MCID: INS008
MIFTS: 55

Insulin-Like Growth Factor I Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases, Ear diseases, Mental diseases categories

Summaries for Insulin-Like Growth Factor I Deficiency

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a protein that in humans is encoded... more...

MalaCards: Insulin-Like Growth Factor I Deficiency, also known as igf1 deficiency, is related to breast cancer and acromegaly, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, short hand/brachydactyly and pectus excavatum. An important gene associated with Insulin-Like Growth Factor I Deficiency is IGF1R (insulin-like growth factor 1 receptor), and among its related pathways are Translation Insulin regulation of translation and Oocyte meiosis. The compounds ghrp and hexarelin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Description from OMIM:48 270450

Aliases & Classifications for Insulin-Like Growth Factor I Deficiency

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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 46Novoseek, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
growth delay due to insulin-like growth factor i resistance:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

insulin-like growth factor i deficiency 44 21 23 63
igf1 deficiency 44 46
growth retardation with sensorineural deafness and mental retardation 44
growth delay due to insulin-like growth factor i resistance 50
insulin-like growth factor i 48
resistance to igf-1 50


External Ids:

OMIM48 270450
ICD10 via Orphanet27 E34.3

Related Diseases for Insulin-Like Growth Factor I Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Insulin-Like Growth Factor I Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 252)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer32.0IGF1R, GHR
2acromegaly31.6IGF1, GHR
3prostate cancer31.6GHR, IGF1R, IGF1
4growth hormone deficiency31.6IGF1, GHR
5insulin resistance31.4IGF1, IGF1R, GHR
6polycystic ovary syndrome31.3IGF1, IGF1R
7lung cancer31.2IGF1R, IGF1
8osteosarcoma31.2GHR, IGF1R, IGF1
9osteoporosis31.2IGF1, GHR
10hypoglycemia31.1IGF1, GHR
11precocious puberty31.0GHR, IGF1
12anorexia nervosa31.0GHR, IGF1
13myeloma31.0IGF1R, IGF1
14type 2 diabetes mellitus30.9IGF1R, IGF1
15hyperandrogenism30.9IGF1R, IGF1
16type 1 diabetes mellitus30.9GHR, IGF1
17hyperglycemia30.9GHR, IGF1R, IGF1
18dwarfism30.9GHR, IGF1
19adenoma30.9GHR, IGF1R, IGF1
20rabson-mendenhall syndrome30.8IGF1
21turner syndrome30.8GHR, IGF1
22glucose intolerance30.8GHR, IGF1
23endometrial carcinoma30.8IGF1R, IGF1
24pituitary tumors30.8GHR, IGF1
25hyperthyroidism30.6GHR, IGF1
26laron syndrome30.5GHR, IGF1
27insulin-like growth factor 1 resistance to30.5IGF1R, IGF1
28hypopituitarism30.4IGF1, GHR
29hyperinsulinism30.4IGF1, GHR
30proliferative diabetic retinopathy30.4GHR, IGF1
31uremia30.4GHR, IGF1
32pituitary adenoma30.4GHR, IGF1
33short stature30.0IGF1, IGF1R, GHR
34prostatitis11.2
35diabetes mellitus11.1
36obesity11.0
37pancreatitis11.0
38endotheliitis11.0
39neuronitis10.9
40hepatitis10.9
41neuroblastoma10.9
42colorectal cancer10.9
43thyroiditis10.9
44pancreatic cancer10.9
45colon cancer10.8
46hypertension10.8
47ovarian cancer10.8
48leiomyoma10.8
49liver cirrhosis10.8
50hypoxia10.8

Graphical network of the top 20 diseases related to Insulin-Like Growth Factor I Deficiency:



Diseases related to insulin-like growth factor i deficiency

Symptoms for Insulin-Like Growth Factor I Deficiency

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

270450

Clinical features from OMIM:

270450

Symptoms:

50 (show all 14)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short hand/brachydactyly
  • pectus excavatum
  • abnormally placed nipples
  • philtrum flat/large/featureless/absent cupidon bows
  • everted lower lip
  • thin/retracted lips
  • broad nasal root
  • microcephaly
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • chromosomal or genetic anomaly

Drugs & Therapeutics for Insulin-Like Growth Factor I Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Insulin-Like Growth Factor I Deficiency

Drug clinical trials:

Search ClinicalTrials for Insulin-Like Growth Factor I Deficiency

Search NIH Clinical Center for Insulin-Like Growth Factor I Deficiency

Search CenterWatch for Insulin-Like Growth Factor I Deficiency

Genetic Tests for Insulin-Like Growth Factor I Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Insulin-Like Growth Factor I Deficiency:

id Genetic test Affiliating Genes
1 Insulin-Like Growth Factor I Deficiency21 23 IGF1

Anatomical Context for Insulin-Like Growth Factor I Deficiency

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34MalaCards
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MalaCards organs/tissues related to Insulin-Like Growth Factor I Deficiency:

34
Brain

Animal Models for Insulin-Like Growth Factor I Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Insulin-Like Growth Factor I Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7GHR, IGF1R, IGF1
2MP:00053718.6IGF1, IGF1R, GHR
3MP:00053698.6GHR, IGF1R, IGF1
4MP:00053908.5IGF1, IGF1R, GHR
5MP:00053858.5GHR, IGF1R, IGF1
6MP:00107718.4GHR, IGF1R, IGF1
7MP:00053898.2IGF1, IGF1R, GHR

Publications for Insulin-Like Growth Factor I Deficiency

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53PubMed
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Articles related to Insulin-Like Growth Factor I Deficiency:

(show all 16)
idTitleAuthorsYear
1
Adult and near-adult height in patients with severe insulin-like growth factor-I deficiency after long-term therapy with recombinant human insulin-like growth factor-I. (23887143)
2013
2
Early brain amyloidosis in APP/PS1 mice with serum insulin-like growth factor-I deficiency. (22230888)
2012
3
Long-term auxological and pubertal outcome of patients with hereditary insulin-like growth factor-I deficiency (Laron and growth hormone-gene deletion syndrome) treated with recombinant human insulin-like growth factor-I. (20543555)
2011
4
Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain. (20606392)
2010
5
Diagnosis and management of primary insulin-like growth factor-I deficiency: current perspectives and clinical update. (20463651)
2010
6
Insulin-like growth factor-I deficiency in children with growth hormone insensitivity: current and future treatment options. (19627167)
2009
7
Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations. (18073295)
2008
8
Insulin-like growth factor I deficiency prolongs survival and antagonizes paraquat-induced cardiomyocyte dysfunction: role of oxidative stress. (17979500)
2007
9
A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor. (16464942)
2006
10
Defining insulin-like growth factor-I deficiency. (16508328)
2006
11
Adult-onset growth hormone and insulin-like growth factor I deficiency reduces neoplastic disease, modifies age-related pathology, and increases life span. (15790724)
2005
12
Effects of insulin-like growth factor-I deficiency and replacement therapy on the hematopoietic system in patients with Laron syndrome (primary growth hormone insensitivity). (12793602)
2003
13
Postnatal serum insulin-like growth factor I deficiency is associated with retinopathy of prematurity and other complications of premature birth. (14595040)
2003
14
Insulin-like growth factor -I deficiency. (11408756)
2001
15
Insulin-like growth factor-I deficiency caused by a partial deletion of the IGF-I gene: effects of rhIGF-I therapy. (10549306)
1999
16
Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population. (9626125)
1998

Variations for Insulin-Like Growth Factor I Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Insulin-Like Growth Factor I Deficiency:

65
id Symbol AA change Variation ID SNP ID
1IGF1Rp.Arg138GlnVAR_034891
2IGF1Rp.Lys145AsnVAR_034892
3IGF1Rp.Arg739GlnVAR_034895

Clinvar genetic disease variations for Insulin-Like Growth Factor I Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1IGF1NM_001111283.1(IGF1): c.292C> T (p.Arg98Trp)single nucleotide variantPathogenicGRCh37Chr 12, 102813397: 102813397
2IGF1NM_001111283.1(IGF1): c.274G> A (p.Val92Met)single nucleotide variantPathogenicrs121912430GRCh37Chr 12, 102813415: 102813415
3IGF1RNM_000875.4(IGF1R): c.413G> A (p.Arg138Gln)single nucleotide variantPathogenicrs121912426GRCh37Chr 15, 99251109: 99251109
4IGF1RNM_000875.4(IGF1R): c.435A> C (p.Lys145Asn)single nucleotide variantPathogenicrs121912427GRCh37Chr 15, 99251131: 99251131
5IGF1RNM_000875.4(IGF1R): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs121912428GRCh37Chr 15, 99250961: 99250961
6IGF1RNM_000875.4(IGF1R): c.2216G> A (p.Arg739Gln)single nucleotide variantPathogenicrs121912429GRCh37Chr 15, 99465391: 99465391
7IGF1RNM_000875.4(IGF1R): c.1532G> A (p.Arg511Gln)single nucleotide variantPathogenicrs33958176GRCh37Chr 15, 99454613: 99454613

Expression for genes affiliated with Insulin-Like Growth Factor I Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Insulin-Like Growth Factor I Deficiency

Search GEO for disease gene expression data for Insulin-Like Growth Factor I Deficiency.

Pathways for genes affiliated with Insulin-Like Growth Factor I Deficiency

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN, 13EMD Millipore
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Pathways related to Insulin-Like Growth Factor I Deficiency according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.9IGF1R
2
Show member pathways
9.0IGF1R, IGF1
3
Show member pathways
Apoptosis and survival BAD phosphorylation61
Development Alpha 2 adrenergic receptor activation of ERK61
Chemotaxis CXCR4 signaling pathway61
9.0IGF1, IGF1R
49.0IGF1R, IGF1
5
Show member pathways
9.0IGF1R, IGF1
6
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.0IGF1, IGF1R
7
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
9.0IGF1R, IGF1
8
Show member pathways
Signal transduction PTEN pathway61
9.0IGF1R, IGF1
9
Show member pathways
Signaling Pathways in Glioblastoma39
9.0IGF1, IGF1R
10
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.0IGF1, IGF1R
11
Show member pathways
9.0IGF1R, IGF1
129.0IGF1R, IGF1
13
Show member pathways
9.0IGF1R, IGF1
14
Show member pathways
9.0IGF1, IGF1R
15
Show member pathways
9.0IGF1, IGF1R
16
Show member pathways
Development Ligand independent activation of ESR1 and ESR261
9.0IGF1R, IGF1
17
Show member pathways
9.0IGF1R, IGF1
189.0IGF1R, IGF1
19
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.0IGF1, IGF1R
209.0IGF1R, IGF1
21
Show member pathways
FAS pathway and Stress induction of HSP regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
9.0IGF1R, IGF1
229.0IGF1, IGF1R
239.0IGF1R, IGF1
249.0IGF1R, IGF1
25
Show member pathways
9.0IGF1, IGF1R
269.0IGF1R, IGF1
279.0IGF1R, IGF1
289.0IGF1, IGF1R
299.0IGF1R, IGF1
30
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.0IGF1R, IGF1
31
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis61
9.0IGF1, IGF1R
32
Show member pathways
8.5GHR, IGF1R, IGF1
33
Show member pathways
8.5GHR, IGF1R, IGF1
34
Show member pathways
8.5GHR, IGF1R, IGF1
358.5GHR, IGF1R, IGF1
368.5IGF1, IGF1R, GHR

Compounds for genes affiliated with Insulin-Like Growth Factor I Deficiency

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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Compounds related to Insulin-Like Growth Factor I Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1ghrp469.5GHR, IGF1
2hexarelin46 3010.5GHR, IGF1
3pegvisomant46 1210.5GHR, IGF1
4lanreotide46 3010.5IGF1, GHR
5leuprolide acetate469.5IGF1, GHR
6cabergoline46 30 1211.5GHR, IGF1
7bms 536924629.5IGF1, IGF1R
8demethylasterriquinone b1629.5IGF1, IGF1R
9insulin (human) recombinant629.5IGF1, IGF1R
10picropodophyllotoxin629.5IGF1, IGF1R
11mecasermin46 1210.5IGF1R, IGF1
12podophyllotoxin469.5IGF1, IGF1R
13ag 1024469.5IGF1, IGF1R
14bromocriptine46 30 1211.4GHR, IGF1
15dehydroepiandrosterone sulfate469.4GHR, IGF1
16clomiphene citrate469.4IGF1R, IGF1
17clonidine46 52 30 1212.4IGF1, GHR
18lycopene46 2510.4IGF1, IGF1R
19eb 108946 6210.4IGF1R, IGF1
20raloxifene46 52 30 1212.3IGF1R, IGF1
21procollagen469.3GHR, IGF1
222-deoxyglucose46 1210.3IGF1R, IGF1
23triiodothyronine469.2IGF1, GHR
24prostaglandin f2alpha469.2IGF1, IGF1R
254-hydroxytamoxifen469.2IGF1R, IGF1
26ag 1478469.1IGF1, IGF1R
27octreotide46 62 30 1212.0GHR, IGF1R, IGF1
28c-peptide469.0IGF1, IGF1R, GHR
29dihydrotestosterone46 30 25 1211.9IGF1, IGF1R, GHR
30calcitriol46 62 25 1211.9GHR, IGF1R, IGF1
31gnrh468.9GHR, IGF1R, IGF1
32ribonucleic acid468.9GHR, IGF1R, IGF1
33tamoxifen46 52 30 1211.9GHR, IGF1R, IGF1
34vitamin d468.9IGF1, IGF1R, GHR
35estradiol46 25 1210.9GHR, IGF1R, IGF1
36glutamine468.9IGF1, IGF1R, GHR
37thymidine46 259.9GHR, IGF1R, IGF1
38creatinine468.9GHR, IGF1R, IGF1
39cycloheximide468.9IGF1, IGF1R, GHR
40progesterone46 30 62 25 1212.9GHR, IGF1R, IGF1
41testosterone46 62 25 1211.8GHR, IGF1R, IGF1
42cholesterol46 30 25 1211.8IGF1, IGF1R, GHR
43androstenedione46 259.8GHR, IGF1
44steroid468.8GHR, IGF1R, IGF1
45dexamethasone46 52 30 1211.8IGF1, IGF1R, GHR
46arginine468.8GHR, IGF1R, IGF1
47phosphatidylinositol468.7IGF1, IGF1R, GHR
48estrogen468.5IGF1, IGF1R, GHR
49glucose468.5GHR, IGF1R, IGF1
50retinoic acid46 259.4IGF1, IGF1R, GHR

GO Terms for genes affiliated with Insulin-Like Growth Factor I Deficiency

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17Gene Ontology
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Cellular components related to Insulin-Like Growth Factor I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.3GHR, IGF1R

Biological processes related to Insulin-Like Growth Factor I Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.3IGF1, GHR
2regulation of multicellular organism growthGO:0400149.2IGF1, GHR
3exocrine pancreas developmentGO:0310179.2IGF1R, IGF1
4mammary gland developmentGO:0308799.2IGF1R, IGF1
5positive regulation of DNA replicationGO:0457409.1IGF1R, IGF1
6positive regulation of MAPK cascadeGO:0434109.0IGF1R, IGF1
7phosphatidylinositol-mediated signalingGO:0480159.0IGF1R, IGF1
8positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0IGF1, GHR
9positive regulation of protein kinase B signalingGO:0518978.7IGF1R, IGF1
10insulin-like growth factor receptor signaling pathwayGO:0480098.7GHR, IGF1R, IGF1

Molecular functions related to Insulin-Like Growth Factor I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.0IGF1R, IGF1

Products for genes affiliated with Insulin-Like Growth Factor I Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Insulin-Like Growth Factor I Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet