MCID: RBS003
MIFTS: 55

Rabson-Mendenhall Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Rabson-Mendenhall Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rabson-Mendenhall Syndrome:

Name: Rabson-Mendenhall Syndrome 50 46 23 24 52 68 12 48 66
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 50 46 23 24
Mendenhall Syndrome 46 24 68
 
Pineal Hyperplasia and Diabetes Mellitus Syndrome 24 25
Rms 24 68

Characteristics:

Orphanet epidemiological data:

52
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
rabson-mendenhall syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 262190
Orphanet52 ORPHA769
ICD10 via Orphanet29 E13
MESH via Orphanet38 D056731
UMLS via Orphanet67 C0271695
MedGen35 C0271695

Summaries for Rabson-Mendenhall Syndrome

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NIH Rare Diseases:46 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 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 Signaling events mediated by TCPTP and Insulin Pathway. Affiliated tissues include pineal, skin and pancreas, and related mouse phenotypes are liver/biliary system and integument.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 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 76)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma11.0
2insulin-like growth factor i10.4
3medullary sponge kidney10.4
4hirschsprung disease ganglioneuroblastoma10.3INS, INSR
5glucosidase acid-1,4-alpha deficiency10.3INS, INSR
6hepatitis10.3
7diabetic ketoacidosis10.3
8cerebritis10.3
9anatomical narrow angle borderline glaucoma10.2INS, INSR
10multiple mitochondrial dysfunctions syndrome10.2IGF1, INSR
11tracheal calcification10.2INS, INSR
12embryonal rhabdomyosarcoma10.1
13spinal muscular atrophy type 1 with congenital bone fractures10.1IGF1, IGFBP3
14breast large cell neuroendocrine carcinoma10.1IGF1, IGFBP3
15cetp-related hyperalphalipoproteinemia10.1IGF1, IGFBP3
16thbd-related atypical hemolytic-uremic syndrome10.1IGF1, INS
17rete ovarii cystadenofibroma10.1IGF1, IGFBP3
18growth hormone insensitivity, partial10.1IGF1, IGFBP3
19kartagener syndrome10.1IGF1, INS
20splenic artery aneurysm10.1IGF1, INS
21fallopian tube clear cell adenocarcinoma10.1IGF1, INS
22pleural empyema10.1IGF1, INS
23patellofemoral pain syndrome10.1IGF1, INS
24diabetes insipidus10.1IGF1, INS
25dental pulp necrosis10.1IGF1, INS
26hidradenitis10.1IGF1, INS
27growth retardation hydrocephaly lung hypoplasia10.1IGF1, IGFBP3
28opportunistic mycosis10.1IGF1, INS
29laryngeal carcinoma10.1IGF1, INS
30central nervous system hemangioma10.1IGF1, INS
31diencephalic neoplasm10.1IGF1, INS
32albinism, oculocutaneous, type ia10.0IGF1, IGFBP3
33diabetic encephalopathy10.0IGF1, INS
34male reproductive organ benign neoplasm10.0IGF1, INS
35congenital hypomyelination neuropathy10.0IGF1, IGFBP3
36cerebellar vermis medulloblastoma10.0IGF1, IGFBP3
37short bowel syndrome10.0IGF1, INS
38septicemic plague10.0IGF1, IGFBP3
39periampullary adenoma10.0IGF1, INS
40secondary syphilis10.0IGF1R, INSR
41alveoli adenoma10.0IGF1, INS
42large cell carcinoma with rhabdoid phenotype10.0
43pseudopterygium9.9IGF1, INS
44primary optic atrophy9.9IGF1R, IGFBP3
45angiomatous meningioma9.9IGF1, INS
46multifocal osteogenic sarcoma9.9IGF1R, IGFBP3
47dysostosis9.9IGF1, IGFBP3
48aromatic l-amino acid decarboxylase deficiency9.9IGF1, IGFBP3
49femoral neuropathy9.9IGF1, INS
50systemic lupus erythematosus9.8

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:

 52 (show all 25)
  • long penis
  • proteinuria
  • polycystic ovaries
  • abnormality of the teeth
  • coarse facial features
  • mandibular prognathia
  • diabetes mellitus
  • abnormality of the thyroid gland
  • precocious puberty
  • growth hormone excess
  • acanthosis nigricans
  • dry skin
  • thickened skin
  • brachydactyly syndrome
  • intrauterine growth retardation
  • thick nail
  • coarse hair
  • generalized hirsutism
  • abnormality of the abdominal wall
  • short stature
  • advanced eruption of teeth
  • prematurely aged appearance
  • peripheral neuropathy
  • female pseudohermaphroditism
  • abnormality of the upper urinary tract

