IGF1RES
MCID: INS024
MIFTS: 79

Insulin-Like Growth Factor I (IGF1RES)

Categories: Ear diseases, Endocrine diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Insulin-Like Growth Factor I

MalaCards integrated aliases for Insulin-Like Growth Factor I:

Name: Insulin-Like Growth Factor I 57
Insulin-Like Growth Factor I Deficiency 57 53 74 37 29 6 72
Igf1 Deficiency 57 53 74 55
Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 57 13 40
Insulin-Like Growth Factor I, Resistance to 57 13 72
Insulin-Like Growth Factor 1 Resistance to 53 29 6
Growth Retardation with Sensorineural Deafness and Mental Retardation 57 53
Growth Delay Due to Insulin-Like Growth Factor I Resistance 59 37
Igf-I Resistance 57 55
Igf1res 57 74
Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency 59
Growth Delay-Deafness-Intellectual Disability Syndrome 59
Primary Insulin-Like Growth Factor Deficiency 59
Insulin-Like Growth Factor 1, Resistance to 40
Resistance to Insulin-Like Growth Factor I 74
Somatomedin, End-Organ Insensitivity to 57
Insulin-Like Growth Factor 1 Resistance 74
Somatomedin End-Organ Insensitivity to 53
End-Organ Insensitivity to Somatomedin 74
Somatomedin-C, Resistance to 57
Somatomedin-C Resistance to 53
Resistance to Somatomedin-C 74
Resistance to Igf-1 59
Igf-1 Resistance 53
Igf-1 Deficiency 59
Igf1 Resistance 74
Somatomedin-C 57

Characteristics:

Orphanet epidemiological data:

59
growth delay due to insulin-like growth factor type 1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
growth delay due to insulin-like growth factor i resistance
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in utero
dominant and recessive patients have iugr, short stature, and microcephaly
heterozygous relatives of some biallelic patients appear to be unaffected


HPO:

32
insulin-like growth factor i:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

insulin-like growth factor i deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

MeSH 44 D006130
ICD10 via Orphanet 34 E34.3
UMLS via Orphanet 73 C1837475 C1849157
UMLS 72 C1837475 C1849157

Summaries for Insulin-Like Growth Factor I

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 73273DefinitionGrowth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).EpidemiologyPrevalence is unknown.EtiologyIGF-I resistance may be caused by a variety of genetic defects: ring chromosome 15, distal heterozygous 15q deletions encompassing the IGF1R gene (15q26.3), or IGF1R gene mutations. Intellectual deficit is pronounced in patients with ring chromosome 15 but varies depending on the size of the deletion and on the functions of other deleted genes in patients with 15q deletions. Partial IGF-I insensitivity due to IGF1R haploinsufficiency has been reported in one patient with a small deletion encompassing one allele of the IGF1R gene and was characterised by small size for gestational age, persistent growth failure that improved considerably with GH therapy, and the absence of intellectual deficit. IGF1R mutations have been described in six patients so far and were associated with variable growth delay and degrees of intellectual deficit.Diagnostic methodsDiagnosis relies on karyotyping for detection of ring chromosome 15, detection of small deletions encompassing IGF1R and detection of IGF1R mutations by sequence variation screening methods or by direct sequencing of the 21 IGF1R exons and their intron-exon junctions.Differential diagnosisThe differential diagnosis should include bio-inactive IGF-I resulting in IGF-I deficiency (see this term). Measurement of IGF-I levels can be used for diagnosis but circulating levels of IGF-I may vary over time for the same patient and may not be elevated in case of poor nutritional status.Antenatal diagnosisPrenatal diagnosis has not been reported and is complicated by the variable expressivity (even within the same family) of some of the reported mutations, especially in terms of their impact on intellectual development.Genetic counselingIn all but one of these patients, the mutations were heterozygous and transmitted as an autosomal dominant trait. Affected families should be offered genetic counselling and informed of a 50% risk of recurrence for dominant inheritance and of a 25% risk of recurrence for recessive transmission.Management and treatmentManagement involves nutritional and developmental support. Although deafness has not yet been reported in patients with IGF-I resistance, it is present in some patients with IGF-I deficiency (caused by mutations in the gene encoding the IGF1R ligand, IGFI). As a result, screening for deafness should be proposed for all patients with IGF-I resistance. Some patients with IGF-I resistance show increased growth velocity with recombinant GH therapy while others show no response.PrognosisPrognosis varies depending on the underlying molecular anomaly.Visit the Orphanet disease page for more resources.

MalaCards based summary : Insulin-Like Growth Factor I, also known as insulin-like growth factor i deficiency, is related to acid-labile subunit deficiency and laron syndrome, and has symptoms including agitation An important gene associated with Insulin-Like Growth Factor I is IGF1 (Insulin Like Growth Factor 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Oocyte meiosis. The drugs Clonidine and Insulin Aspart have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and liver, and related phenotypes are failure to thrive and delayed skeletal maturation

OMIM : 57 Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features. (270450)

KEGG : 37
Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.

UniProtKB/Swiss-Prot : 74 Insulin-like growth factor 1 resistance: A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. Insulin-like growth factor I deficiency: Autosomal recessive disorder characterized by growth retardation, sensorineural deafness and mental retardation.

Wikipedia : 75 Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a hormone similar in molecular... more...

