MCID: RBS003
MIFTS: 51

Rabson-Mendenhall Syndrome malady

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

Aliases & Classifications for Rabson-Mendenhall Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rabson-Mendenhall Syndrome:

Name: Rabson-Mendenhall Syndrome 49 11 45 22 23 47 51 67 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
rabson-mendenhall syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



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 acromegaly and rhabdomyosarcoma, and has symptoms including female pseudohermaphroditism, advanced eruption of teeth and congenital, generalized hypertrichosis. An important gene associated with Rabson-Mendenhall Syndrome is INSR (Insulin Receptor), and among its related pathways are Transcription_Transcription factor Tubby signaling pathways and AGE/RAGE pathway. Affiliated tissues include skin, pineal and liver, and related mouse phenotypes are endocrine/exocrine gland and muscle.

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.

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.

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 83)
idRelated DiseaseScoreTop Affiliating Genes
1acromegaly30.1IGF1, IGFBP3
2rhabdomyosarcoma10.8
3melanoma10.6
4colorectal cancer10.5
5lung cancer10.5
6breast cancer10.5
7hepatitis c virus10.5
8osteoporosis10.5
9pityriasis rubra pilaris10.5
10stargardt disease10.5
11arthritis10.5
12hepatitis10.5
13hydrocephalus10.5
14leukemia10.5
15chlamydia10.5
16retinal vasculitis10.5
17nephrosclerosis10.5
18lymphogranuloma venereum10.5
19adult-onset still's disease10.5
20hypothyroidism10.5
21normal pressure hydrocephalus10.5
22lymphadenitis10.5
23hepatitis c10.5
24kidney cancer10.5
25hairy cell leukemia10.5
26keratoacanthoma10.5
27retinitis10.5
28aortitis10.5
29prion disease10.5
30thyroiditis10.5
31neuronitis10.5
32vasculitis10.5
33genetic prion diseases10.5
34growth hormone deficiency10.5
35pituitary tumors10.5
36large cell carcinoma with rhabdoid phenotype10.3
37systemic mastocytosis10.3
38mastocytosis10.3
39encephalopathy10.3
40lymphangioleiomyomatosis10.2
41ulcerative colitis10.2
42tuberous sclerosis10.2
43tenosynovial giant cell tumor10.0INS, INSR
44chronic follicular conjunctivitis10.0INS, INSR
45progeria-associated arthropathy9.9IGF1, IGFBP3
46cetp-related hyperalphalipoproteinemia9.9IGF1, IGFBP3
47childhood central nervous system immature teratoma9.9IGF1, IGFBP3
48vagus nerve disease9.9IGF1, IGFBP3
49growth hormone insensitivity, partial9.9IGF1, IGFBP3
50fatal infantile encephalomyopathy9.9IGF1, INSR

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

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 24278
2Insulin, Globin ZincPhase 24278
3Hypoglycemic AgentsPhase 24503

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

Anatomical Context for Rabson-Mendenhall Syndrome

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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

33
Skin, Pineal, Liver, Pancreas, Thyroid, Ovary, B cells

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:00053798.1IGF1, IGFBP3, INS, INSR
2MP:00053698.0IGF1, IGFBP3, INS, INSR
3MP:00053757.7IGF1, IGFBP3, INS, INSR

Publications for Rabson-Mendenhall Syndrome

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Articles related to Rabson-Mendenhall Syndrome:

(show all 28)
idTitleAuthorsYear
1
Detection of hypertensive retinopathy using vessel measurements and textural features. (25571216)
2014
2
Perceived parental acceptance/rejection, some family characteristics and conduct disorder in adolescents. (25518274)
2014
3
Crosstalk between Nrf2 and the proteasome: therapeutic potential of Nrf2 inducers in vascular disease and aging. (22575091)
2012
4
Heredity factor in myopia development among a sample in Klang Valley, Malaysia. (23044317)
2012
5
Mesenchymal stem cells overexpressing GCP-2 improve heart function through enhanced angiogenic properties in a myocardial infarction model. (22886775)
2012
6
Ectopic expression of H2AX protein promotes TrkA-induced cell death via modulation of TrkA tyrosine-490 phosphorylation and JNK activity upon DNA damage. (21184737)
2011
7
The role of transferrin in actinide(IV) uptake: comparison with iron(III). (19950335)
2010
8
Lin-28B expression promotes transformation and invasion in human hepatocellular carcinoma. (20525879)
2010
9
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. (19658058)
2010
10
Effects of Ile164 polymorphism of beta2-adrenergic receptor gene on coronary artery disease. (18940527)
2008
11
Detailed state model of CaMKII activation and autophosphorylation. (18769913)
2008
12
Transvaginal ultrasound for diagnosis of adenomyosis: a review. (16545618)
2006
13
Coccidioidomycosis. (16984872)
2006
14
Perils of the prozone reaction: neurosyphilis presenting as an RPR-negative subacute dementia. (16534131)
2006
15
Glucocorticoid enhances the expression of dickkopf-1 in human osteoblasts: novel mechanism of glucocorticoid-induced osteoporosis. (15110782)
2004
16
Cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. (15365561)
2004
17
Recombinant tissue plasminogen activator (alteplase) for restoration of function to occluded central venous catheters in pediatric patients. (12544772)
2003
18
Development of a quantitative lateral-flow assay for rapid detection of fatty acid-binding protein. (12969550)
2003
19
Molecular cloning, genomic structure and interactions of the putative breast tumor suppressor TACC2. (12620397)
2003
20
Anomalous overexpression of p27(Kip1) in sporadic pancreatic endocrine tumors. (11266285)
2001
21
Frontonasal dysplasia with corpus callosum lipoma. (10717702)
1999
22
CNS involvement in primary mediastinal large B-cell lymphoma. (10561312)
1999
23
Glucocorticoid control of glial gene expression. (10453053)
1999
24
Tension hemopericardium complicating neonatal pneumopericardium. (8442801)
1993
25
Molecular analysis of the Coprinus cinereus mating type A factor demonstrates an unexpectedly complex structure. (1678725)
1991
26
Cystinosis. (2662304)
1989
27
Mucinous biliary papillomatosis: a tumour in need of wider recognition. (2466755)
1988
28
Psychosomatic equivalents of endogenous depression. (14450667)
1961

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_000208.3(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 26)
idSuper pathwaysScoreTop Affiliating Genes
19.3INS, INSR
29.3INS, INSR
39.3INS, INSR
49.3INS, INSR
59.3INS, INSR
69.3INS, INSR
7
Show member pathways
9.3INS, INSR
8
Show member pathways
9.3INS, INSR
9
Show member pathways
9.3INS, INSR
10
Show member pathways
9.1IGF1, IGFBP3
119.1IGF1, IGFBP3
129.0IGF1, INS
139.0IGF1, INS
149.0IGF1, INS
15
Show member pathways
8.5IGF1, INS, INSR
16
Show member pathways
8.5IGF1, INS, INSR
178.5IGF1, INS, INSR
188.5IGF1, INS, INSR
198.5IGF1, INS, INSR
208.5IGF1, INS, INSR
21
Show member pathways
8.5IGF1, INS, INSR
22
Show member pathways
8.5IGF1, INS, INSR
23
Show member pathways
8.5IGF1, INS, INSR
248.5IGF1, IGFBP3, INS
258.5IGF1, IGFBP3, INS
26
Show member pathways
8.0IGF1, IGFBP3, INS, INSR

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1activation of protein kinase B activityGO:00321489.8INS, INSR
2response to nutrient levelsGO:00316679.6IGF1, INSR
3positive regulation of glycogen biosynthetic processGO:00457259.6IGF1, INS
4response to glucocorticoidGO:00513849.5IGF1, INSR
5cellular response to insulin stimulusGO:00328699.4IGF1, INSR
6positive regulation of glycoprotein biosynthetic processGO:00105609.4IGF1, INSR
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3IGF1, INS
8positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.3IGF1, INS
9positive regulation of cell growthGO:00303079.2IGF1, INS
10positive regulation of cell migrationGO:00303359.1IGF1, INS
11positive regulation of glycolytic processGO:00458219.1IGF1, INS, INSR
12positive regulation of DNA replicationGO:00457409.1IGF1, INS
13response to activityGO:00148238.8IGF1, INSR
14cellular protein metabolic processGO:00442678.5IGF1, IGFBP3, INS
15positive regulation of MAPK cascadeGO:00434108.3IGF1, IGFBP3, INS, INSR

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