HPO human phenotypes related to Rabson-Mendenhall Syndrome:

(show all 43)
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 long penis HP:0000040
25 clitoral hypertrophy HP:0000057
26 high palate HP:0000218
27 coarse facial features HP:0000280
28 mandibular prognathia HP:0000303
29 precocious puberty HP:0000826
30 insulin-resistant diabetes mellitus HP:0000831
31 hyperinsulinemia HP:0000842
32 acanthosis nigricans HP:0000956
33 dry skin HP:0000958
34 hypertrichosis HP:0000998
35 global developmental delay HP:0001263
36 small for gestational age HP:0001518
37 hypoglycemia HP:0001943
38 diabetic ketoacidosis HP:0001953
39 hyperglycemia HP:0003074
40 fasting hypoglycemia HP:0003162
41 short stature HP:0004322
42 advanced eruption of teeth HP:0006288
43 onychauxis HP:0012542

UMLS symptoms related to Rabson-Mendenhall Syndrome:


dry skin

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
1insulinPhase 24401
2
ZincPhase 221547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+

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 and Diabetes Mellitus Syndrome25
2 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities23 INSR

Anatomical Context for Rabson-Mendenhall Syndrome

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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

34
Pineal, Skin, 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5IGF1R, IGFBP3, INS, INSR
2MP:00107718.3IGF1, IGF1R, IGFBP3, INS
3MP:00053697.7IGF1, IGF1R, IGFBP3, INS, INSR
4MP:00053757.6IGF1, IGF1R, IGFBP3, INS, INSR
5MP:00053797.5IGF1, IGF1R, IGFBP3, INS, INSR
6MP:00053787.5IGF1, IGF1R, IGFBP3, INS, INSR

Publications for Rabson-Mendenhall Syndrome

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Articles related to Rabson-Mendenhall Syndrome:

(show all 31)
idTitleAuthorsYear
1
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. (27112737)
2016
2
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. (27326825)
2016
3
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. (26691667)
2016
4
Rabson-mendenhall syndrome. (25484423)
2014
5
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. (23497647)
2013
6
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. (23347304)
2013
7
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
8
Rabson-Mendenhall syndrome. (23263437)
2012
9
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
10
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. (21869538)
2011
11
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. (20155514)
2010
12
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. (20711714)
2010
13
Long survival in Rabson-Mendenhall syndrome. (20627358)
2010
14
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
15
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. (18405695)
2008
16
Rabson-Mendenhall syndrome. (18717867)
2008
17
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. (17849153)
2007
18
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. (17201797)
2007
19
Rabson-Mendenhall syndrome. (15738613)
2005
20
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. (15070911)
2004
21
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. (15232309)
2004
22
What syndrome is this? Rabson-Mendenhall syndrome. (12047650)
2002
23
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. (11757582)
2001
24
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. (15016231)
2000
25
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. (10443650)
1999
26
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
27
Rabson-Mendenhall syndrome]. (7983791)
1994
28
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. (8077364)
1994
29
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
30
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
31
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:

68
id Symbol AA change Variation ID SNP ID
1INSRp.Asn42LysVAR_004079rs121913143
2INSRp.His236ArgVAR_004084rs121913145
3INSRp.Ser350LeuVAR_015914
4INSRp.Pro997ThrVAR_015921
5INSRp.Ile1143ThrVAR_015926
6INSRp.Arg1158TrpVAR_015928
7INSRp.Arg1201TrpVAR_015930
8INSRp.Gly386SerVAR_031520rs764221583