Related Diseases for Insulin-Like Growth Factor I

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

(show top 50) (show all 796)
# Related Disease Score Top Affiliating Genes
1 acid-labile subunit deficiency 33.9 IGFBP3 IGF2 IGF1
2 laron syndrome 33.8 IGFBP3 IGF2 IGF1 GHR GH1
3 growth hormone deficiency 32.5 IGFBP3 IGF1 GH1
4 diabetes mellitus, insulin-dependent 32.1 INS IGFBP3 IGFBP1 IGF1
5 nutritional deficiency disease 32.0 IGFBP3 IGFBP1 IGF1
6 hyperglycemia 31.9 IRS1 INSR INS IGF1
7 hyperinsulinism 31.9 INSR INS IGFBP3 IGFBP1 IGF1 GH1
8 acromegaly 31.9 INS IGFBP3 IGFBP1 IGF2 IGF1 GHR
9 isolated growth hormone deficiency 31.9 IGF1 GHR GH1
10 hypopituitarism 31.8 INS IGFBP3 IGF1 GH1
11 polycystic ovary syndrome 31.8 IRS1 INSR INS IGFBP1 IGF1
12 turner syndrome 31.7 IGFBP3 IGFBP1 IGF1 GHR GH1
13 donohue syndrome 31.6 INSR INS IGF1R IGF1
14 osteoporosis 31.6 IGFBP4 IGFBP3 IGF1 GHR GH1
15 glucose intolerance 31.6 IRS1 INSR INS IGFBP1 IGF1
16 hyperandrogenism 31.6 INSR INS IGFBP1 IGF1
17 acanthosis nigricans 31.5 INSR INS IGF1R IGF1
18 microvascular complications of diabetes 1 31.5 INS IGFBP3 IGF1
19 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 31.4 INSR INS IGFBP3 IGF1
20 pituitary gland disease 31.4 INS IGF1 GH1
21 craniopharyngioma 31.3 INS IGF1 GH1
22 anorexia nervosa 31.3 IGFBP3 IGFBP2 IGFBP1 IGF1 GHR GH1
23 pituitary hormone deficiency, combined, 2 31.3 IGF1 GHR GH1
24 pituitary adenoma 1, multiple types 31.3 IGFBP3 IGF1 GH1
25 fasting hypoglycemia 31.2 INSR IGF2 IGF1
26 gestational diabetes 31.2 IRS1 INSR INS
27 breast disease 31.2 IGFBP3 IGFBP1 IGF2 IGF1
28 secondary adrenal insufficiency 31.1 INS IGFBP3 IGF1
29 fetal macrosomia 31.1 INSR INS IGFBP3 IGF2 IGF1
30 marasmus 31.1 IGFBP3 IGF1 GH1
31 silver-russell syndrome 31.1 IGFBP3 IGFBP1 IGF2 IGF1 GH1
32 overnutrition 31.0 IRS1 INS IGF1
33 isolated growth hormone deficiency, type ib 30.9 IGFBP3 IGF1 GHR GH1
34 ovarian disease 30.9 INS IGFBP2 IGFBP1 IGF1R IGF1 AKT1
35 ewing sarcoma 30.9 INS IGFBP3 IGF2 IGF1R IGF1 AKT1
36 pancreas disease 30.8 INS IGF2 IGF1 AKT1
37 body mass index quantitative trait locus 11 30.7 IRS1 INSR INS IGFBP3 IGFBP2 IGFBP1
38 prader-willi syndrome 30.7 INS IGFBP3 IGFBP1 IGF2 IGF1 GHR
39 muscular disease 30.5 INS IGF2 IGF1 AKT1
40 gonadal disease 30.5 INS IGF1 GH1 AKT1
41 endometrial cancer 30.4 INS IGFBP1 IGF1R IGF1 AKT2 AKT1
42 diabetes mellitus 30.3 IRS1 INSR INS IGFBP1 IGF1 AKT2
43 diabetes mellitus, noninsulin-dependent 29.8 IRS1 INSR INS IGFBP3 IGFBP1 IGF2
44 prostate cancer 29.8 ITGA6 IGFBP3 IGFBP2 IGF2 IGF1R IGF1
45 breast cancer 29.3 IRS1 INS IGFBP5 IGFBP3 IGF2 IGF1R
46 growth factors, combined defect of 11.7
47 kowarski syndrome 11.5
48 isolated growth hormone deficiency, type iv 11.5
49 hypoglycemia 10.9
50 colorectal cancer 10.8

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



Diseases related to Insulin-Like Growth Factor I

Symptoms & Phenotypes for Insulin-Like Growth Factor I

Human phenotypes related to Insulin-Like Growth Factor I:

59 32 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002750
3 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
4 microcephaly 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000252
5 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
6 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
7 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
8 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
9 congenital sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008527
10 severe postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008850
11 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
12 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
13 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
14 bilateral sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008619
15 prelingual sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000399
16 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
17 clinodactyly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0030084
18 intellectual disability 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001249
19 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
20 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
21 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
22 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
23 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
24 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
25 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
26 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
27 wide intermamillary distance 59 32 very rare (1%) Frequent (79-30%) HP:0006610
28 motor delay 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001270
29 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
30 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
31 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
32 neonatal hyperbilirubinemia 59 32 frequent (33%) Frequent (79-30%) HP:0003265
33 small placenta 59 32 frequent (33%) Frequent (79-30%) HP:0006266
34 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
35 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
36 concave nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0011120
37 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
38 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
39 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294
40 truncal obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001956
41 single transverse palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0000954
42 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
43 congenital bilateral ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007911
44 ptosis 59 32 Occasional (29-5%) HP:0000508
45 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
46 hyperactivity 59 32 Very frequent (99-80%) HP:0000752
47 short attention span 59 32 Very frequent (99-80%) HP:0000736
48 low-set ears 32 HP:0000369
49 high palate 32 HP:0000218
50 diabetes mellitus 32 HP:0000819

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
short fingers
small hands

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation
poor growth

Head And Neck Face:
triangular face
long, smooth philtrum
facial dysmorphism (in some patients)
receding hairline
progeroid appearance (in some recessive patients)
more
Head And Neck Nose:
broad nasal bridge

Growth Weight:
low weight

Chest External Features:
pectus excavatum (rare)

Head And Neck Ears:
low-set ears (recessive)

Head And Neck Teeth:
delayed eruption of dentition (recessive)
small opalescent teeth (recessive)
brittle teeth (recessive)
eroded teeth (recessive)

Cardiovascular Heart:
patent foramen ovale (recessive)
atrial septal defect (recessive)
ventricular septal defect (recessive)

Skin Nails Hair Skin:
axillary acanthosis nigricans (recessive)

Muscle Soft Tissue:
reduced subcutaneous fat (recessive)
truncal obesity (recessive)
lipodystrophy (recessive)

Endocrine Features:
elevated baseline insulin (recessive)
diabetes mellitus, type 2 (in some heterozygous adults)
diabetes mellitus, type 1 (in 1 recessive adolescent patient)

Neurologic Central Nervous System:
global developmental delay
delayed motor development
mental retardation
speech delay
developmental delay, mild
more
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
agitation
anxious affect
obsessive tendencies

Head And Neck Mouth:
thin upper lip
fleshy lower lip
high-arched palate (recessive)
small mouth (recessive)

Skeletal:
delayed bone age

Skeletal Feet:
small feet
sandal gap (recessive)

Chest Breasts:
widely spaced nipples (rare)

Head And Neck Eyes:
deep-set eyes (recessive)
strabismus (recessive)
synophrys (recessive)
arched eyebrows (recessive)
upslanting palpebral fissures (recessive)
more
Head And Neck Neck:
pterygium colli (recessive)

Cardiovascular Vascular:
narrowing of pulmonary branch arteries (recessive)
continuation of inferior vena cava to azygos vein (recessive)

Skin Nails Hair Hair:
sparse scalp hair (recessive)

Voice:
high-pitched voice (recessive)

Laboratory Abnormalities:
increased serum insulin-like growth factor-1 (igf1, )
increased or normal serum growth hormone (gh, )

Clinical features from OMIM:

270450 608747

UMLS symptoms related to Insulin-Like Growth Factor I:


agitation

GenomeRNAi Phenotypes related to Insulin-Like Growth Factor I according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.6 ITGB3
2 Decreased viability GR00221-A-1 10.6 AKT1 AKT2 IGF1R INSR IRS1
3 Decreased viability GR00221-A-2 10.6 AKT1 IGF1R INSR IRS1 ITGAV ITGB3
4 Decreased viability GR00221-A-3 10.6 AKT1 AKT2 IGF1R INSR
5 Decreased viability GR00221-A-4 10.6 AKT1 AKT2 INSR ITGB3
6 Decreased viability GR00301-A 10.6 AKT2 IGF1R
7 Decreased viability GR00342-S-2 10.6 IGF1R IRS1
8 Decreased viability GR00342-S-3 10.6 AKT2 IRS1
9 Decreased viability GR00381-A-1 10.6 ITGAV
10 Decreased viability GR00402-S-2 10.6 AKT1 AKT2 IGF1R INSR IRS1 ITGAV
11 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.73 AKT2 IGF1R IRS1 ITGA6 ITGAV ITGB3
12 Increased cell death HMECs cells GR00103-A-0 9.5 IGF1R IGFBP4 IGFBP6 INS INSR IRS1
13 Increased cell viability after pRB stimulation GR00230-A-1 8.92 AKT1 AKT2 IGF1R INSR

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

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.41 AKT1 AKT2 GHR IGF1 IGF1R IGF2
2 cellular MP:0005384 10.39 AKT1 AKT2 GHR IGF1 IGF1R IGF2
3 endocrine/exocrine gland MP:0005379 10.39 AKT1 AKT2 GHR IGF1 IGF1R IGF2
4 cardiovascular system MP:0005385 10.36 AKT1 GHR IGF1 IGF1R IGF2 IGFBP2
5 homeostasis/metabolism MP:0005376 10.36 AKT1 AKT2 GHR IGF1 IGF1R IGF2
6 hematopoietic system MP:0005397 10.34 AKT1 AKT2 GHR IGF1 IGF1R IGF2
7 immune system MP:0005387 10.34 AKT1 AKT2 GHR IGF1 IGF1R IGF2
8 adipose tissue MP:0005375 10.33 AKT1 AKT2 GHR IGF1 IGF1R IGFBP3
9 muscle MP:0005369 10.25 AKT1 AKT2 GHR IGF1 IGF1R IGF2
10 liver/biliary system MP:0005370 10.21 AKT1 AKT2 GHR IGF1R IGF2 IGFBP1
11 integument MP:0010771 10.18 AKT1 AKT2 GHR IGF1 IGF1R IGF2
12 embryo MP:0005380 10.16 AKT1 GHR IGF1R IGF2 INS ITGA6
13 digestive/alimentary MP:0005381 10.11 IGF1R IGF2 INS INSR ITGA6 ITGAV
14 nervous system MP:0003631 10.06 AKT1 AKT2 GHR IGF1 IGF1R IGF2
15 limbs/digits/tail MP:0005371 10 GHR IGF1 IGF1R IGF2 IGFBP3 IRS1
16 neoplasm MP:0002006 9.91 AKT1 AKT2 IGF1 IGF1R ITGA6 ITGAV
17 renal/urinary system MP:0005367 9.91 GHR IGF1 IGF2 IGFBP2 INS INSR
18 reproductive system MP:0005389 9.81 AKT1 AKT2 GHR IGF1 IGF1R IGF2
19 respiratory system MP:0005388 9.56 AKT1 AKT2 IGF1 IGF1R IGF2 INSR
20 skeleton MP:0005390 9.32 AKT1 AKT2 GHR IGF1 IGF1R IGF2

Drugs & Therapeutics for Insulin-Like Growth Factor I

Drugs for Insulin-Like Growth Factor I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Insulin Aspart Approved Phase 4 116094-23-6 16132418
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
5
Cabergoline Approved Phase 4 81409-90-7 54746
6
Somatostatin Approved, Investigational Phase 4 38916-34-6, 51110-01-1 53481605
7
Cetrorelix Approved, Investigational Phase 4 120287-85-6 25074887 16129715
8 Antihypertensive Agents Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-Agonists Phase 4
12 Adrenergic Agents Phase 4
13 Sympatholytics Phase 4
14 arginine Phase 4
15 Neurotransmitter Agents Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Autonomic Agents Phase 4
18 Gastrointestinal Agents Phase 4
19 Protective Agents Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Cardiotonic Agents Phase 4
22 Sympathomimetics Phase 4
23 Dopamine Agents Phase 4
24 Dopamine agonists Phase 4
25 Antiparkinson Agents Phase 4
26 Fertility Agents Phase 4
27 Fenugreek Phase 4
28 Fenugreek seed meal Phase 4
29
Ethinyl Estradiol Approved Phase 2, Phase 3 57-63-6 5991
30
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
31
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
32
Levonorgestrel Approved, Investigational Phase 2, Phase 3 797-63-7, 17489-40-6 13109
33
Pasireotide Approved Phase 3 396091-73-9 9941444
34
Insulin glargine Approved Phase 3 160337-95-1
35
Insulin Detemir Approved Phase 3 169148-63-4 5311023
36
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
37
Milk thistle Approved, Experimental, Investigational Phase 2, Phase 3 65666-07-1
38
Docetaxel Approved, Investigational Phase 2, Phase 3 114977-28-5 148124
39
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
40
Sodium citrate Approved, Investigational Phase 3 68-04-2
41
Tamoxifen Approved Phase 3 10540-29-1 2733526
42 Papaya Approved Phase 2, Phase 3
43
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
44
Polyestradiol phosphate Approved Phase 3 28014-46-2
45
tannic acid Approved Phase 3 1401-55-4
46
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
47
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
48
Mecasermin Approved, Investigational Phase 3 68562-41-4
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
50
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 110)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Mechanisms of Low Protein Diet Supplemented With α-ketoacids on Autophagy and Improving Muscle Wasting in Chronic Kidney Disease: the Role of Autophagy in Muscle Wasting Unknown status NCT02568020 Phase 4 keto-amino acids
3 Insulin-like Growth Factor (IGF-I) in Hemodialysis Patients Completed NCT01209403 Phase 4 Glucose-infusion;Glucose-insulin infusion
4 An Open-label, Two-step, Multicenter European Study to Evaluate the Efficacy and Safety of Sandostatin LAR at High Dose or in Combination Either With GH-receptor Antagonist or Dopamine-agonist in Acromegalic Patients Not Adequately Controlled by Conventional Regimen Completed NCT01278342 Phase 4 Sandostatin LAR;pegvisomant;cabergoline
5 Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target Completed NCT01618513 Phase 4 Sandostatin® LAR
6 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
7 Efficacy of Growth Hormone Supplementation With Gonadotrophins in IVF/ICSI for Poor Responders; a Randomized Controlled Trial Completed NCT03759301 Phase 4 Growth Hormones Somatropin Recombinant;Placebo saline solution
8 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
9 The Effects of Weekly Administration of 40 mg Pegvisomant or Placebo on Quality of Life and Insulin Sensitivity in Acromegalic Patients With Normal IGF-I Concentrations During Long-Term Treatment With Long-Acting Somatostatin Analogs Completed NCT00642720 Phase 4 Pegvisomant
10 Influence of Protein Supplements on Serum Insulin-like Growth Factor-I Levels in Women With Anorexia Nervosa Completed NCT01823822 Phase 2, Phase 3
11 Effects of Adrenal and Gonadal Hormone Replacement in Young Women With Anorexia Nervosa Completed NCT00310791 Phase 2, Phase 3 Hormone replacement therapy (estrogen/progestin);Dehydroepiandrosterone (DHEA)
12 More Favorable Metabolic Impact of Three-times-weekly Versus Daily Growth Hormone (GH) Treatment in naïve GH-deficient Children Completed NCT03033121 Phase 3 Growth Hormone
13 A Multicenter, Randomized, Blinded Study to Assess Safety and Efficacy of Pasireotide LAR vs. Octreotide LAR in Patients With Active Acromegaly Completed NCT00600886 Phase 3 Pasireotide;Octreotide
14 Effect of NPH Insulin, Insulin Detemir and Insulin Glargine on IGFBP-1 Production and Serum IGF-I in Subjects With Type 1 Diabetes Mellitus: An Open-label, Randomised, Triple Cross-over Trial Completed NCT01461616 Phase 3 NPH;Detemir;Glargine
15 Phase 2-3 Study of Silymarin on Cisplatin Induced Nephrotoxicity Completed NCT01829178 Phase 2, Phase 3 Silymarin;Placebo;chemotherapy
16 Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Short Stature Associated With Primary IGF-1 Deficiency: A Multi-Center, Open Label, Concentration-Controlled Study Completed NCT00125190 Phase 2, Phase 3 rhIGF-1 (mecasermin) for a period of 86 weeks
17 Phase III, Multi-Center, Open, 12-Week, Follow-up Safety and Efficacy Study of Serostim® in Subjects With Human Immunodeficiency Virus-Associated Adipose Redistribution Syndrome (HARS) Completed NCT01077960 Phase 3
18 A RANDOMIZED TRIAL OF ANTIESTROGEN THERAPY VERSUS COMBINED ANTIESTROGEN AND OCTREOTIDE LAR THERAPY IN THE ADJUVANT TREATMENT OF BREAST CANCER IN POST-MENOPAUSAL WOMEN Completed NCT00002864 Phase 3 octreotide acetate;tamoxifen citrate
19 Molecular and Clinical Effects of Green Tea and Fermented Papaya Preparation on Diabetes and Cardiovascular Diseases Completed NCT01248143 Phase 2, Phase 3
20 Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Prepubertal Children With Growth Failure Associated With Primary IGF-1 Deficiency: A Phase 3, Randomized, Open Label, Observation-Controlled, Multicenter, Parallel-Dose Comparison Trial Completed NCT00125164 Phase 3 rhIGF-1 (mecasermin, Tercica, Inc.)
21 A Phase IIIb, Prospective, Multicenter, Randomized, Open-label Study to Determine the Safety and Efficacy of Two Different Dosing Regimens of Saizen® (Recombinant Human Growth Hormone (r-hGH), Using Cool.Click™ in Subjects With Childhood-onset Growth Hormone Deficiency During the Adolescent Transition Phase (CATS) Completed NCT00109733 Phase 3
22 Effects of Anorexia Nervosa on Peak Bone Mass Active, not recruiting NCT01301183 Phase 3 RhIGF-1 with transdermal 17-beta estradiol;Placebo and transdermal 17-beta estradiol
23 Recombinant Human Insulin-Like Growth Factor-1 (IGF-1) Treatment of Children With Growth Failure Associated With Primary IGF-1 Deficiency: An Open-Label, Multi-Center, Extension Study Terminated NCT00330668 Phase 3 rh IGF-1 (mecasermin)
24 A Randomized Placebo-Controlled Trial of Dehydroepiandrosterone (DHEA) Treatment for Two Months Before Starting Ovulation Induction for in Vitro Fertilization (IVF) Terminated NCT00419913 Phase 2, Phase 3
25 Effect of Increlex® on Children With Crohn Disease Terminated NCT00764699 Phase 2, Phase 3 rhIGF (Increlex)
26 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
27 A Pilot Phase II Trial of Radiation Therapy "Sandwiched" Between Paclitaxel and Carboplatin in Patients With High-Risk Endometrial Cancer After Standard Surgical Staging Unknown status NCT01041027 Phase 2 Paclitaxel;Carboplatin
28 A Prospective, Randomized Trial of Preoperative Lanreotide Treatment in Acromegalic Patients With Macroadenomas Unknown status NCT00993356 Phase 2 Preoperative lanreotide treatment
29 Phase II Long Term, Randomized Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004700 Phase 2 insulin-like growth factor I
30 A 64-Week (12-week Core Phase and 52-week Safety Extension), Phase II, Multicenter, Randomized, Open Label Study to Evaluate the Safety, Tolerability and Efficacy of Weekly TV-1106 in Adults With Growth Hormone Deficiency Completed NCT01811576 Phase 2 TV-1106;Recombinant human growth hormone
31 Safety Profile of Insulin Like Growth Factor-1 (IGF-I) Administration in Adolescents Completed NCT00516386 Phase 1, Phase 2 RhIGF-1
32 Glucocorticoid Induced Inhibition of IGF-I Activity: Exploring Underlying Mechanisms. Completed NCT01762540 Phase 2 Glucocorticoids;Calcium Supplement
33 Phase II Clinical Trial to Determine if Polyphenon E Inhibits c-Met Signaling and Activation of Pathways Contributing to Breast Cancer Progression Completed NCT00676793 Phase 2 Polyphenon E
34 Green Tea Extract and Prostate Cancer Completed NCT00676780 Phase 2 Polyphenon E (EGCG)
35 A Randomized Phase 2 Open-Label Study of IMC-A12, as a Single Agent or in Combination With Cetuximab, in Patients With Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck and Disease Progression on Prior Platinum-Based Chemotherapy Completed NCT00617734 Phase 2
36 GHRH: Cognition in Aging and MCI Completed NCT00257712 Phase 2 TH9507 human growth hormone releasing hormone (GHRH)
37 Bone Response to Soy Isoflavones in Women Completed NCT00043745 Phase 2
38 A Randomized Phase II Prevention Trial in Subjects at High Risk for Hormone Non-responsive Breast Cancer Completed NCT01500577 Phase 2 nimesulide;Simvastatin
39 A Double-Blind Placebo-Controlled Crossover Trial of Insulin-Like Growth Factor-1 (IGF-1) in Children and Adolescents With 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Recruiting NCT01525901 Phase 2 Insulin-Like Growth Factor-1 (IGF-1);Normal saline
40 A Phase 2, Open-Label, Multicenter, Clinical Trial to Evaluate the Pharmacokinetics, Safety and Efficacy of Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 in Children With Growth Failure Due to Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
41 A Randomized Phase II Clinical Trial Investigating Irinotecan Plus Cetuximab With or Without Anti-Insulin-Like Growth Factor-I Receptor Monoclonal Antibody (IMC-A12) for the Treatment of Patients With Metastatic K-Ras Wild Type Carcinoma of the Colon or Rectum That Has Progressed on Oxaliplatin and Bevacizumab Given as First-Line Therapy Terminated NCT00845039 Phase 2 Irinotecan
42 Six Month Treatment of GHRH in the Elderly Terminated NCT00807365 Phase 2 GHRH
43 Recombinant Human Growth Hormone (rhGH) and Recombinant Human Insulin-like Growth Factor-1 rhIGF-1) Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency: A Six-year, Randomized, Multi-center, Open-label, Parallel-group, Active Treatment Controlled, Dose Selection Trial Terminated NCT00572156 Phase 2 NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin])
44 Breast Cancer Chemoprevention by SOM230, an IGF-I Action Inhibitor: A Proof of Principle Trial Completed NCT01372644 Phase 1 SOM 230 / Pasireotide
45 Phase I Study of Anti-Insulin-Like Growth Factor-I Receptor (IGF-IR) Monoclonal Antibody IMC-A12 Administered Every Other Week in Patients With Advanced Solid Tumors Who No Longer Respond to Standard Therapy or for Whom No Standard Therapy is Available Completed NCT00785941 Phase 1
46 Phase I Study of Anti-Insulin-Like Growth Factor-I Receptor (IGF-IR) Monoclonal Antibody IMC-A12 in Patients With Advanced Solid Tumors Who No Longer Respond to Standard Therapy or for Whom No Standard Therapy is Available Completed NCT00785538 Phase 1
47 Impact of Estradiol Addback on Somatostatin Rebound in Older Men Completed NCT01862835 Phase 1 Degarelix;Testosterone;Anastrozole;Estrogen patch
48 Effects of Growth Hormone (GH) on Parameters of the Nitric Oxide (NO) Pathway Completed NCT00470002 Phase 1 Somatropin
49 A Phase I Study of IMC-A12 (Anti-Insulin-Like Growth Factor-I Receptor Monoclonal Antibody) in Combination With CCI-779 (Temsirolimus) in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT00880282 Phase 1 temsirolimus
50 A Phase I Study of OncoLAR® (Registered Trademark) (NSC 685403) With/Without Tamoxifen in Patients With Osteosarcoma Completed NCT00001436 Phase 1 OncoLAR® (Registered Trademark);tamoxifen

Search NIH Clinical Center for Insulin-Like Growth Factor I

Genetic Tests for Insulin-Like Growth Factor I

Genetic tests related to Insulin-Like Growth Factor I:

# Genetic test Affiliating Genes
1 Insulin-Like Growth Factor I Deficiency 29 IGF1
2 Insulin-Like Growth Factor 1 Resistance to 29 IGF1R

Anatomical Context for Insulin-Like Growth Factor I

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

41
Bone, Breast, Liver, Pituitary, Prostate, Thyroid, Skeletal Muscle

Publications for Insulin-Like Growth Factor I

Articles related to Insulin-Like Growth Factor I:

(show top 50) (show all 14210)
# Title Authors PMID Year
1
Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R. 9 38 8 71
16569742 2006
2
A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. 38 8 71
17264177 2007
3
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. 38 8 71
14657428 2003
4
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. 8 71
26252249 2015
5
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 8 71
23045302 2013
6
Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R). 8 71
22130793 2012
7
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. 8 71
15928254 2005
8
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor. 9 38 8
16757531 2006
9
Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells. 9 38 8
8964861 1996
10
An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. 38 8
21811077 2011
11
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. 38 71
15769976 2005
12
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. 9 71
14684690 2003
13
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. 38 71
8857020 1996
14
Short stature with normal growth hormone and elevated IGF-I. 38 8
1396882 1992
15
Measurement of insulin-like growth factor I (IGF-I) responsiveness of fibroblasts of children with short stature: identification of a patient with IGF-I resistance. 38 8
3818890 1987
16
Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin. 38 8
6358242 1984
17
Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature. 8
1707060 1991
18
Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome. 8
6088245 1984
19
Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin. 8
6987254 1980
20
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation. 9 38
20357178 2010
21
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. 9 38
20103656 2010
22
Mechanisms of impaired growth: effect of steroids on bone and cartilage. 9 38
19940493 2009
23
Oxidative stress inhibits insulin-like growth factor-I induction of chondrocyte proteoglycan synthesis through differential regulation of phosphatidylinositol 3-Kinase-Akt and MEK-ERK MAPK signaling pathways. 9 38
19762915 2009
24
Lack of effect of IGF-I on the glomerular filtration rate in non-diabetic patients with advanced chronic kidney disease. 9 38
19046909 2009
25
Longitudinal changes in insulin-like growth factor-I, insulin sensitivity, and secretion from birth to age three years in small-for-gestational-age children. 9 38
16912131 2006
26
Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis. 9 38
16914728 2006
27
Signaling through the small G-protein Cdc42 is involved in insulin-like growth factor-I resistance in aging articular chondrocytes. 9 38
16779831 2006
28
Cachexia: pathophysiology and clinical relevance. 9 38
16600922 2006
29
Adult-onset growth hormone and insulin-like growth factor I deficiency reduces neoplastic disease, modifies age-related pathology, and increases life span. 9 38
15790724 2005
30
Proinflammatory cytokine impairment of insulin-like growth factor I-induced protein synthesis in skeletal muscle myoblasts requires ceramide. 9 38
15256490 2004
31
Effect of IGF-I on FFA and glucose metabolism in control and type 2 diabetic subjects. 9 38
12006367 2002
32
IGF-I resistance and Turner's syndrome. 9 38
11220703 2001
33
Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population. 9 38
9626125 1998
34
Systemic and splanchnic metabolic response to exogenous human growth hormone. 9 38
9591005 1998
35
Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism. 9 38
9467572 1998
36
Insulin-like growth factor I and its binding proteins 3 and 4 are increased in Human inflammatory synovial fluid. 9 38
8724290 1996
37
Insulin-like growth factor I resistance in immortalized T cell lines from African Efe Pygmies. 9 38
8530626 1995
38
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. 9 38
8077364 1994
39
Disorders of growth hormone resistance in childhood. 9 38
8374676 1993
40
Insulin-like growth factor-I unresponsiveness in an Efe Pygmy. 9 38
8323544 1993
41
Low prevalence of autoantibodies to the insulin-like growth factor I receptor in children with short stature. 9 38
1437400 1992
42
Assessment of growth hormone (GH) axis in Turner's syndrome using 24-hour integrated concentrations of GH, insulin-like growth factor-I, plasma GH-binding activity, GH binding to IM9 cells, and GH response to pharmacological stimulation. 9 38
1386373 1992
43
Quercetin directly inhibits basal ovarian cell functions and their response to the stimulatory action of FSH. 38
31344364 2019
44
Addition of insulin-like growth factor I (IGF-I) and reduced glutathione (GSH) to cryopreserved boar semen. 38
31405463 2019
45
Effect of calorie restriction or protein intake on circulating levels of insulin like growth factor I in humans: A systematic review and meta-analysis. 38
31431306 2019
46
Serum level of insulin-like growth factor-I in type 2 diabetic patients: impact of obesity. 38
31398142 2019
47
Effects of locally applied Insulin-like Growth Factor-I on osseointegration. 38
31433388 2019
48
Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet. 38
31085021 2019
49
The effects of genetic variants related to insulin metabolism pathways and the interactions with lifestyles on colorectal cancer risk. 38
30649085 2019
50
Expression and localization of adiponectin and its receptors in ovarian follicles during different stages of development and the modulatory effect of adiponectin on steroid production in water buffalo. 38
31339602 2019

Variations for Insulin-Like Growth Factor I

ClinVar genetic disease variations for Insulin-Like Growth Factor I:

6 (show top 50) (show all 331)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IGF1R NM_000875.5(IGF1R): c.361G> A (p.Glu121Lys) single nucleotide variant protective rs1555434208 15:99251057-99251057 15:98707828-98707828
2 IGF1R NM_000875.5(IGF1R): c.700G> A (p.Glu234Lys) single nucleotide variant protective rs1253103806 15:99434613-99434613 15:98891384-98891384
3 IGF1R NM_000875.5(IGF1R): c.119G> T (p.Arg40Leu) single nucleotide variant protective rs1409058783 15:99250815-99250815 15:98707586-98707586
4 IGF1R NM_000875.5(IGF1R): c.2201G> T (p.Arg734Ile) single nucleotide variant protective rs1555460945 15:99460105-99460105 15:98916876-98916876
5 IGF1R NM_000875.5(IGF1R): c.413G> A (p.Arg138Gln) single nucleotide variant protective rs121912426 15:99251109-99251109 15:98707880-98707880
6 IGF1R NM_000875.5(IGF1R): c.435A> C (p.Lys145Asn) single nucleotide variant protective rs121912427 15:99251131-99251131 15:98707902-98707902
7 IGF1R NM_000875.5(IGF1R): c.265C> T (p.Arg89Ter) single nucleotide variant protective rs121912428 15:99250961-99250961 15:98707732-98707732
8 IGF1R NM_000875.5(IGF1R): c.2216G> A (p.Arg739Gln) single nucleotide variant protective rs121912429 15:99465391-99465391 15:98922162-98922162
9 IGF1 NM_001111283.3(IGF1): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs587779350 12:102813397-102813397 12:102419619-102419619
10 IGF1 IGF1, EX4-5DEL deletion Pathogenic
11 IGF1 IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A single nucleotide variant Pathogenic
12 IGF1 NM_001111283.3(IGF1): c.274G> A (p.Val92Met) single nucleotide variant Pathogenic rs121912430 12:102813415-102813415 12:102419637-102419637
13 IGF1R NM_000875.5(IGF1R): c.225C> T (p.Phe75=) single nucleotide variant Conflicting interpretations of pathogenicity rs55770488 15:99250921-99250921 15:98707692-98707692
14 IGF1R NM_000875.5(IGF1R): c.1950G> T (p.Arg650=) single nucleotide variant Conflicting interpretations of pathogenicity rs56294552 15:99459314-99459314 15:98916085-98916085
15 IGF1R NM_000875.5(IGF1R): c.*2426del deletion Conflicting interpretations of pathogenicity rs398028512 15:99503097-99503097 15:98959868-98959868
16 IGF1R NM_000875.5(IGF1R): c.*3199C> T single nucleotide variant Uncertain significance rs886051592 15:99503870-99503870 15:98960641-98960641
17 IGF1R NM_000875.5(IGF1R): c.*4521G> A single nucleotide variant Uncertain significance rs560705462 15:99505192-99505192 15:98961963-98961963
18 IGF1R NM_000875.5(IGF1R): c.*4599C> T single nucleotide variant Uncertain significance rs144947320 15:99505270-99505270 15:98962041-98962041
19 IGF1R NM_000875.5(IGF1R): c.*4761C> T single nucleotide variant Uncertain significance rs572204649 15:99505432-99505432 15:98962203-98962203
20 IGF1R NM_000875.5(IGF1R): c.*4815G> A single nucleotide variant Uncertain significance rs145781849 15:99505486-99505486 15:98962257-98962257
21 IGF1R NM_000875.5(IGF1R): c.*6568A> C single nucleotide variant Uncertain significance rs144178122 15:99507239-99507239 15:98964010-98964010
22 IGF1R NM_000875.5(IGF1R): c.1686G> A (p.Val562=) single nucleotide variant Uncertain significance rs2228531 15:99456369-99456369 15:98913140-98913140
23 IGF1R NM_000875.5(IGF1R): c.1828+11C> T single nucleotide variant Uncertain significance rs748082314 15:99456522-99456522 15:98913293-98913293
24 IGF1R NM_000875.5(IGF1R): c.2401A> G (p.Ile801Val) single nucleotide variant Uncertain significance rs750036855 15:99465576-99465576 15:98922347-98922347
25 IGF1R NM_000875.5(IGF1R): c.2745G> A (p.Ser915=) single nucleotide variant Uncertain significance rs757589571 15:99467876-99467876 15:98924647-98924647
26 IGF1R NM_000875.5(IGF1R): c.2989G> A (p.Glu997Lys) single nucleotide variant Uncertain significance rs755751237 15:99478085-99478085 15:98934856-98934856
27 IGF1R NM_000875.5(IGF1R): c.3950C> G (p.Pro1317Arg) single nucleotide variant Uncertain significance rs775531453 15:99500517-99500517 15:98957288-98957288
28 IGF1R NM_000875.5(IGF1R): c.4045A> G (p.Met1349Val) single nucleotide variant Uncertain significance rs774314535 15:99500612-99500612 15:98957383-98957383
29 IGF1R NM_000875.5(IGF1R): c.*6581G> A single nucleotide variant Uncertain significance rs529311642 15:99507252-99507252 15:98964023-98964023
30 IGF1R NM_000875.5(IGF1R): c.*6746T> G single nucleotide variant Uncertain significance rs147783766 15:99507417-99507417 15:98964188-98964188
31 IGF1R NM_000875.5(IGF1R): c.*6770A> T single nucleotide variant Uncertain significance rs3825952 15:99507441-99507441 15:98964212-98964212
32 IGF1R NM_000875.5(IGF1R): c.*6974A> G single nucleotide variant Uncertain significance rs886051632 15:99507645-99507645 15:98964416-98964416
33 IGF1R NM_000875.5(IGF1R): c.-43T> C single nucleotide variant Uncertain significance rs768733704 15:99192768-99192768 15:98649539-98649539
34 IGF1R NM_000875.5(IGF1R): c.1462+15C> G single nucleotide variant Uncertain significance rs34313885 15:99452143-99452143 15:98908914-98908914
35 IGF1R NM_000875.5(IGF1R): c.*54dup duplication Uncertain significance rs542573464 15:99500725-99500725 15:98957496-98957496
36 IGF1R NM_000875.5(IGF1R): c.*134C> T single nucleotide variant Uncertain significance rs55945252 15:99500805-99500805 15:98957576-98957576
37 IGF1R NM_000875.5(IGF1R): c.*447C> T single nucleotide variant Uncertain significance rs555948484 15:99501118-99501118 15:98957889-98957889
38 IGF1R NM_000875.5(IGF1R): c.*1155_*1156insGT insertion Uncertain significance rs886051572 15:99501826-99501827 15:98958597-98958598
39 IGF1R NM_000875.5(IGF1R): c.*1228G> A single nucleotide variant Uncertain significance rs187193143 15:99501899-99501899 15:98958670-98958670
40 IGF1R NM_000875.5(IGF1R): c.*1360T> A single nucleotide variant Uncertain significance rs564068661 15:99502031-99502031 15:98958802-98958802
41 IGF1R NM_000875.5(IGF1R): c.*1600A> G single nucleotide variant Uncertain significance rs181790105 15:99502271-99502271 15:98959042-98959042
42 IGF1R NM_000875.5(IGF1R): c.*1753_*1754AT[3] short repeat Uncertain significance rs760831806 15:99502430-99502435 15:98959201-98959206
43 IGF1R NM_000875.5(IGF1R): c.*1897G> A single nucleotide variant Uncertain significance rs534336774 15:99502568-99502568 15:98959339-98959339
44 IGF1R NM_000875.5(IGF1R): c.*1991G> A single nucleotide variant Uncertain significance rs567057800 15:99502662-99502662 15:98959433-98959433
45 IGF1R NM_000875.5(IGF1R): c.*2610_*2613del deletion Uncertain significance rs773179244 15:99503281-99503284 15:98960052-98960055
46 IGF1 NM_001111283.3(IGF1): c.*2396A> G single nucleotide variant Uncertain significance rs886048884 12:102793923-102793923 12:102400145-102400145
47 IGF1 NM_001111283.3(IGF1): c.*2229G> A single nucleotide variant Uncertain significance rs886048885 12:102794090-102794090 12:102400312-102400312
48 IGF1 NM_001111283.3(IGF1): c.*1787C> A single nucleotide variant Uncertain significance rs5742703 12:102794532-102794532 12:102400754-102400754
49 IGF1 NM_001111283.3(IGF1): c.*1067A> G single nucleotide variant Uncertain significance rs886048888 12:102795252-102795252 12:102401474-102401474
50 IGF1 NM_001111283.3(IGF1): c.*4733C> G single nucleotide variant Uncertain significance rs886048867 12:102791586-102791586 12:102397808-102397808

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

74
# Symbol AA change Variation ID SNP ID
1 IGF1R p.Arg138Gln VAR_034891 rs121912426
2 IGF1R p.Lys145Asn VAR_034892 rs121912427
3 IGF1R p.Arg739Gln VAR_034895 rs121912429
4 IGF1R p.Asn359Tyr VAR_076247
5 IGF1R p.Tyr865Cys VAR_076248
6 IGF1R p.Arg1256Ser VAR_076249
7 IGF1R p.Arg1337Cys VAR_076250 rs141802822

Expression for Insulin-Like Growth Factor I

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

Pathways for Insulin-Like Growth Factor I

Pathways related to Insulin-Like Growth Factor I according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Oocyte meiosis hsa04114
3 Focal adhesion hsa04510
4 Adherens junction hsa04520
5 Long-term depression hsa04730
6 Progesterone-mediated oocyte maturation hsa04914

Pathways related to Insulin-Like Growth Factor I according to GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 ITGB3 ITGAV ITGA6 INSR INS IGF2
2
Show member pathways
13.95 ITGB3 ITGAV ITGA6 IRS1 INSR IGF2
3
Show member pathways
13.89 INS IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2
4
Show member pathways
13.81 ITGB3 ITGAV ITGA6 INSR IGF2 IGF1R
5
Show member pathways
13.55 ITGB3 ITGAV ITGA6 IRS1 INSR INS
6
Show member pathways
13.5 ITGB3 ITGAV ITGA6 IRS1 INSR IGF2
7
Show member pathways
13.39 ITGB3 ITGAV ITGA6 IGF2 IGF1 AKT2
8
Show member pathways
13.31 IRS1 IGF2 IGF1R IGF1 GHR GH1
9
Show member pathways
13.18 ITGB3 ITGAV ITGA6 IGF2 IGF1R IGF1
10
Show member pathways
13.16 IRS1 INSR INS IGF2 IGF1R IGF1
11
Show member pathways
13.09 ITGB3 ITGAV ITGA6 INSR IGF2 IGF1R
12
Show member pathways
13.03 IRS1 IGF2 IGF1R IGF1 AKT2 AKT1
13
Show member pathways
13.01 ITGB3 ITGAV ITGA6 IGF1R IGF1 AKT2
14
Show member pathways
12.96 IRS1 INS IGF1R IGF1 AKT2 AKT1
15 12.96 ITGAV ITGA6 IGF2 IGF1R IGF1 AKT2
16
Show member pathways
12.93 ITGB3 ITGAV ITGA6 IRS1 INSR INS
17 12.88 INSR INS IGF2 IGF1R IGF1 AKT2
18
Show member pathways
12.88 IRS1 INSR INS IGFBP3 IGF1R IGF1
19
Show member pathways
12.87 IGF2 IGF1R IGF1 AKT2 AKT1
20
Show member pathways
12.85 IRS1 INSR INS AKT2 AKT1
21
Show member pathways
12.85 ITGB3 INSR INS IGF2 IGF1R IGF1
22
Show member pathways
12.83 IGF2 IGF1R IGF1 AKT2 AKT1
23
Show member pathways
12.81 ITGB3 ITGAV ITGA6 IRS1 INSR IGF2
24
Show member pathways
12.8 IRS1 INSR INS AKT2 AKT1
25
Show member pathways
12.8 ITGB3 ITGAV ITGA6 IRS1 INSR INS
26
Show member pathways
12.77 IRS1 IGF1R IGF1 AKT2 AKT1
27
Show member pathways
12.67 IRS1 IGF1R IGF1 AKT2 AKT1
28
Show member pathways
12.66 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
29
Show member pathways
12.65 IRS1 INSR INS IGF1R AKT2 AKT1
30
Show member pathways
12.64 IRS1 INSR INS IGF1R IGF1 AKT2
31
Show member pathways
12.58 IRS1 INS GH1 AKT2 AKT1
32
Show member pathways
12.56 IRS1 INSR INS IGF1R IGF1 AKT2
33
Show member pathways
12.54 ITGAV INSR IGF1R AKT2 AKT1
34
Show member pathways
12.53 ITGAV ITGA6 IRS1 AKT1
35
Show member pathways
12.52 ITGB3 ITGAV ITGA6 INSR IGF2 IGF1R
36
Show member pathways
12.5 IGF1R GHR GH1 AKT2 AKT1
37
Show member pathways
12.47 INSR INS AKT2 AKT1
38
Show member pathways
12.46 ITGB3 ITGAV AKT2 AKT1
39
Show member pathways
12.46 INS IGF1R IGF1 AKT2 AKT1
40
Show member pathways
12.46 IRS1 INSR IGF1R IGF1 AKT2 AKT1
41 12.46 IRS1 INSR INS IGFBP3 IGFBP2 IGFBP1
42 12.4 ITGB3 ITGAV IGF2 IGF1R IGF1 AKT2
43
Show member pathways
12.38 IRS1 IGF1R IGF1 AKT2 AKT1
44
Show member pathways
12.36 IGF2 IGF1R IGF1 GH1 AKT1
45
Show member pathways
12.34 IRS1 INSR INS AKT2 AKT1
46
Show member pathways
12.34 ITGB3 ITGAV ITGA6 INSR IGF1R AKT2
47
Show member pathways
12.33 ITGB3 ITGAV ITGA6 IGF1
48
Show member pathways
12.31 ITGB3 ITGAV AKT2 AKT1
49
Show member pathways
12.26 IGF1R IGF1 AKT2 AKT1
50
Show member pathways
12.26 INSR IGF1R AKT2 AKT1

GO Terms for Insulin-Like Growth Factor I

Cellular components related to Insulin-Like Growth Factor I according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.88 INS IGFBP5 IGFBP4 IGFBP3 IGFBP1
2 receptor complex GO:0043235 9.83 ITGB3 INSR IGF1R GHR
3 ruffle membrane GO:0032587 9.71 ITGB3 ITGAV AKT2
4 integrin complex GO:0008305 9.63 ITGB3 ITGAV ITGA6
5 alphav-beta3 integrin-PKCalpha complex GO:0035866 9.51 ITGB3 ITGAV
6 alphav-beta3 integrin-HMGB1 complex GO:0035868 9.49 ITGB3 ITGAV
7 integrin alphav-beta3 complex GO:0034683 9.43 ITGB3 ITGAV
8 insulin receptor complex GO:0005899 9.43 IRS1 INSR IGF1R
9 growth hormone receptor complex GO:0070195 9.4 GHR GH1
10 insulin-like growth factor ternary complex GO:0042567 9.33 IGFBP5 IGFBP3 IGF1
11 insulin-like growth factor binding protein complex GO:0016942 9.13 IGFBP5 IGFBP3 IGF1
12 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 8.92 ITGB3 ITGAV IGF1R IGF1
13 extracellular region GO:0005576 10.11 INS IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2
14 extracellular space GO:0005615 10.06 INS IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2

Biological processes related to Insulin-Like Growth Factor I according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.99 IGFBP5 IGFBP2 IGFBP1 AKT1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.97 IGFBP6 IGFBP4 IGFBP2 IGFBP1
3 osteoblast differentiation GO:0001649 9.96 IGFBP5 IGFBP3 IGF2 AKT1
4 cellular response to insulin stimulus GO:0032869 9.96 IRS1 INSR GHR AKT2 AKT1
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.95 ITGB3 IGF2 IGF1 GHR GH1
6 positive regulation of MAPK cascade GO:0043410 9.95 INSR INS IGFBP4 IGFBP3 IGF2 IGF1
7 regulation of growth GO:0040008 9.93 IGFBP5 IGFBP4 IGFBP3 IGFBP2
8 integrin-mediated signaling pathway GO:0007229 9.91 ITGB3 ITGAV ITGA6
9 cell-matrix adhesion GO:0007160 9.91 ITGB3 ITGAV ITGA6
10 positive regulation of protein phosphorylation GO:0001934 9.91 ITGB3 INSR IGF2 AKT2 AKT1
11 glucose homeostasis GO:0042593 9.91 IRS1 INSR INS IGFBP5 IGF1R AKT1
12 positive regulation of cell growth GO:0030307 9.9 INS IGFBP1 AKT1
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.89 INS IGF1 GH1
14 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.88 IGF1 GHR GH1
15 cellular response to organic cyclic compound GO:0071407 9.88 ITGA6 IGFBP5 AKT1
16 activation of protein kinase B activity GO:0032148 9.88 INSR INS IGF1 AKT1
17 phosphatidylinositol 3-kinase signaling GO:0014065 9.87 IRS1 IGF1R IGF1 AKT1
18 phosphatidylinositol-mediated signaling GO:0048015 9.86 IRS1 IGF1R IGF1
19 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.85 ITGAV ITGA6 IGF1
20 positive regulation of multicellular organism growth GO:0040018 9.84 IGF2 GHR GH1
21 positive regulation of mitotic nuclear division GO:0045840 9.84 INSR INS IGF2 IGF1
22 positive regulation of activated T cell proliferation GO:0042104 9.83 IGFBP2 IGF2 IGF1
23 positive regulation of glycolytic process GO:0045821 9.81 INSR INS IGF1
24 cellular protein metabolic process GO:0044267 9.81 INS IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2
25 cell-substrate adhesion GO:0031589 9.8 ITGB3 ITGAV ITGA6
26 glucose metabolic process GO:0006006 9.8 INS IGF2 AKT2 AKT1
27 positive regulation of insulin receptor signaling pathway GO:0046628 9.79 IRS1 INS IGF2
28 striated muscle cell differentiation GO:0051146 9.79 IGFBP5 IGF2 AKT1
29 response to growth hormone GO:0060416 9.77 IGFBP5 GHR AKT1
30 positive regulation of glucose metabolic process GO:0010907 9.77 IRS1 AKT2 AKT1
31 insulin-like growth factor receptor signaling pathway GO:0048009 9.77 IRS1 IGF1R IGF1 GHR AKT1
32 type B pancreatic cell proliferation GO:0044342 9.76 IGFBP5 IGFBP4 IGFBP3
33 negative regulation of smooth muscle cell migration GO:0014912 9.73 IGFBP5 IGFBP3
34 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902176 9.73 INS AKT1
35 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.73 ITGB3 ITGAV
36 mammary gland epithelial cell differentiation GO:0060644 9.73 AKT2 AKT1
37 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.73 GHR GH1
38 positive regulation of glucose import GO:0046326 9.73 IRS1 INSR INS IGF1 AKT2 AKT1
39 growth hormone receptor signaling pathway GO:0060396 9.72 GHR GH1
40 amyloid-beta clearance GO:0097242 9.72 INSR IGF1R
41 positive regulation of mitochondrial membrane potential GO:0010918 9.72 AKT2 AKT1
42 positive regulation of fatty acid beta-oxidation GO:0032000 9.72 IRS1 AKT2
43 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.72 IGFBP5 IGFBP4 IGFBP3 IGF1 GH1
44 neuron projection maintenance GO:1990535 9.71 INSR INS
45 dendritic spine maintenance GO:0097062 9.71 INSR IGF1R
46 negative regulation of lipid storage GO:0010888 9.71 ITGB3 ITGAV
47 peripheral nervous system myelin maintenance GO:0032287 9.7 AKT2 AKT1
48 exocrine pancreas development GO:0031017 9.7 INSR IGF2
49 positive regulation of respiratory burst GO:0060267 9.7 INSR INS
50 regulation of cell growth GO:0001558 9.7 IGFBP5 IGFBP4 IGFBP3

Molecular functions related to Insulin-Like Growth Factor I according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.97 ITGAV IGFBP6 IGFBP4 IGFBP2 IGFBP1
2 integrin binding GO:0005178 9.83 ITGB3 ITGAV IGF2 IGF1
3 fibronectin binding GO:0001968 9.8 ITGB3 ITGAV IGFBP6 IGFBP5 IGFBP3
4 growth factor binding GO:0019838 9.8 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
5 hormone activity GO:0005179 9.78 INS IGF2 IGF1 GH1
6 insulin receptor binding GO:0005158 9.77 IRS1 INS IGF2 IGF1R IGF1
7 protein kinase C binding GO:0005080 9.72 ITGAV IRS1 AKT1
8 insulin-like growth factor receptor binding GO:0005159 9.72 IRS1 INSR INS IGF2 IGF1
9 insulin-like growth factor II binding GO:0031995 9.7 INSR IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2
10 phosphatidylinositol 3-kinase binding GO:0043548 9.63 IRS1 INSR IGF1R
11 neuregulin binding GO:0038132 9.61 ITGB3 ITGAV ITGA6
12 insulin receptor substrate binding GO:0043560 9.58 INSR IGF1R
13 insulin binding GO:0043559 9.56 INSR IGF1R
14 C-X3-C chemokine binding GO:0019960 9.54 ITGB3 ITGAV
15 insulin-activated receptor activity GO:0005009 9.51 INSR IGF1R
16 insulin-like growth factor binding GO:0005520 9.5 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
17 insulin-like growth factor I binding GO:0031994 9.36 ITGB3 ITGAV ITGA6 INSR IGFBP6 IGFBP5
18 protein binding GO:0005515 10.45 ITGB3 ITGAV ITGA6 IRS1 INSR INS

Sources for Insulin-Like Growth Factor I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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