MCID: RBS003
MIFTS: 57

Rabson-Mendenhall Syndrome

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

Aliases & Classifications for Rabson-Mendenhall Syndrome

MalaCards integrated aliases for Rabson-Mendenhall Syndrome:

Name: Rabson-Mendenhall Syndrome 54 50 24 25 56 71 13 52 69
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 50 24 25
Mendenhall Syndrome 50 25 71
Pineal Hyperplasia and Diabetes Mellitus Syndrome 25 29
Rms 25 71

Characteristics:

Orphanet epidemiological data:

56
rabson-mendenhall syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset of acanthosis nigricans correlates with onset of diabetes
survival to 5-15 years of age
allelic to leprechaunism and insulin-resistant diabetes mellitus with acanthosis nigricans


HPO:

32
rabson-mendenhall syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rabson-Mendenhall Syndrome

NIH Rare Diseases : 50 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-resistance type b, and has symptoms including short stature, proteinuria and coarse facial features. An important gene associated with Rabson-Mendenhall Syndrome is INSR (Insulin Receptor), and among its related pathways/superpathways are TGF-Beta Pathway and p70S6K Signaling. The drugs Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include pineal, skin and pancreas, and related phenotypes are Decreased substrate adherent cell growth and adipose tissue

UniProtKB/Swiss-Prot : 71 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 : 25 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: 262190

Related Diseases for Rabson-Mendenhall Syndrome

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

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 11.6
2 insulin-resistance type b 11.2
3 intellectual deficit buenos-aires type 10.3 INS INSR
4 medullary sponge kidney 10.3
5 insulin-like growth factor i 10.3
6 diabetic cataract 10.2 INS INSR
7 febrile infection-related epilepsy syndrome 10.2 IGF1 INSR
8 small cell lung cancer, childhood 10.2 IGF1 IGFBP3
9 lipase deficiency, combined 10.2 IGF1 IGFBP3
10 pulmonary large cell neuroendocrine carcinoma 10.2 IGF1 IGFBP3
11 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.1 IGF1 IGFBP3
12 cerebritis 10.1
13 hepatitis 10.1
14 ulcerative blepharitis 10.1 IGF1 INS
15 growth hormone insensitivity, partial 10.1 IGF1 IGFBP3
16 pituitary adenoma, prolactin-secreting 10.1 IGF1 IGFBP3
17 tinf2-related dyskeratosis congenita 10.1 IGF1 INS
18 phacolytic glaucoma 10.1 IGF1 IGFBP3
19 algoneurodystrophy 10.1 IGF1 INS
20 neurogenic arthropathy 10.1 IGF1 INS
21 chondroma 10.1 IGF1 INS
22 porokeratosis 10.1 IGF1 INS
23 fibrolamellar carcinoma 10.1 IGF1 INS
24 caffey disease 10.1 IGF1 IGFBP3
25 uterine ligament clear cell adenocarcinoma 10.1 IGF1 INS
26 capillary lymphangioma 10.1 IGF1 INS
27 adamantinous craniopharyngioma 10.1 IGF1 INS
28 vernal conjunctivitis 10.1 IGF1 INS
29 grubben de cock borghgraef syndrome 10.0 IGF1 IGFBP3
30 male reproductive organ benign neoplasm 10.0 IGF1 INS
31 congenital hypomyelination neuropathy 10.0 IGF1 IGFBP3
32 albinism, oculocutaneous, type ia 10.0 IGF1 IGFBP3
33 embryonal rhabdomyosarcoma 10.0
34 medullomyoblastoma 10.0 IGF1 IGFBP3
35 diabetic encephalopathy 10.0 IGF1 INS
36 periampullary adenoma 10.0 IGF1 INS
37 citrullinemia, adult-onset type ii 10.0 IGF1 INS
38 differentiating neuroblastoma 10.0 IGF1R INSR
39 bile duct signet ring cell carcinoma 10.0 IGF1 IGFBP3
40 inherited metabolic disorder 10.0 IGF1 INS
41 primary optic atrophy 9.9 IGF1R IGFBP3
42 plague 9.9 IGF1 IGFBP3
43 pediatric osteosarcoma 9.9 IGF1R IGFBP3
44 hypertrichosis 9.9 IGF1 INS
45 bardet-biedl syndrome 9.9 IGF1 IGFBP3
46 aromatic l-amino acid decarboxylase deficiency 9.8 IGF1 IGFBP3
47 survival motor neuron spinal muscular atrophy 9.8 IGF1 INS
48 hyperchylomicronemia, late-onset 9.8 INS INSR
49 botryoid rhabdomyosarcoma 9.7
50 lupus erythematosus 9.7

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



Diseases related to Rabson-Mendenhall Syndrome

Symptoms & Phenotypes for Rabson-Mendenhall Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Face:
coarse facies
prognathism

Neurologic- Central Nervous System:
developmental delay
pineal hypertrophy

Genitourinary- External Genitalia Female:
clitoromegaly

Growth- Weight:
weight less than 5th percentile

Endocrine Features:
precocious puberty
insulin resistant diabetes mellitus
diabetic ketoacidosis
altered melatonin secretion

Head And Neck- Teeth:
premature eruption of teeth
dental dysplasia

Head And Neck- Mouth:
high-arched palate
large, fissured tongue
gingival hypoplasia

Skin Nails & Hair- Hair:
hypertrichosis

Laboratory- Abnormalities:
hyperinsulinemia
postprandial hyperglycemia (early in disease course)
fasting hypoglycemia (early in disease course)

Skin Nails & Hair- Skin:
dry skin
acanthosis nigricans
lichenified skin

Growth- Other:
small for gestational age

Genitourinary- External Genitalia Male:
large penis

Skin Nails & Hair- Nails:
onychauxis


Clinical features from OMIM:

262190

Human phenotypes related to Rabson-Mendenhall Syndrome:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
3 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 peripheral neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0009830
5 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
6 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
7 coarse hair 56 32 frequent (33%) Frequent (79-30%) HP:0002208
8 diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000819
9 acanthosis nigricans 56 32 hallmark (90%) Very frequent (99-80%) HP:0000956
10 polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0000147
11 precocious puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000826
12 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
13 mandibular prognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000303
14 abnormality of the upper urinary tract 56 32 occasional (7.5%) Occasional (29-5%) HP:0010935
15 prematurely aged appearance 56 32 frequent (33%) Frequent (79-30%) HP:0007495
16 growth hormone excess 56 32 hallmark (90%) Very frequent (99-80%) HP:0000845
17 long penis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000040
18 female pseudohermaphroditism 56 32 hallmark (90%) Very frequent (99-80%) HP:0010458
19 abnormality of the thyroid gland 56 32 frequent (33%) Frequent (79-30%) HP:0000820
20 advanced eruption of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006288
21 thick nail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001805
22 abnormality of the abdominal wall 56 32 hallmark (90%) Very frequent (99-80%) HP:0004298
23 brachydactyly 32 frequent (33%) HP:0001156
24 hypertrichosis 32 HP:0000998
25 insulin-resistant diabetes mellitus 32 HP:0000831
26 hyperglycemia 32 HP:0003074
27 hyperinsulinemia 32 HP:0000842
28 global developmental delay 32 HP:0001263
29 hypoglycemia 32 HP:0001943
30 high palate 32 HP:0000218
31 small for gestational age 32 HP:0001518
32 clitoral hypertrophy 32 HP:0008665
33 fasting hypoglycemia 32 HP:0003162
34 thickened skin 56 Frequent (79-30%)
35 postprandial hyperglycemia 32 HP:0011998
36 onychauxis 32 HP:0012542
37 diabetic ketoacidosis 32 HP:0001953
38 abnormality of the teeth 56 Very frequent (99-80%)
39 brachydactyly syndrome 56 Frequent (79-30%)

UMLS symptoms related to Rabson-Mendenhall Syndrome:


dry skin

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 8.92 IGF1R
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 INSR
3 Decreased substrate adherent cell growth GR00193-A-4 8.92 IGF1R INSR

MGI Mouse Phenotypes related to Rabson-Mendenhall Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.85 IGF1 IGF1R IGFBP3 INS INSR
2 endocrine/exocrine gland MP:0005379 9.8 IGF1 IGF1R IGFBP3 INS INSR
3 growth/size/body region MP:0005378 9.77 IGF1 IGF1R IGFBP3 INS INSR
4 cardiovascular system MP:0005385 9.73 IGF1 IGF1R INS INSR
5 integument MP:0010771 9.62 IGF1 IGF1R IGFBP3 INS
6 liver/biliary system MP:0005370 9.56 INSR IGF1R IGFBP3 INS
7 muscle MP:0005369 9.55 IGF1 IGF1R IGFBP3 INS INSR
8 renal/urinary system MP:0005367 9.13 IGF1 INS INSR
9 respiratory system MP:0005388 8.8 IGF1 IGF1R INSR