Clinvar genetic disease variations for Rabson-Mendenhall Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1INSRNM_000208.3(INSR): c.126C> A (p.Asn42Lys)single nucleotide variantPathogenicrs121913143GRCh37Chr 19, 7267882: 7267882
2INSRNM_000208.3(INSR): c.3079C> T (p.Arg1027Ter)single nucleotide variantPathogenicrs121913144GRCh37Chr 19, 7125473: 7125473
3INSRNM_000208.3(INSR): c.1124-2A> Gsingle nucleotide variantPathogenicrs587776819GRCh38Chr 19, 7172436: 7172436
4INSRNM_000208.3(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 39)
idSuper pathwaysScoreTop Affiliating Genes
19.5INS, INSR
29.5INS, INSR
39.5INS, INSR
49.5INS, INSR
59.5INS, INSR
69.5INS, INSR
7
Show member pathways
9.5INS, INSR
8
Show member pathways
9.5INS, INSR
99.3IGF1, INS
109.3IGF1, IGFBP3
119.2IGF1R, INSR
129.2IGF1R, INSR
139.0IGF1, IGF1R
149.0IGF1, IGF1R
159.0IGF1, IGF1R
169.0IGF1, IGF1R
17
Show member pathways
9.0IGF1, IGF1R
188.9IGF1, INS, INSR
198.8IGF1, IGFBP3, INS
20
Show member pathways
8.7IGF1R, INS, INSR
218.6IGF1, IGF1R, 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
30
Show member pathways
8.1IGF1, IGF1R, INS, INSR
31
Show member pathways
8.1IGF1, IGF1R, INS, INSR
328.1IGF1, IGF1R, INS, INSR
33
Show member pathways
8.1IGF1, IGF1R, INS, INSR
348.1IGF1, IGF1R, INS, INSR
35
Show member pathways
8.1IGF1, IGF1R, INS, INSR
368.1IGF1, IGF1R, INS, INSR
37
Show member pathways
8.1IGF1, IGF1R, INS, INSR
388.0IGF1, IGF1R, IGFBP3, INS
39
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 ternary complexGO:00425679.3IGF1, IGFBP3
2insulin-like growth factor binding protein complexGO:00169429.2IGF1, IGFBP3
3alphav-beta3 integrin-IGF-1-IGF1R complexGO:00358679.0IGF1, IGF1R

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of respiratory burstGO:006026710.1INS, INSR
2positive regulation of glycoprotein biosynthetic processGO:001056010.0IGF1, INSR
3positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.9IGF1, IGFBP3
4response to glucocorticoidGO:00513849.9IGF1, INSR
5positive regulation of protein kinase B signalingGO:00518979.9INS, INSR
6positive regulation of nitric oxide biosynthetic processGO:00454299.8INS, INSR
7positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.7IGF1, INS
8positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7IGF1, INS
9phosphatidylinositol 3-kinase signalingGO:00140659.6IGF1, IGF1R
10negative regulation of protein phosphorylationGO:00019339.6IGFBP3, INSR
11peptidyl-tyrosine autophosphorylationGO:00380839.5IGF1R, INSR
12insulin-like growth factor receptor signaling pathwayGO:00480099.5IGF1, IGF1R
13positive regulation of glycolytic processGO:00458219.5IGF1, INS, INSR
14positive regulation of glycogen biosynthetic processGO:00457259.5IGF1, INS, INSR
15activation of protein kinase B activityGO:00321489.5IGF1, INS, INSR
16response to activityGO:00148239.4IGF1, INSR
17positive regulation of glucose importGO:00463269.4IGF1, INS, INSR
18cellular response to insulin stimulusGO:00328699.3IGF1, INSR
19insulin receptor signaling pathwayGO:00082869.3IGF1R, INS, INSR
20cellular protein metabolic processGO:00442679.1IGF1, IGFBP3, INS
21positive regulation of MAPK cascadeGO:00434108.6IGF1, IGFBP3, INS, INSR
22positive regulation of mitotic nuclear divisionGO:00458408.6IGF1, INS, INSR
23positive regulation of DNA replicationGO:00457408.4IGF1, IGF1R, INS, INSR
24positive regulation of cell migrationGO:00303358.1IGF1, IGF1R, INS, INSR
25positive regulation of cell proliferationGO:00082848.1IGF1, IGF1R, 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:003199510.0IGFBP3, INSR
2insulin receptor substrate bindingGO:00435609.6IGF1R, INSR
3hormone activityGO:00051799.6IGF1, INS
4insulin bindingGO:00435599.6IGF1R, INSR
5phosphatidylinositol 3-kinase bindingGO:00435489.4IGF1R, INSR
6insulin-like growth factor bindingGO:00055209.4IGF1R, IGFBP3
7insulin-like growth factor receptor bindingGO:00051599.3IGF1, INS, INSR
8insulin-like growth factor I bindingGO:00319949.2IGF1R, IGFBP3, INSR
9insulin receptor bindingGO:00051588.5IGF1, IGF1R, INS

Sources for Rabson-Mendenhall Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet