MCID: INS033
MIFTS: 11

Insr-Related Severe Syndromic Insulin Resistance

Aliases & Classifications for Insr-Related Severe Syndromic Insulin Resistance

MalaCards integrated aliases for Insr-Related Severe Syndromic Insulin Resistance:

Name: Insr-Related Severe Syndromic Insulin Resistance 24

Summaries for Insr-Related Severe Syndromic Insulin Resistance

MalaCards based summary : Insr-Related Severe Syndromic Insulin Resistance is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and donohue syndrome. An important gene associated with Insr-Related Severe Syndromic Insulin Resistance is INSR (Insulin Receptor). Affiliated tissues include ovary and kidney.

GeneReviews: NBK476444

Related Diseases for Insr-Related Severe Syndromic Insulin Resistance

Diseases related to Insr-Related Severe Syndromic Insulin Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 12.5
2 donohue syndrome 10.2
3 diabetes mellitus, ketosis-prone 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 glucose intolerance 10.2
6 hyperandrogenism 10.2
7 gestational diabetes 10.2
8 nephrocalcinosis 10.2
9 hypothyroidism 10.2
10 hyperinsulinism 10.2
11 hyperglycemia 10.2
12 hypoglycemia 10.2
13 fasting hypoglycemia 10.2
14 hypotonia 10.2

Graphical network of the top 20 diseases related to Insr-Related Severe Syndromic Insulin Resistance:



Diseases related to Insr-Related Severe Syndromic Insulin Resistance

Symptoms & Phenotypes for Insr-Related Severe Syndromic Insulin Resistance

Drugs & Therapeutics for Insr-Related Severe Syndromic Insulin Resistance

Search Clinical Trials , NIH Clinical Center for Insr-Related Severe Syndromic Insulin Resistance

Genetic Tests for Insr-Related Severe Syndromic Insulin Resistance

Anatomical Context for Insr-Related Severe Syndromic Insulin Resistance

MalaCards organs/tissues related to Insr-Related Severe Syndromic Insulin Resistance:

41
Ovary, Kidney

Publications for Insr-Related Severe Syndromic Insulin Resistance

Articles related to Insr-Related Severe Syndromic Insulin Resistance:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations. 4
28093873 2017
2
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. 4
27112737 2017
3
Type B Insulin Resistance Masquerading as Ovarian Hyperthecosis. 4
27911591 2017
4
Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation. 4
26262567 2016
5
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. 4
26874853 2016
6
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 4
26691667 2016
7
Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism. 4
25465274 2015
8
Successful pregnancy outcomes in a patient with type A insulin resistance syndrome. 4
25472847 2015
9
Leptin treatment: facts and expectations. 4
25156686 2015
10
Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells. 4
25059784 2014
11
Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome. 4
25153212 2014
12
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. 4
25358339 2014
13
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 4
27896077 2014
14
Two novel mutations identified in familial cases with Donohue syndrome. 4
24498630 2014
15
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? 4
23824322 2013
16
Metreleptin improves blood glucose in patients with insulin receptor mutations. 4
23969187 2013
17
Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. 4
23229189 2013
18
Development of endometrial carcinoma in a patient with leprechaunism (donohue syndrome). 4
23990696 2013
19
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. 4
23497647 2013
20
Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. 4
22972224 2013
21
A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia. 4
22824672 2012
22
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 4
22563226 2012
23
"Donohue syndrome". 4
22399506 2012
24
IGF1R mutations as cause of SGA. 4
21396585 2011
25
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. 4
21869538 2011
26
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. 4
20711714 2010
27
What is the best management strategy for patients with severe insulin resistance? 4
20455892 2010
28
Long survival in Rabson-Mendenhall syndrome. 4
20627358 2010
29
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. 4
20155514 2010
30
Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. 4
19164855 2009
31
Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance. 4
18299442 2008
32
IGF-I treatment of insulin resistance. 4
17785698 2007
33
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 4
17201797 2007
34
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. 4
16941719 2006
35
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure. 4
15772126 2005
36
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. 4
15232309 2004
37
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. 4
15070911 2004
38
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 4
12970295 2003
39
Genotype-phenotype correlation in inherited severe insulin resistance. 4
12023989 2002
40
Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors. 4
11443207 2001
41
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 4
10443650 1999
42
Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism. 4
9467572 1998
43
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. 4
9249867 1997
44
A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism. 4
9112018 1997
45
Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. 4
7534902 1994
46
Homozygous deletion of the human insulin receptor gene results in leprechaunism. 4
7693131 1993
47
Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report. 4
8247952 1993
48
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. 4
8326490 1993
49
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans. 4
1588128 1992
50
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance. 4
1767731 1991

Variations for Insr-Related Severe Syndromic Insulin Resistance

Expression for Insr-Related Severe Syndromic Insulin Resistance

Search GEO for disease gene expression data for Insr-Related Severe Syndromic Insulin Resistance.

Pathways for Insr-Related Severe Syndromic Insulin Resistance

GO Terms for Insr-Related Severe Syndromic Insulin Resistance

Sources for Insr-Related Severe Syndromic Insulin Resistance

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64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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