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 2 7440-66-6 32051 23994
2 insulin Phase 2
3 Hypoglycemic Agents Phase 2
4 Insulin, Globin Zinc Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Leptin to Treat Severe Insulin Resistance - Pilot Study Completed NCT00027456 Phase 2 Leptin A-100
2 Effect of Leptin Therapy in the Treatment of Severe Insulin Resistance Recruiting NCT00085982 Phase 2 Metreleptin

Search NIH Clinical Center for Rabson-Mendenhall Syndrome

Genetic Tests for Rabson-Mendenhall Syndrome

Genetic tests related to Rabson-Mendenhall Syndrome:

id Genetic test Affiliating Genes
1 Pineal Hyperplasia and Diabetes Mellitus Syndrome 29
2 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 24 INSR

Anatomical Context for Rabson-Mendenhall Syndrome

MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

39
Pineal, Skin, Pancreas, Liver, Thyroid, Ovary, Tongue

Publications for Rabson-Mendenhall Syndrome

Articles related to Rabson-Mendenhall Syndrome:

(show all 32)
id Title Authors Year
1
Rabson Mendenhall Syndrome caused by a novel missense mutation. ( 27891155 )
2016
2
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. ( 27112737 )
2016
3
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. ( 27326825 )
2016
4
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. ( 26691667 )
2016
5
Rabson-mendenhall syndrome. ( 25484423 )
2014
6
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. ( 23347304 )
2013
7
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. ( 23497647 )
2013
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
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
11
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. ( 21869538 )
2011
12
Long survival in Rabson-Mendenhall syndrome. ( 20627358 )
2010
13
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. ( 20711714 )
2010
14
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. ( 20155514 )
2010
15
Rabson-Mendenhall syndrome. ( 18717867 )
2008
16
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
17
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. ( 18405695 )
2008
18
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. ( 17849153 )
2007
19
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. ( 17201797 )
2007
20
Rabson-Mendenhall syndrome. ( 15738613 )
2005
21
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. ( 15070911 )
2004
22
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. ( 15232309 )
2004
23
What syndrome is this? Rabson-Mendenhall syndrome. ( 12047650 )
2002
24
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. ( 11757582 )
2001
25
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. ( 15016231 )
2000
26
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. ( 10443650 )
1999
27
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
28
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. ( 8077364 )
1994
29
[Rabson-Mendenhall syndrome]. ( 7983791 )
1994
30
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
31
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
32
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

UniProtKB/Swiss-Prot genetic disease variations for Rabson-Mendenhall Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 INSR p.Asn42Lys VAR_004079 rs121913143
2 INSR p.His236Arg VAR_004084 rs121913145
3 INSR p.Ser350Leu VAR_015914
4 INSR p.Pro997Thr VAR_015921
5 INSR p.Ile1143Thr VAR_015926
6 INSR p.Arg1158Trp VAR_015928 rs111993466
7 INSR p.Arg1201Trp VAR_015930
8 INSR p.Gly386Ser VAR_031520 rs764221583

ClinVar genetic disease variations for Rabson-Mendenhall Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 INSR NM_000208.3(INSR): c.126C> A (p.Asn42Lys) single nucleotide variant Pathogenic rs121913143 GRCh37 Chromosome 19, 7267882: 7267882
2 INSR NM_000208.3(INSR): c.3079C> T (p.Arg1027Ter) single nucleotide variant Pathogenic rs121913144 GRCh37 Chromosome 19, 7125473: 7125473
3 INSR NM_000208.3(INSR): c.1124-2A> G single nucleotide variant Pathogenic rs587776819 GRCh38 Chromosome 19, 7172436: 7172436
4 INSR NM_000208.3(INSR): c.2480_2487delAGGACACC (p.Gln827Profs) deletion Pathogenic rs587776820 GRCh38 Chromosome 19, 7142871: 7142878
5 INSR NM_000208.3(INSR): c.394G> A (p.Gly132Ser) single nucleotide variant Pathogenic rs886037750 GRCh37 Chromosome 19, 7267614: 7267614

Expression for Rabson-Mendenhall Syndrome

Search GEO for disease gene expression data for Rabson-Mendenhall Syndrome.

Pathways for Rabson-Mendenhall Syndrome

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

(show all 40)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 IGF1 IGF1R INS INSR
2
Show member pathways
12.74 IGF1 IGF1R INS INSR
3
Show member pathways
12.59 IGF1 IGF1R INSR
4
Show member pathways
12.54 IGF1 IGF1R IGFBP3 INS INSR
5
Show member pathways
12.44 IGF1 IGF1R INS INSR
6 12.37 IGF1 IGF1R INS INSR
7
Show member pathways
12.27 IGF1R INS INSR
8 12.25 IGF1R IGFBP3 INS INSR
9
Show member pathways
12.23 IGF1 IGF1R INS INSR
10
Show member pathways
12.15 IGF1 IGF1R IGFBP3
11
Show member pathways
12.15 IGF1 IGF1R INS INSR
12
Show member pathways
12.1 IGF1 IGF1R INS
13
Show member pathways
12.07 IGF1 IGF1R INSR
14 11.98 IGF1 IGF1R IGFBP3
15
Show member pathways
11.8 IGF1 IGF1R INS INSR
16
Show member pathways
11.79 IGF1R INS INSR
17
Show member pathways
11.7 IGF1 IGF1R INS INSR
18 11.67 IGF1 IGFBP3 INS
19
Show member pathways
11.66 INS INSR
20 11.53 IGF1R INSR
21 11.49 INS INSR
22 11.49 IGF1 IGF1R INSR
23 11.48 IGF1 IGF1R
24 11.48 IGF1 IGF1R IGFBP3 INS
25 11.45 IGF1 IGF1R
26 11.44 IGF1 IGF1R
27 11.39 INS INSR
28 11.37 IGF1 INS
29 11.35 INS INSR
30 11.32 IGF1 INS
31 11.29 IGF1R INSR
32 11.27 INS INSR
33
Show member pathways
11.25 INS INSR
34 11.25 IGF1 IGF1R INS INSR
35 11.15 IGF1 INS INSR
36 11.1 IGF1 IGF1R
37 11.07 INS INSR
38
Show member pathways
11.01 IGF1 IGF1R
39 10.9 IGF1 IGFBP3
40 10.62 IGF1 IGF1R INS INSR

GO Terms for Rabson-Mendenhall Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.16 IGF1 IGF1R
2 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
3 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 IGF1 IGF1R INS INSR
2 positive regulation of cell migration GO:0030335 9.73 IGF1 IGF1R INS INSR
3 cellular protein metabolic process GO:0044267 9.71 IGF1 IGFBP3 INS
4 insulin receptor signaling pathway GO:0008286 9.63 IGF1R INS INSR
5 positive regulation of protein kinase B signaling GO:0051897 9.59 INS INSR
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.58 IGF1 INS
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 IGF1 INS
8 positive regulation of glucose import GO:0046326 9.58 IGF1 INS INSR
9 peptidyl-tyrosine autophosphorylation GO:0038083 9.57 IGF1R INSR
10 positive regulation of nitric oxide biosynthetic process GO:0045429 9.56 INS INSR
11 phosphatidylinositol 3-kinase signaling GO:0014065 9.55 IGF1 IGF1R
12 activation of protein kinase B activity GO:0032148 9.54 IGF1 INS INSR
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.52 IGF1 IGF1R
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.51 IGF1 IGFBP3
15 positive regulation of mitotic nuclear division GO:0045840 9.5 IGF1 INS INSR
16 positive regulation of respiratory burst GO:0060267 9.48 INS INSR
17 positive regulation of glycolytic process GO:0045821 9.43 IGF1 INS INSR
18 positive regulation of glycogen biosynthetic process GO:0045725 9.33 IGF1 INS INSR
19 positive regulation of MAPK cascade GO:0043410 9.26 IGF1 IGFBP3 INS INSR
20 positive regulation of DNA replication GO:0045740 8.92 IGF1 IGF1R INS INSR

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 IGF1R INSR
2 insulin-like growth factor binding GO:0005520 9.43 IGF1R IGFBP3
3 phosphatidylinositol 3-kinase binding GO:0043548 9.4 IGF1R INSR
4 insulin receptor substrate binding GO:0043560 9.37 IGF1R INSR
5 insulin receptor binding GO:0005158 9.33 IGF1 IGF1R INS
6 insulin-like growth factor II binding GO:0031995 9.32 IGFBP3 INSR
7 insulin binding GO:0043559 9.26 IGF1R INSR
8 insulin-like growth factor receptor binding GO:0005159 9.13 IGF1 INS INSR
9 insulin-like growth factor I binding GO:0031994 8.8 IGF1R IGFBP3 INSR

Sources for Rabson-Mendenhall Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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