MCID: RBS003
MIFTS: 53

Rabson-Mendenhall Syndrome malady

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

Aliases & Classifications for Rabson-Mendenhall Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Rabson-Mendenhall Syndrome:

Name: Rabson-Mendenhall Syndrome 49 11 45 22 23 47 51 65 67
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 45 22 23
Mendenhall Syndrome 45 23 67
 
Pineal Hyperplasia and Diabetes Mellitus Syndrome 23 24
Rms 23 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 262190
Orphanet51 769
ICD10 via Orphanet28 E13
MESH via Orphanet37 D056731
UMLS via Orphanet66 C0271695
MedGen34 C0271695

Summaries for Rabson-Mendenhall Syndrome

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NIH Rare Diseases:45 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 hypersensitivity reaction type ii disease and obstructive lung disease, and has symptoms including long 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 Pathway and Signaling events mediated by TCPTP. Affiliated tissues include skin, pineal and pancreas, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Rabson-Mendenhall syndrome: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive.

Description from OMIM:49 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 110)
idRelated DiseaseScoreTop Affiliating Genes
1hypersensitivity reaction type ii disease30.5IGF1, IGFBP3
2obstructive lung disease29.9IGF1, IGFBP3
3obesity29.4IGF1, IGFBP3, INS, INSR
4insulin-like growth factor i10.6
5medullary sponge kidney10.6
6rhabdomyosarcoma10.5
7hepatitis10.4
8cerebritis10.4
9multiple sclerosis, disease progression, modifier of10.3
10autoimmune disease of the nervous system10.3
11demyelinating disease10.3
12embryonal rhabdomyosarcoma10.3
13autoimmune disease 110.2
14multiple sclerosis 510.2
15gamma chain deficiency10.2
16insulin-resistance type b10.1INS, INSR
17autoimmune disease of central nervous system10.1
18relapsing-remitting multiple sclerosis10.1
19urinary system disease10.1
20best vitelliform macular dystrophy10.1INS, INSR
21slow-channel congenital myasthenic syndrome10.0IGF1, IGFBP3
22fatal infantile encephalomyopathy10.0IGF1, INSR
23breast large cell neuroendocrine carcinoma10.0IGF1, IGFBP3
24shigellosis10.0IGF1, IGFBP3
25progeria-associated arthropathy10.0IGF1, IGFBP3
26cetp-related hyperalphalipoproteinemia10.0IGF1, IGFBP3
27laron dwarfism10.0IGF1, IGFBP3
28duane retraction syndrome10.0IGF1, IGFBP3
29breast mucinous cystadenocarcinoma10.0IGF1, IGFBP3
30merrf syndrome10.0INS, INSR
31angular blepharoconjunctivitis10.0IGF1, INS
32exudative vitreoretinopathy 110.0IGF1, IGFBP3
33growth retardation alopecia pseudoanodontia optic10.0IGF1, IGFBP3
34hypopyon10.0IGF1, IGFBP3
35breast duct papilloma10.0IGF1, IGFBP3
36multiple sclerosis 410.0
37systemic lupus erythematosus10.0
38renal cell carcinoma, papillary10.0
39renal cell carcinoma10.0
40adult syndrome10.0
41autoimmune disease 410.0
42multiple sclerosis 310.0
43membranous nephropathy10.0
44autoimmune disease 310.0
45pregnancy loss, recurrent 210.0
46multiple endocrine neoplasia 110.0
47pulmonary disease, chronic obstructive10.0
48n syndrome10.0
49child syndrome10.0
50speech and communication disorders10.0

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:

 51 (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 long 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 long 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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Drugs for Rabson-Mendenhall Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Insulin, Globin ZincPhase 24069
2insulinPhase 24069

Interventional clinical trials:

idNameStatusNCT IDPhase
1Leptin to Treat Severe Insulin Resistance - Pilot StudyCompletedNCT00027456Phase 2
2Effect of Leptin Therapy in the Treatment of Severe Insulin ResistanceRecruitingNCT00085982Phase 2

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 Abnormalities22 INSR
2 Pineal Hyperplasia and Diabetes Mellitus Syndrome24

Anatomical Context for Rabson-Mendenhall Syndrome

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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

33
Skin, Pineal, Pancreas, Liver, Ovary, Thyroid, Kidney

Animal Models for Rabson-Mendenhall Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rabson-Mendenhall Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4IGF1R, IGFBP3, INS, INSR
2MP:00053798.4IGF1, IGFBP3, INS, INSR
3MP:00053757.8IGF1, IGF1R, IGFBP3, INS, INSR
4MP:00053897.8IGF1, IGF1R, INS, INSR
5MP:00053697.7IGF1, IGF1R, IGFBP3, INS, INSR
6MP:00053787.6IGF1, IGF1R, IGFBP3, INS, INSR
7MP:00053767.4IGF1, IGF1R, IGFBP3, INS, INSR

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:

67
id Symbol AA change Variation ID SNP ID
1INSRp.Asn42LysVAR_004079
2INSRp.His236ArgVAR_004084
3INSRp.Ser350LeuVAR_015914
4INSRp.Pro997ThrVAR_015921
5INSRp.Ile1143ThrVAR_015926
6INSRp.Arg1158TrpVAR_015928
7INSRp.Arg1201TrpVAR_015930
8INSRp.Gly386SerVAR_031520

Clinvar genetic disease variations for Rabson-Mendenhall Syndrome:

5
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.1124-2A> Gsingle nucleotide variantPathogenicrs587776819GRCh38Chr 19, 7172436: 7172436
4INSRNM_000208.2(INSR): c.2480_2487delAGGACACC (p.Gln827Profs)deletionPathogenicrs587776820GRCh38Chr 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 all 38)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5INS, INSR
29.5INS, INSR
39.5INS, INSR
49.5INS, INSR
5
Show member pathways
9.5INS, INSR
69.5INS, INSR
79.5INS, INSR
89.5INS, INSR
99.3IGF1, INS
109.3IGF1, IGFBP3
119.2IGF1R, INSR
129.2IGF1R, INSR
139.2IGF1R, INSR
149.0IGF1, IGF1R
15
Show member pathways
9.0IGF1, IGF1R
169.0IGF1, IGF1R
179.0IGF1, IGF1R
189.0IGF1, IGF1R
199.0IGF1, IGF1R
208.9IGF1, INS, INSR
21
Show member pathways
8.7IGF1R, INS, INSR
22
Show member pathways
8.6IGF1, IGF1R, INSR
23
Show member pathways
8.6IGF1, IGF1R, INSR
24
Show member pathways
8.5IGF1, IGF1R, INS
25
Show member pathways
8.5IGF1, IGF1R, INS
26
Show member pathways
8.5IGF1, IGF1R, IGFBP3
278.5IGF1, IGF1R, IGFBP3
288.2IGF1R, IGFBP3, INS, INSR
29
Show member pathways
8.1IGF1, IGF1R, INS, INSR
308.1IGF1, IGF1R, INS, INSR
31
Show member pathways
8.1IGF1, IGF1R, INS, INSR
32
Show member pathways
8.1IGF1, IGF1R, INS, INSR
33
Show member pathways
8.1IGF1, IGF1R, INS, INSR
34
Show member pathways
8.1IGF1, IGF1R, INS, INSR
358.1IGF1, IGF1R, INS, INSR
368.1IGF1, IGF1R, INS, INSR
378.0IGF1, IGF1R, IGFBP3, INS
38
Show member pathways
7.5IGF1, IGF1R, IGFBP3, INS, INSR

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
1insulin-like growth factor binding protein complexGO:00169429.8IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.8IGF1, IGFBP3
3caveolaGO:00059019.2IGF1R, INSR

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:006026710.2INS, INSR
2activation of protein kinase B activityGO:003214810.0INS, INSR
3positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.0IGF1, IGFBP3
4positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.8IGF1, INS
5positive regulation of nitric oxide biosynthetic processGO:00454299.7INS, INSR
6prostate gland epithelium morphogenesisGO:00607409.7IGF1, IGF1R
7positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.7IGF1, INS
8insulin-like growth factor receptor signaling pathwayGO:00480099.7IGF1, IGF1R
9phosphatidylinositol 3-kinase signalingGO:00140659.6IGF1, IGF1R
10mammary gland developmentGO:00308799.6IGF1, IGF1R
11positive regulation of glycogen biosynthetic processGO:00457259.5IGF1, INS, INSR
12peptidyl-tyrosine autophosphorylationGO:00380839.5IGF1R, INSR
13positive regulation of glycolytic processGO:00458219.4IGF1, INS, INSR
14positive regulation of glucose importGO:00463269.3IGF1, INS, INSR
15exocrine pancreas developmentGO:00310179.2IGF1, IGF1R, INSR
16male sex determinationGO:00302388.9IGF1R, INSR
17protein phosphorylationGO:00064688.7IGF1R, IGFBP3, INSR
18insulin receptor signaling pathwayGO:00082868.6IGF1R, INS, INSR
19positive regulation of protein kinase B signalingGO:00518978.5IGF1, IGF1R, INS, INSR
20positive regulation of cell migrationGO:00303358.3IGF1, IGF1R, INS, INSR
21positive regulation of DNA replicationGO:00457408.3IGF1, IGF1R, INS, INSR
22positive regulation of cell proliferationGO:00082848.2IGF1, IGF1R, INS, INSR
23positive regulation of mitotic nuclear divisionGO:00458408.1IGF1, IGF1R, INS, INSR
24positive regulation of MAPK cascadeGO:00434108.0IGF1, IGF1R, IGFBP3, INS, INSR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor II bindingGO:00319959.9IGFBP3, INSR
2insulin bindingGO:00435599.5IGF1R, INSR
3insulin receptor substrate bindingGO:00435609.5IGF1R, INSR
4phosphatidylinositol 3-kinase bindingGO:00435489.2IGF1R, INSR
5transmembrane receptor protein tyrosine kinase activityGO:00047149.2IGF1R, INSR
6insulin-like growth factor receptor bindingGO:00051599.2IGF1, INS, INSR
7insulin-like growth factor I bindingGO:00319949.1IGF1R, IGFBP3, INSR
8insulin-like growth factor bindingGO:00055208.8IGF1R, IGFBP3
9insulin receptor bindingGO:00051588.8IGF1, IGF1R, INS

Sources for Rabson-Mendenhall Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet