MCID: INS008
MIFTS: 56

Insulin-Like Growth Factor I Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases, Ear diseases, Mental diseases categories
Download this MalaCard

Summaries for Insulin-Like Growth Factor I Deficiency

About this section


Fully expand this MalaCard
Wikipedia:65 Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a protein that in humans is encoded... more...

MalaCards based summary: Insulin-Like Growth Factor I Deficiency, also known as igf1 deficiency, is related to breast cancer and growth hormone deficiency, and has symptoms including chromosomal or genetic anomaly, autosomal dominant inheritance and autosomal recessive inheritance. 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:46 270450

Aliases & Classifications for Insulin-Like Growth Factor I Deficiency

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 44Novoseek, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Insulin-Like Growth Factor I Deficiency, Aliases & Descriptions:

Name: Insulin-Like Growth Factor I Deficiency 42 20 22 62
Igf1 Deficiency 42 44
Growth Retardation with Sensorineural Deafness and Mental Retardation 42
 
Growth Delay Due to Insulin-Like Growth Factor I Resistance 48
Insulin-Like Growth Factor I 46
Resistance to Igf-1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
growth delay due to insulin-like growth factor i resistance:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 270450
ICD10 via Orphanet26 E34.3

Related Diseases for Insulin-Like Growth Factor I Deficiency

About this section

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

(show top 50)    (show all 261)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.9IGF1R, GHR
2growth hormone deficiency31.7IGF1, GHR
3acromegaly31.6IGF1, GHR
4polycystic ovary syndrome31.4IGF1, IGF1R
5prostate cancer31.3GHR, IGF1R, IGF1
6rabson-mendenhall syndrome31.2IGF1
7lung cancer31.2IGF1R, IGF1
8insulin resistance31.1IGF1, IGF1R, GHR
9osteoporosis31.1IGF1, GHR
10precocious puberty31.1GHR, IGF1
11myeloma31.0IGF1R, IGF1
12hypoglycemia31.0IGF1, GHR
13osteosarcoma31.0GHR, IGF1R, IGF1
14anorexia nervosa31.0GHR, IGF1
15hyperandrogenism31.0IGF1R, IGF1
16dwarfism30.9GHR, IGF1
17turner syndrome30.8GHR, IGF1
18type 1 diabetes mellitus30.8GHR, IGF1
19type 2 diabetes mellitus30.8IGF1R, IGF1
20glucose intolerance30.8GHR, IGF1
21endometrial carcinoma30.7IGF1R, IGF1
22pituitary tumors30.7GHR, IGF1
23adenoma30.7GHR, IGF1R, IGF1
24insulin-like growth factor 1 resistance to30.7IGF1R, IGF1
25hyperthyroidism30.6GHR, IGF1
26hyperglycemia30.6GHR, IGF1R, IGF1
27laron syndrome30.6GHR, IGF1
28hypopituitarism30.4IGF1, GHR
29hyperinsulinism30.4IGF1, GHR
30proliferative diabetic retinopathy30.4GHR, IGF1
31uremia30.4GHR, IGF1
32pituitary adenoma30.3GHR, IGF1
33short stature29.8IGF1, IGF1R, GHR
34prostatitis11.2
35diabetes mellitus11.1
36obesity11.1
37pancreatitis11.0
38endotheliitis11.0
39hepatitis11.0
40neuronitis11.0
41neuroblastoma10.9
42thyroiditis10.9
43colorectal cancer10.9
44pancreatic cancer10.9
45ovarian cancer10.8
46colon cancer10.8
47hypertension10.8
48liver cirrhosis10.8
49leiomyoma10.8
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

About this section

Symptoms by clinical synopsis from OMIM:

270450

Clinical features from OMIM:

270450

Symptoms:

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

HPO human phenotypes related to Insulin-Like Growth Factor I Deficiency:

(show all 33)
id Description Frequency HPO Source Accession
1 intrauterine growth retardation hallmark (90%) HP:0001511
2 short stature hallmark (90%) HP:0004322
3 everted lower lip vermilion typical (50%) HP:0000232
4 thin vermilion border typical (50%) HP:0000233
5 microcephaly typical (50%) HP:0000252
6 abnormality of the philtrum typical (50%) HP:0000288
7 wide nasal bridge typical (50%) HP:0000431
8 pectus excavatum typical (50%) HP:0000767
9 brachydactyly syndrome typical (50%) HP:0001156
10 abnormality of the nipple typical (50%) HP:0004404
11 cognitive impairment typical (50%) HP:0100543
12 autosomal dominant inheritance HP:0000006
13 autosomal recessive inheritance HP:0000007
14 thin upper lip vermilion HP:0000219
15 microcephaly HP:0000252
16 smooth philtrum HP:0000319
17 long philtrum HP:0000343
18 wide nasal bridge HP:0000431
19 agitation HP:0000713
20 anxiety HP:0000739
21 delayed speech and language development HP:0000750
22 pectus excavatum HP:0000767
23 motor delay HP:0001270
24 intrauterine growth retardation HP:0001511
25 abnormality of the rib cage HP:0001547
26 abnormality of metabolism/homeostasis HP:0001939
27 abnormal facial shape HP:0001999
28 delayed skeletal maturation HP:0002750
29 congenital onset HP:0003577
30 short stature HP:0004322
31 decreased body weight HP:0004325
32 radial deviation of finger HP:0009466
33 clinodactyly HP:0030084

Drugs & Therapeutics for Insulin-Like Growth Factor I Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Insulin-Like Growth Factor I Deficiency

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

Genetic Tests for Insulin-Like Growth Factor I Deficiency

About this section

Genetic tests related to Insulin-Like Growth Factor I Deficiency:

id Genetic test Affiliating Genes
1 Insulin-Like Growth Factor I Deficiency20 22 IGF1

Anatomical Context for Insulin-Like Growth Factor I Deficiency

About this section

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

32
Brain

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

About this section

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

36
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

About this section

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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Insulin-Like Growth Factor I Deficiency:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1IGF1RNM_000875.4(IGF1R): c.413G> A (p.Arg138Gln)single nucleotide variantPathogenicrs121912426GRCh37Chr 15, 99251109: 99251109
2IGF1RNM_000875.4(IGF1R): c.435A> C (p.Lys145Asn)single nucleotide variantPathogenicrs121912427GRCh37Chr 15, 99251131: 99251131
3IGF1RNM_000875.4(IGF1R): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs121912428GRCh37Chr 15, 99250961: 99250961
4IGF1RNM_000875.4(IGF1R): c.2216G> A (p.Arg739Gln)single nucleotide variantPathogenicrs121912429GRCh37Chr 15, 99465391: 99465391
5IGF1RNM_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

About this section
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

About this section

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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.9IGF1R
2
Show member pathways
9.0IGF1R, IGF1
3
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
9.0IGF1, IGF1R
49.0IGF1R, IGF1
5
Show member pathways
9.0IGF1R, IGF1
6
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.0IGF1, IGF1R
7
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
9.0IGF1R, IGF1
8
Show member pathways
Signal transduction PTEN pathway60
9.0IGF1R, IGF1
9
Show member pathways
Signaling Pathways in Glioblastoma37
9.0IGF1, IGF1R
10
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
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 ESR260
9.0IGF1R, IGF1
17
Show member pathways
9.0IGF1R, IGF1
189.0IGF1R, IGF1
19
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.0IGF1, IGF1R
209.0IGF1R, IGF1
21
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
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 Receptor60
9.0IGF1R, IGF1
31
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
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

About this section

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

(show top 50)    (show all 72)
idCompoundScoreTop Affiliating Genes
1ghrp449.5GHR, IGF1
2hexarelin44 2810.5GHR, IGF1
3pegvisomant44 1110.5GHR, IGF1
4lanreotide44 2810.5IGF1, GHR
5leuprolide acetate449.5IGF1, GHR
6cabergoline44 28 1111.5GHR, IGF1
7bms 536924619.5IGF1, IGF1R
8demethylasterriquinone b1619.5IGF1, IGF1R
9insulin (human) recombinant619.5IGF1, IGF1R
10picropodophyllotoxin619.5IGF1, IGF1R
11mecasermin44 1110.5IGF1R, IGF1
12podophyllotoxin449.5IGF1, IGF1R
13ag 1024449.5IGF1, IGF1R
14bromocriptine44 28 1111.4GHR, IGF1
15dehydroepiandrosterone sulfate449.4GHR, IGF1
16clomiphene citrate449.4IGF1R, IGF1
17clonidine44 50 28 1112.4IGF1, GHR
18lycopene44 2410.4IGF1, IGF1R
19eb 108944 6110.4IGF1R, IGF1
20raloxifene44 50 28 1112.3IGF1R, IGF1
21procollagen449.3GHR, IGF1
222-deoxyglucose44 1110.3IGF1R, IGF1
23triiodothyronine449.2IGF1, GHR
24prostaglandin f2alpha449.2IGF1, IGF1R
254-hydroxytamoxifen449.2IGF1R, IGF1
26ag 1478449.1IGF1, IGF1R
27octreotide44 61 28 1112.0GHR, IGF1R, IGF1
28c-peptide449.0IGF1, IGF1R, GHR
29dihydrotestosterone44 28 24 1111.9IGF1, IGF1R, GHR
30calcitriol44 61 24 1111.9GHR, IGF1R, IGF1
31gnrh448.9GHR, IGF1R, IGF1
32ribonucleic acid448.9GHR, IGF1R, IGF1
33tamoxifen44 50 28 1111.9GHR, IGF1R, IGF1
34vitamin d448.9IGF1, IGF1R, GHR
35estradiol44 24 1110.9GHR, IGF1R, IGF1
36glutamine448.9IGF1, IGF1R, GHR
37thymidine44 249.9GHR, IGF1R, IGF1
38creatinine448.9GHR, IGF1R, IGF1
39cycloheximide448.9IGF1, IGF1R, GHR
40progesterone44 28 61 24 1112.9GHR, IGF1R, IGF1
41testosterone44 61 24 1111.8GHR, IGF1R, IGF1
42cholesterol44 28 24 1111.8IGF1, IGF1R, GHR
43androstenedione44 249.8GHR, IGF1
44steroid448.8GHR, IGF1R, IGF1
45dexamethasone44 50 28 1111.8IGF1, IGF1R, GHR
46arginine448.8GHR, IGF1R, IGF1
47phosphatidylinositol448.7IGF1, IGF1R, GHR
48estrogen448.5IGF1, IGF1R, GHR
49glucose448.5GHR, IGF1R, IGF1
50retinoic acid44 249.4IGF1, IGF1R, GHR

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Insulin-Like Growth Factor I Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet