR, IGF1R, IGFBP3
6insulin receptor bindingGO:00051589.2INS, IGF1R, IGF1
7insulin-like growth factor bindingGO:00055209.1IGFBP3, IGF1R
8growth factor activityGO:00080838.6IGF1, LEP, GH1
9hormone activityGO:00051798.4GH1, LEP, INS, IGF1
10protein bindingGO:00055157.6GH1, INSR, INS, IGF1R, IGF1, IGFBP3

Products for genes affiliated with Rabson-Mendenhall Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Rabson-Mendenhall Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet