MCID: INS024
MIFTS: 82

Insulin-Like Growth Factor I

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Neuronal diseases, Ear diseases, Mental 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 75 37 29 6 73
Igf1 Deficiency 57 53 75 55
Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 57 13 40
Insulin-Like Growth Factor I, Resistance to 57 13 73
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 75
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 75
Somatomedin, End-Organ Insensitivity to 57
Insulin-Like Growth Factor 1 Resistance 75
Insulin-Like Growth Factor I Resistance 6
Somatomedin End-Organ Insensitivity to 53
End-Organ Insensitivity to Somatomedin 75
Somatomedin-C, Resistance to 57
Somatomedin-C Resistance to 53
Resistance to Somatomedin-C 75
Resistance to Igf-1 59
Igf-1 Resistance 53
Igf-1 Deficiency 59
Igf1 Resistance 75
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance

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


Classifications:

Orphanet: 59  
Rare endocrine diseases


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: 73273Disease definitionGrowth 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 dominanttrait. 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 Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and lung, and related phenotypes are pectus excavatum and clinodactyly

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a protein that in humans is encoded... 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 320)
# Related Disease Score Top Affiliating Genes
1 acid-labile subunit deficiency 33.6 IGF1 IGF2 IGFBP3
2 laron syndrome 33.5 GH1 GHR IGF1 IGF2 IGFBP3
3 growth hormone deficiency 32.1 GH1 IGF1 IGFBP3
4 polycystic ovary syndrome 31.7 IGF1 IGFBP1 INS INSR
5 acromegaly 31.5 GH1 GHR IGF1 IGF2 IGFBP1 IGFBP3
6 hyperandrogenism 31.3 IGF1 IGFBP1 INS INSR
7 glucose intolerance 31.2 IGF1 IGFBP1 INS INSR
8 isolated growth hormone deficiency 31.2 GH1 GHR IGF1
9 secondary adrenal insufficiency 31.2 IGF1 IGFBP3 INS
10 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 31.2 IGF1 IGFBP3 INS INSR
11 silver-russell syndrome 31.1 IGF1 IGF2 IGFBP1 IGFBP3
12 craniopharyngioma 31.1 GH1 IGF1 INS
13 turner syndrome 31.1 GH1 GHR IGF1 IGFBP1 IGFBP3
14 anorexia nervosa 31.1 GH1 GHR IGF1 IGFBP1 IGFBP2 IGFBP3
15 hypopituitarism 30.9 GH1 IGF1 IGFBP3 INS
16 ovarian disease 30.9 IGF1 IGFBP1 INS
17 osteoporosis 30.9 GH1 GHR IGF1 IGFBP3 IGFBP4 IGFBP5
18 fetal macrosomia 30.7 IGF1 IGF2 IGFBP3 INS INSR
19 hyperinsulinism 30.4 GH1 IGF1 IGFBP1 IGFBP3 INS INSR
20 prader-willi syndrome 30.4 GH1 GHR IGF1 IGF2 IGFBP1 IGFBP3
21 diabetes mellitus 30.1 AKT1 AKT2 IGF1 IGFBP1 INS INSR
22 endometrial cancer 29.8 AKT1 AKT2 IGF1 IGF1R IGFBP1 INS
23 diabetes mellitus, noninsulin-dependent 29.2 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
24 prostate cancer 29.1 AKT1 AKT2 IGF1 IGF1R IGF2 IGFBP2
25 growth hormone insensitivity with immunodeficiency 11.5
26 growth factors, combined defect of 11.4
27 kowarski syndrome 11.2
28 insulin autoimmune syndrome 11.0 INS INSR
29 slipped capital femoral epiphysis 11.0 IGF1 IGFBP3
30 pituitary adenoma 1, multiple types 11.0 GH1 IGF1 IGFBP3
31 isolated growth hormone deficiency, type ib 11.0 GH1 IGF1 IGFBP3
32 malignant ovarian cyst 10.9 IGF1 IGFBP2
33 fasting hypoglycemia 10.9 IGF1 IGF2 INSR
34 isolated growth hormone deficiency, type ii 10.9 GH1 GHR IGF1
35 complete androgen insensitivity syndrome 10.9 IGF2 IGFBP2 IGFBP3
36 rubeosis iridis 10.9 IGF1 IGF2 INS
37 endocrine pancreas disease 10.9 IGF1 IGF2 INS
38 pituitary hormone deficiency, combined, 2 10.9 GH1 GHR IGF1
39 anovulation 10.9 IGF1 IGFBP1 INS
40 pancreas disease 10.9 IGF1 IGF2 INS
41 donohue syndrome 10.8 IGF1 IGF1R INS INSR
42 pituitary gland disease 10.8 GH1 IGF1 INS
43 acanthosis nigricans 10.8 IGF1 IGF1R INS INSR
44 breast cancer 10.8
45 gonadal disease 10.8 GH1 IGF1 INS
46 prostatitis 10.8
47 non-functioning pituitary adenoma 10.7 GH1 GHR
48 aging 10.7
49 hyperpituitarism 10.7 GH1 GHR IGF1 IGFBP3 INS
50 male reproductive organ cancer 10.7 AKT1 IGF1 IGFBP3

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

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
Skeletal:
delayed bone age

Growth Weight:
low weight

Chest External Features:
pectus excavatum (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 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 Nose:
broad nasal bridge

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

Skeletal Feet:
small feet
sandal gap (recessive)

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)

Chest Breasts:
widely spaced nipples (rare)

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

Human phenotypes related to Insulin-Like Growth Factor I:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 clinodactyly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0030084
3 ptosis 59 32 Occasional (29-5%) HP:0000508
4 intellectual disability 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001249
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0002750
7 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
8 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000252
10 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
11 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
12 short stature 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
13 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
14 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
15 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
16 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
17 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
18 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
19 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
20 concave nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0011120
21 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
22 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
23 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
24 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
25 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
26 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
27 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
28 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
29 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
30 low anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0000294
31 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
32 congenital sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008527
33 motor delay 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001270
34 truncal obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001956
35 severe postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008850
36 hyperactivity 59 32 Very frequent (99-80%) HP:0000752
37 single transverse palmar crease 59 32 occasional (7.5%) Occasional (29-5%) HP:0000954
38 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
39 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
40 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
41 small for gestational age 59 32 hallmark (90%) Very frequent (99-80%) HP:0001518
42 small placenta 59 32 frequent (33%) Frequent (79-30%) HP:0006266
43 bilateral sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008619
44 neonatal hyperbilirubinemia 59 32 frequent (33%) Frequent (79-30%) HP:0003265
45 short attention span 59 32 Very frequent (99-80%) HP:0000736
46 prelingual sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000399
47 congenital bilateral ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007911
48 osteopenia 32 HP:0000938
49 behavioral abnormality 59 Very frequent (99-80%)
50 delayed speech and language development 32 HP:0000750

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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.54 ITGB3
2 Decreased viability GR00221-A-1 10.54 INSR INSRR AKT1 IGF1R AKT2
3 Decreased viability GR00221-A-2 10.54 INSR ITGAV ITGB3 AKT1 IGF1R
4 Decreased viability GR00221-A-3 10.54 INSR AKT1 IGF1R AKT2
5 Decreased viability GR00221-A-4 10.54 INSR ITGB3 AKT1 AKT2
6 Decreased viability GR00301-A 10.54 INSRR IGF1R AKT2
7 Decreased viability GR00342-S-2 10.54 IGF1R
8 Decreased viability GR00342-S-3 10.54 AKT2
9 Decreased viability GR00381-A-1 10.54 ITGAV
10 Decreased viability GR00402-S-2 10.54 INSR INSRR ITGAV ITGB3 AKT1 IGF1R
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.19 GH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.19 INSR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.19 IGF1R
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.19 IGF1R
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 10.19 GH1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.19 INSR
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.19 INSR AKT1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.19 AKT2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.19 INSR
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.19 AKT2 INSR GH1 IGF1R AKT1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.19 INSR
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.19 IGF1R
23 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.72 ITGA6 ITGAV ITGB3 IGF1R AKT2
24 Increased cell death HMECs cells GR00103-A-0 9.43 ITGAV IGFBP4 IGFBP6 INS INSR IGF1R
25 Increased cell viability after pRB stimulation GR00230-A-1 8.92 IGF1R AKT2 INSR AKT1

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

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 IGF2 IGF1R IGFBP3 IGFBP4 INSR IGFBP5
2 cardiovascular system MP:0005385 10.35 IGF1R IGFBP2 IGFBP3 IGF2 INSR INS
3 endocrine/exocrine gland MP:0005379 10.35 IGF1R IGFBP3 IGF2 INSR IGFBP4 IGFBP5
4 cellular MP:0005384 10.34 IGF1 IGF2 IGFBP1 IGF1R INSR INS
5 homeostasis/metabolism MP:0005376 10.34 IGF2 IGF1R IGF1 IGFBP4 INSR IGFBP5
6 hematopoietic system MP:0005397 10.29 IGF1 IGF2 IGF1R IGFBP2 INSR INS
7 immune system MP:0005387 10.29 IGF2 IGFBP1 IGF1R IGFBP2 INSR INS
8 adipose tissue MP:0005375 10.27 IGF1R IGFBP3 INSR IGFBP4 IGFBP5 INS
9 muscle MP:0005369 10.22 IGF1R IGFBP3 IGF2 IGFBP4 IGFBP5 INS
10 liver/biliary system MP:0005370 10.17 IGF1R IGFBP1 IGFBP2 IGFBP3 IGF2 INSR
11 integument MP:0010771 10.16 IGF2 IGF1R INS ITGA6 IGFBP3 AKT1
12 embryo MP:0005380 10.15 IGF2 IGF1R INS AKT1 GHR ITGAV
13 nervous system MP:0003631 10.06 IGF1 IGF2 IGF1R INSR INS AKT1
14 renal/urinary system MP:0005367 10 IGFBP2 IGFBP3 IGF2 INSR INS INSRR
15 neoplasm MP:0002006 9.91 IGF1 IGF1R AKT1 AKT2 ITGAV ITGB3
16 reproductive system MP:0005389 9.85 IGF1 IGF2 IGF1R INSR INSRR INS
17 respiratory system MP:0005388 9.61 IGF2 IGF1R IGF1 INSR ITGA6 IGFBP3
18 skeleton MP:0005390 9.28 IGF1 IGF2 IGF1R IGFBP3 INS AKT2

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 555)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4,Phase 2,Phase 3 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 979-32-8
4
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 28014-46-2
5
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83150-76-9 383414 6400441
6
Zinc Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 7440-66-6 23994
7
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 657-24-9 14219 4091
8
Tibolone Approved, Investigational Phase 4 5630-53-5
9 lanreotide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 108736-35-2
10
Somatostatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
11
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
12
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable 51-61-6, 62-31-7 681
13
Fosinopril Approved Phase 4 98048-97-6 55891
14
Sodium oxybate Approved Phase 4 502-85-2 5360545
15
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1 58-18-4 6010
16
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0 6013
17
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1 315-37-7 9416
18
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 5949-44-0
19
Insulin Aspart Approved Phase 4 116094-23-6 16132418
20
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
21
Liraglutide Approved Phase 4,Phase 2 204656-20-2 44147092
22
Verapamil Approved Phase 4 52-53-9 2520
23
Ranibizumab Approved Phase 4 347396-82-1 459903
24
Anastrozole Approved, Investigational Phase 4,Phase 2,Not Applicable 120511-73-1 2187
25
Ethinyl Estradiol Approved Phase 4,Phase 2,Phase 3 57-63-6 5991
26
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 51-43-4 5816
27
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 329-65-7 838
28
Insulin Detemir Approved Phase 4,Phase 3 169148-63-4 5311023
29
Citalopram Approved Phase 4 59729-33-8 2771
30
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
31
Letrozole Approved, Investigational Phase 4,Phase 2 112809-51-5 3902
32
Pravastatin Approved Phase 4 81093-37-0 54687
33
Desogestrel Approved Phase 4 54024-22-5 40973
34
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
35
Norelgestromin Approved, Investigational Phase 4 53016-31-2 13752005
36
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
37
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
38
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 53-43-0 9860744
39 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
40 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Imatinib Mesylate Phase 4 220127-57-1 123596
43 Adrenergic Agents Phase 4,Phase 2,Phase 3
44 Adrenergic Agonists Phase 4,Phase 2,Phase 3
45 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2,Phase 3
46 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3
47 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
49 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 863)
# Name Status NCT ID Phase Drugs
1 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4 Growth Hormone
2 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
3 Growth Hormone Feedback to Insulin-like Growth Factor-I (IGF-1) and Oral Glucose Tolerance Test (OGTT) Unknown status NCT00915954 Phase 4
4 Effects of Sandostatin LAR® in Acromegaly Unknown status NCT01424241 Phase 4 Sandostatin LAR
5 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
6 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
7 Changes of Left Ventricular Mass and Cardiac Function in Patients With Active Acromegaly During Treatment With the Growth Hormone Receptor Antagonist Pegvisomant Unknown status NCT00552851 Phase 4 pegvisomant
8 The Effect of a Higher Dose of Dehydroepiandrosterone (DHEA) Supplementation in Poor Responders Unknown status NCT02357472 Phase 4 dehydroepiandrosterone
9 Effect of Omega-3 Supplementation on Serum Level and Gene Expression of IGF-1and IGFBP-3 in Men With CVD. Completed NCT02092584 Phase 4
10 The Effect of Ophiocephalus Striatus Extract on Levels of IGF-1, Albumin, and MNA Score in Elderly With Malnutrition Completed NCT03065595 Phase 4
11 IGF1 Generation Test Completed NCT00145457 Phase 4
12 A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood Completed NCT00212758 Phase 4 Nutropin AQ
13 Study to Compare the Effect of Hormone Replacement Therapy (HRT) on Breast and Cardiovascular Metabolic Markers in Postmenopausal Women Completed NCT00145522 Phase 4 17ß-Estradiol/Dydrogesterone;Tibolone
14 Study to Assess the Efficacy of an Extended Injection Interval Schedule of Lanreotide Autogel in Acromegalic Subjects Completed NCT00701363 Phase 4 Lanreotide Autogel 120 mg
15 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
16 Predictive Markers in Chinese Growth Hormone Deficiency (GHD) Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
17 Efficacy of Octreotide Acetate and Cabergoline in Patients With Acromegaly Completed NCT00376064 Phase 4 Octreotide acetate and cabergoline/Octrotide and Somavert
18 Canadian Pegvisomant Compassionate Study In Acromegalic Patients Completed NCT00151437 Phase 4 Pegvisomant treatment
19 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 Completed NCT01278342 Phase 4 Sandostatin LAR;pegvisomant;cabergoline
20 Lanreotide Autogel in Patients With Acromegaly Previously Treated With Octreotide LAR Completed NCT00216398 Phase 4 Lanreotide (Autogel formulation)
21 Angiotensin-converting Enzyme (ACE)-Inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01014338 Phase 4 Fosinopril
22 Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target Completed NCT01618513 Phase 4 Sandostatin® LAR
23 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
24 A Study To Compare The Efficacy And Safety Of Pegvisomant To That Of Sandostatin Lar Depot In Patients With Acromegaly Completed NCT00068042 Phase 4 Pegvisomant;Sandostatin LAR
25 Dehydroepiandrosterone (DHEA)Supplementation Pre-IVF(In Vitro Fertilization) Cycles Completed NCT02866253 Phase 4 DHEA
26 Exploratory Clinical Study to Evaluate Sodium Oxybate (Xyrem) on Potential Endocrine Changes Completed NCT00345800 Phase 4 Sodium Oxybate (Xyrem)
27 An Open-label Phase 4 Study to Explore Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
28 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Completed NCT02311894 Phase 4 Somatropin
29 Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
30 Anabolic and Inflammatory Responses to Short-Term Testosterone Administration in Older Men Completed NCT00957801 Phase 4 Testosterone injection;Testosterone gel;Medrol
31 Insulin-like Growth Factor (IGF-I) in Hemodialysis Patients Completed NCT01209403 Phase 4 Glucose-infusion;Glucose-insulin infusion
32 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4 somatropin;placebo
33 Somatuline Autogel: Acromegaly Self/Partner Injection Study Completed NCT00149188 Phase 4 Lanreotide (Autogel formulation)
34 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
35 Treatment of Hypoglycemia Following Gastric Bypass Surgery Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
36 Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment. Completed NCT01972789 Phase 4 Ranibizumab
37 Hormonal Outcomes in Acromegalic Patients With Treated Surgery With or Without Long Acting Somatostatin Analogues Recruiting NCT02427295 Phase 4 Sandostatin (Octreotide Acetate)
38 Cognitive Dysfunction in MDD Patients Recruiting NCT03187093 Phase 4 Vortioxetine;Escitalopram
39 Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Recruiting NCT02908958 Phase 4
40 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT02976675 Phase 4
41 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency Recruiting NCT03249480 Phase 4
42 Aromatase Inhibitor Growth Study: Letrozole vs. Anastrozole Recruiting NCT02137538 Phase 4 Letrozole;Anastrozole
43 Extension Study of Pegylated Somatropin to Treat Growth Retardation Caused by Endogenous Growth Hormone Deficiency in Children Recruiting NCT03290235 Phase 4 PEG-somatropin
44 The Statins on Glucose Homeostasis in Subjects With Impaired Fasting Glucose Recruiting NCT01816997 Phase 4 Pravastatin;Rosuvastatin;Control
45 Effects of Oral vs. Non-oral Contraceptives on the GH/IGF-1 Axis Active, not recruiting NCT02367833 Phase 4 Combined Oral Contraceptive;Transdermal Contraceptive;Contraceptive Vaginal Ring
46 Pasireotide LAR and Pegvisomant Study in Acromegaly Active, not recruiting NCT02668172 Phase 4 Pasireotide LAR 60 mg;Pegvisomant
47 Assessing the Impact of Contraceptives on Bone Health Using 41Ca Active, not recruiting NCT02367846 Phase 4 Combined Oral Contraceptive (COC);Contraceptive Vaginal Ring (CVR)
48 The Health Influences of Puberty (HIP) Study Active, not recruiting NCT01775813 Phase 4 Metformin
49 LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD Not yet recruiting NCT02568020 Phase 4 keto-amino acids
50 Xenon-anesthesia on Patients Undergoing Major Liver-resection Not yet recruiting NCT03504033 Phase 4 Xenon;Desflurane

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, Prostate, Lung, Liver, Pituitary, Heart, Endothelial

Publications for Insulin-Like Growth Factor I

Articles related to Insulin-Like Growth Factor I:

(show top 50) (show all 2706)
# Title Authors Year
1
Associations of insulin-like growth factor-I and insulin-like growth factor binding protein-3 with bone quality in the general adult population. ( 29498081 )
2018
2
Factors correlated with serum insulin-like growth factor-I levels in health check-up subjects. ( 29395967 )
2018
3
Pre-diagnostic circulating insulin-like growth factor-I and bladder cancer risk in the European Prospective Investigation into Cancer and Nutrition. ( 29971779 )
2018
4
The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders. ( 29724795 )
2018
5
Targeting Insulin-Like Growth Factor-I and Extracellular Matrix Interactions in Melanoma Progression. ( 29330502 )
2018
6
Deficiency of liver-derived insulin-like growth factor-I (IGF-I) does not interfere with the skin wound healing rate. ( 29534073 )
2018
7
Correlation of Insulin-Like Growth Factor-I and -II Concentrations at Birth Measured by Mass Spectrometry and Growth from Birth to Two Months. ( 29402777 )
2018
8
For Debate: Combination Growth Hormone and Insulin-Like Growth Factor-I Therapy for Childhood Growth Disorders: Prime Time or Too Much Dime? ( 29493124 )
2018
9
Bioresponsive release of insulin-like growth factor-I from its PEGylated conjugate. ( 29634992 )
2018
10
Influence of ad libitum milk replacer feeding and butyrate supplementation on the systemic and hepatic insulin-like growth factor I and its binding proteins in Holstein calves. ( 29248211 )
2018
11
New advances in understanding thyroid-associated ophthalmopathy and the potential role for insulin-like growth factor-I receptor. ( 29744034 )
2018
12
Fucoidan downregulates insulin-like growth factor-I receptor levels in HT-29 human colon cancer cells. ( 29328495 )
2018
13
Association of body weight gain with muscle, fat, and liver expression levels of growth hormone receptor, insulin-like growth factor I, and beta-adrenergic receptor mRNAs in steers. ( 29730537 )
2018
14
Intermittent hypoxia suppression of growth hormone and insulin-like growth factor-I in the neonatal rat liver. ( 29544682 )
2018
15
A longitudinal study of serum insulin-like growth factor-I levels over 6 years in a large cohort of children and adolescents with type 1 diabetes mellitus: A marker reflecting diabetic retinopathy. ( 29663652 )
2018
16
Serum insulin-like growth factor-I levels are associated with improved white matter recovery after traumatic brain injury. ( 28574152 )
2017
17
Insulin-like growth factor-I induces chemoresistence to docetaxel by inhibiting miR-143 in human prostate cancer. ( 29291019 )
2017
18
Feeling misguided: a comment on the US guidelines on growth hormone and insulin-like growth factor-I treatment in children and adolescents. ( 28604412 )
2017
19
A Coordinated Action of Blood-Borne and Brain Insulin-Like Growth Factor I in the Response to Traumatic Brain Injury. ( 28449086 )
2017
20
Serum reference value of two potential doping candidates-myostatin and insulin-like growth factor-I in the healthy young male. ( 28077934 )
2017
21
Effect of pre- and postpartum supplementation with lipid-encapsulated conjugated linoleic acid on reproductive performance and the growth hormone-insulin-like growth factor-I axis in multiparous high-producing dairy cows. ( 28456404 )
2017
22
Rejuvenating Effect of Long-Term Insulin-Like Growth Factor-I Gene Therapy in the Hypothalamus of Aged Rats with Dopaminergic Dysfunction. ( 28673122 )
2017
23
Prediagnostic circulating concentrations of plasma insulin-like growth factor-I and risk of lymphoma in the European Prospective Investigation into Cancer and Nutrition. ( 27870006 )
2017
24
Addition of insulin-like growth factor I to the maturation medium of bovine oocytes subjected to heat shock: effects on the production of reactive oxygen species, mitochondrial activity and oocyte competence. ( 28445838 )
2017
25
The role of insulin-like growth factor I-II receptor on development of pleomorphic adenoma. ( 28625007 )
2017
26
First-in-man study with a novel PEGylated recombinant human insulin-like growth factor-I. ( 28110155 )
2017
27
Insulin-like growth factor I and its binding protein-3 are regulators of lactation and maternal responsiveness. ( 28611445 )
2017
28
Feed restriction and insulin-like growth factor-I (IGF-I) affect the oocyte maturation in matrinxAL Brycon amazonicus. ( 27928979 )
2017
29
The Role of Growth Hormone and Insulin-Like Growth Factor-I in the Liver. ( 28678199 )
2017
30
Insulin-like growth factor I reduces the occurrence of necrotizing enterocolitis by reducing inflammatory response and protecting intestinal mucosal barrier in neonatal rats model. ( 29131241 )
2017
31
Reference ranges for serum insulin-like growth factor I (IGF-I) in healthy Chinese adults. ( 28976993 )
2017
32
Interaction of insulin-like growth factor-I and insulin resistance-related genetic variants with lifestyle factors on postmenopausal breast cancer risk. ( 28478612 )
2017
33
Growth hormone and insulin-like growth factor-I axis in type 1 diabetes. ( 29249623 )
2017
34
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I. ( 28286293 )
2017
35
Insulin-like growth factor I enhances the developmental competence of yak embryos by modulating aquaporin 3. ( 28512855 )
2017
36
Decreased Serum Insulin-like Growth Factor-I is a Risk Factor for Non-vertebral Fractures in Diabetic Postmenopausal Women. ( 28154269 )
2017
37
Pre-diagnosis insulin-like growth factor-I and risk of epithelial invasive ovarian cancer by histological subtypes: A collaborative re-analysis from the Ovarian Cancer Cohort Consortium. ( 28205047 )
2017
38
Standardization of Growth Hormone and Insulin-like Growth Factor-I Measurements. ( 28516748 )
2017
39
To Prime or Not to Prime - Is That Still a Question? A Comment on the US Guidelines on Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents. ( 28505613 )
2017
40
Growth and Growth hormone - Insulin Like Growth Factor -I (GH-IGF-I) Axis in Chronic Anemias. ( 28467344 )
2017
41
Retraction: Targeting 3-Phosphoinoside-Dependent Kinase-1 to Inhibit Insulin-Like Growth Factor-I Induced AKT and p70 S6 Kinase Activation in Breast Cancer Cells. ( 28394928 )
2017
42
Genetic variants and traits related to insulin-like growth factor-I and insulin resistance and their interaction with lifestyles on postmenopausal colorectal cancer risk. ( 29023587 )
2017
43
Low serum insulin-like growth factor-I (IGF-I) level is associated with increased risk of vascular dementia. ( 28963885 )
2017
44
PEGylated insulin-like growth factor-I affords protection and facilitates recovery of lost functions post-focal ischemia. ( 28325900 )
2017
45
Regulation of sex steroid production and mRNAs encoding gonadotropin receptors and steroidogenic proteins by gonadotropins, cyclic AMP and insulin-like growth factor-I in ovarian follicles of rainbow trout (Oncorhynchus mykiss) at two stages of vitellogenesis. ( 27387444 )
2016
46
Novel markers to detect recombinant human insulin-like growth factor-I (rhIGF-I)/rhIGF binding protein-3 (rhIGFBP-3) misuse in athletes. ( 26888146 )
2016
47
Effect of insulin-like growth factor-I during the early postnatal period in intrauterine growth-restricted rats. ( 26635331 )
2016
48
A combination of insulin-like growth factor I (IGF-I) and FSH promotes proliferation of prepubertal bovine Sertoli cells isolated and cultured in vitro. ( 27700982 )
2016
49
Insulin-like growth factor-i gene therapy increases hippocampal neurogenesis, astrocyte branching and improves spatial memory in female aging rats. ( 27188415 )
2016
50
Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency. ( 27884013 )
2016

Variations for Insulin-Like Growth Factor I

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

75
# 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

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

6
(show top 50) (show all 656)
# Gene Variation Type Significance SNP ID Assembly Location
1 IGF1 IGF1, EX4-5DEL deletion Pathogenic
2 IGF1 IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A single nucleotide variant Pathogenic
3 IGF1 NM_001111284.1(IGF1): c.226G> A (p.Val76Met) single nucleotide variant Pathogenic rs121912430 GRCh37 Chromosome 12, 102813415: 102813415
4 IGF1 NM_001111284.1(IGF1): c.226G> A (p.Val76Met) single nucleotide variant Pathogenic rs121912430 GRCh38 Chromosome 12, 102419637: 102419637
5 IGF1R NM_000875.4(IGF1R): c.413G> A (p.Arg138Gln) single nucleotide variant protective rs121912426 GRCh37 Chromosome 15, 99251109: 99251109
6 IGF1R NM_000875.4(IGF1R): c.413G> A (p.Arg138Gln) single nucleotide variant protective rs121912426 GRCh38 Chromosome 15, 98707880: 98707880
7 IGF1R NM_000875.4(IGF1R): c.435A> C (p.Lys145Asn) single nucleotide variant protective rs121912427 GRCh37 Chromosome 15, 99251131: 99251131
8 IGF1R NM_000875.4(IGF1R): c.435A> C (p.Lys145Asn) single nucleotide variant protective rs121912427 GRCh38 Chromosome 15, 98707902: 98707902
9 IGF1R NM_000875.4(IGF1R): c.265C> T (p.Arg89Ter) single nucleotide variant protective rs121912428 GRCh37 Chromosome 15, 99250961: 99250961
10 IGF1R NM_000875.4(IGF1R): c.265C> T (p.Arg89Ter) single nucleotide variant protective rs121912428 GRCh38 Chromosome 15, 98707732: 98707732
11 IGF1R NM_000875.4(IGF1R): c.2216G> A (p.Arg739Gln) single nucleotide variant protective rs121912429 GRCh37 Chromosome 15, 99465391: 99465391
12 IGF1R NM_000875.4(IGF1R): c.2216G> A (p.Arg739Gln) single nucleotide variant protective rs121912429 GRCh38 Chromosome 15, 98922162: 98922162
13 IGF1 NM_001111283.2(IGF1): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs587779350 GRCh37 Chromosome 12, 102813397: 102813397
14 IGF1 NM_001111283.2(IGF1): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs587779350 GRCh38 Chromosome 12, 102419619: 102419619
15 IGF1R NM_000875.4(IGF1R): c.2298C> T (p.Thr766=) single nucleotide variant Benign rs3743262 GRCh37 Chromosome 15, 99465473: 99465473
16 IGF1R NM_000875.4(IGF1R): c.2298C> T (p.Thr766=) single nucleotide variant Benign rs3743262 GRCh38 Chromosome 15, 98922244: 98922244
17 IGF1R NM_000875.4(IGF1R): c.2700C> T (p.Asn900=) single nucleotide variant Benign/Likely benign rs56400113 GRCh37 Chromosome 15, 99467831: 99467831
18 IGF1R NM_000875.4(IGF1R): c.2700C> T (p.Asn900=) single nucleotide variant Benign/Likely benign rs56400113 GRCh38 Chromosome 15, 98924602: 98924602
19 IGF1R NM_000875.4(IGF1R): c.3129G> A (p.Glu1043=) single nucleotide variant Benign rs2229765 GRCh37 Chromosome 15, 99478225: 99478225
20 IGF1R NM_000875.4(IGF1R): c.3129G> A (p.Glu1043=) single nucleotide variant Benign rs2229765 GRCh38 Chromosome 15, 98934996: 98934996
21 IGF1R NM_000875.4(IGF1R): c.225C> T (p.Phe75=) single nucleotide variant Conflicting interpretations of pathogenicity rs55770488 GRCh37 Chromosome 15, 99250921: 99250921
22 IGF1R NM_000875.4(IGF1R): c.225C> T (p.Phe75=) single nucleotide variant Conflicting interpretations of pathogenicity rs55770488 GRCh38 Chromosome 15, 98707692: 98707692
23 IGF1R NM_000875.4(IGF1R): c.1950G> T (p.Arg650=) single nucleotide variant Conflicting interpretations of pathogenicity rs56294552 GRCh37 Chromosome 15, 99459314: 99459314
24 IGF1R NM_000875.4(IGF1R): c.1950G> T (p.Arg650=) single nucleotide variant Conflicting interpretations of pathogenicity rs56294552 GRCh38 Chromosome 15, 98916085: 98916085
25 IGF1R NM_001291858.1(IGF1R): c.3184-2A> T single nucleotide variant Likely pathogenic rs886042346 GRCh37 Chromosome 15, 99478543: 99478543
26 IGF1R NM_001291858.1(IGF1R): c.3184-2A> T single nucleotide variant Likely pathogenic rs886042346 GRCh38 Chromosome 15, 98935314: 98935314
27 IGF1R NM_000875.4(IGF1R): c.4038C> T (p.Tyr1346=) single nucleotide variant Benign/Likely benign rs17847203 GRCh37 Chromosome 15, 99500605: 99500605
28 IGF1R NM_000875.4(IGF1R): c.4038C> T (p.Tyr1346=) single nucleotide variant Benign/Likely benign rs17847203 GRCh38 Chromosome 15, 98957376: 98957376
29 IGF1 NM_000618.4(IGF1): c.*6433G> C single nucleotide variant Likely benign rs5742714 GRCh38 Chromosome 12, 102396074: 102396074
30 IGF1 NM_000618.4(IGF1): c.*6433G> C single nucleotide variant Likely benign rs5742714 GRCh37 Chromosome 12, 102789852: 102789852
31 IGF1 NM_000618.4(IGF1): c.*5533C> T single nucleotide variant Uncertain significance rs566519887 GRCh38 Chromosome 12, 102396974: 102396974
32 IGF1 NM_000618.4(IGF1): c.*5533C> T single nucleotide variant Uncertain significance rs566519887 GRCh37 Chromosome 12, 102790752: 102790752
33 IGF1 NM_000618.4(IGF1): c.*5449G> A single nucleotide variant Uncertain significance rs569070910 GRCh38 Chromosome 12, 102397058: 102397058
34 IGF1 NM_000618.4(IGF1): c.*5449G> A single nucleotide variant Uncertain significance rs569070910 GRCh37 Chromosome 12, 102790836: 102790836
35 IGF1 NM_000618.4(IGF1): c.*5187A> G single nucleotide variant Uncertain significance rs886048863 GRCh38 Chromosome 12, 102397320: 102397320
36 IGF1 NM_000618.4(IGF1): c.*5187A> G single nucleotide variant Uncertain significance rs886048863 GRCh37 Chromosome 12, 102791098: 102791098
37 IGF1 NM_000618.4(IGF1): c.*5079T> C single nucleotide variant Uncertain significance rs886048864 GRCh38 Chromosome 12, 102397428: 102397428
38 IGF1 NM_000618.4(IGF1): c.*5079T> C single nucleotide variant Uncertain significance rs886048864 GRCh37 Chromosome 12, 102791206: 102791206
39 IGF1 NM_000618.4(IGF1): c.*4980T> C single nucleotide variant Uncertain significance rs886048865 GRCh38 Chromosome 12, 102397527: 102397527
40 IGF1 NM_000618.4(IGF1): c.*4980T> C single nucleotide variant Uncertain significance rs886048865 GRCh37 Chromosome 12, 102791305: 102791305
41 IGF1 NM_000618.4(IGF1): c.*4940C> A single nucleotide variant Uncertain significance rs886048866 GRCh38 Chromosome 12, 102397567: 102397567
42 IGF1 NM_000618.4(IGF1): c.*4940C> A single nucleotide variant Uncertain significance rs886048866 GRCh37 Chromosome 12, 102791345: 102791345
43 IGF1 NM_000618.4(IGF1): c.*4540C> T single nucleotide variant Uncertain significance rs184498533 GRCh37 Chromosome 12, 102791745: 102791745
44 IGF1 NM_000618.4(IGF1): c.*4540C> T single nucleotide variant Uncertain significance rs184498533 GRCh38 Chromosome 12, 102397967: 102397967
45 IGF1 NM_000618.4(IGF1): c.*4421_*4422insT insertion Uncertain significance rs886048870 GRCh37 Chromosome 12, 102791863: 102791864
46 IGF1 NM_000618.4(IGF1): c.*4421_*4422insT insertion Uncertain significance rs886048870 GRCh38 Chromosome 12, 102398085: 102398086
47 IGF1 NM_000618.4(IGF1): c.*3933G> C single nucleotide variant Uncertain significance rs886048874 GRCh37 Chromosome 12, 102792352: 102792352
48 IGF1 NM_000618.4(IGF1): c.*3933G> C single nucleotide variant Uncertain significance rs886048874 GRCh38 Chromosome 12, 102398574: 102398574
49 IGF1 NM_000618.4(IGF1): c.*3707dupA duplication Uncertain significance rs886048876 GRCh37 Chromosome 12, 102792578: 102792578
50 IGF1 NM_000618.4(IGF1): c.*3707dupA duplication Uncertain significance rs886048876 GRCh38 Chromosome 12, 102398800: 102398800

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 87)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
2
Show member pathways
13.92 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
3
Show member pathways
13.86 GH1 IGF1 IGF2 IGFBP1 IGFBP2 IGFBP3
4
Show member pathways
13.78 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
5
Show member pathways
13.61 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
6
Show member pathways
13.43 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
7
Show member pathways
13.37 AKT1 GH1 IGF1 IGF1R IGF2 INSR
8
Show member pathways
13.37 AKT1 AKT2 IGF1 IGF2 ITGA6 ITGAV
9
Show member pathways
13.37 AKT1 AKT2 GH1 GHR IGF1 IGF1R
10
Show member pathways
13.33 AKT1 GH1 IGF1 IGF1R IGF2 INSR
11
Show member pathways
13.11 AKT1 GH1 IGF1 IGF1R IGF2 INS
12
Show member pathways
13.11 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
13
Show member pathways
13.01 IGF1R INSR INSRR ITGA6 ITGAV ITGB3
14
Show member pathways
12.97 AKT1 AKT2 IGF1 IGF1R ITGA6 ITGAV
15
Show member pathways
12.93 AKT1 AKT2 IGF1 IGF1R INS INSRR
16
Show member pathways
12.92 AKT1 AKT2 GH1 GHR IGF1 IGF1R
17 12.91 AKT1 AKT2 IGF1 IGF1R IGF2 ITGA6
18
Show member pathways
12.87 AKT1 INS INSR ITGA6 ITGAV ITGB3
19
Show member pathways
12.87 AKT1 AKT2 IGF1 IGF1R IGF2 INSR
20
Show member pathways
12.86 AKT1 AKT2 IGF1 IGF1R IGF2
21
Show member pathways
12.85 AKT1 GH1 GHR IGF1 IGF1R IGF2
22 12.83 AKT1 AKT2 IGF1 IGF1R IGF2 INS
23
Show member pathways
12.81 AKT1 AKT2 IGF1 IGF1R IGF2
24
Show member pathways
12.76 AKT1 AKT2 GH1 GHR IGF1 IGF1R
25
Show member pathways
12.75 AKT1 AKT2 IGF1 IGF1R IGF2 INS
26 12.69 INS INSRR ITGA6 ITGAV ITGB3
27
Show member pathways
12.62 IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5 IGFBP6
28
Show member pathways
12.58 AKT1 AKT2 IGF1R INS INSR
29
Show member pathways
12.56 AKT1 AKT2 IGF1 IGF1R INS INSR
30
Show member pathways
12.51 AKT1 AKT2 IGF1R INSR ITGAV
31
Show member pathways
12.51 AKT1 AKT2 IGF1 IGF1R INS INSR
32 12.5 AKT1 AKT2 IGF1R IGFBP1 IGFBP2 IGFBP3
33
Show member pathways
12.45 AKT1 AKT2 INS INSR
34
Show member pathways
12.44 AKT1 AKT2 ITGAV ITGB3
35
Show member pathways
12.42 AKT1 AKT2 IGF1 IGF1R INS
36
Show member pathways
12.39 AKT1 AKT2 IGF1 IGF1R INSR
37 12.3 AKT1 AKT2 IGF1 IGF1R IGF2 ITGAV
38
Show member pathways
12.29 AKT1 AKT2 ITGAV ITGB3
39
Show member pathways
12.27 IGF1 ITGA6 ITGAV ITGB3
40
Show member pathways
12.27 AKT1 AKT2 INS INSR
41
Show member pathways
12.27 AKT1 AKT2 IGF1 IGF1R
42
Show member pathways
12.24 AKT1 AKT2 IGF1R INSR
43
Show member pathways
12.23 AKT1 AKT2 IGF1 IGF1R
44
Show member pathways
12.21 AKT1 AKT2 IGF1 IGF1R IGF2
45
Show member pathways
12.19 AKT1 AKT2 IGF1 IGF1R
46
Show member pathways
12.19 AKT1 AKT2 IGF1 IGF1R INS INSR
47 12.16 AKT1 AKT2 ITGAV ITGB3
48 12.16 AKT1 AKT2 IGF1 IGF1R
49
Show member pathways
12.15 AKT1 AKT2 GH1 IGF1 IGF2
50
Show member pathways
12.14 AKT1 AKT2 IGF1 IGF1R INS INSR

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 13)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.91 IGFBP1 IGFBP3 IGFBP4 IGFBP5 INS
2 receptor complex GO:0043235 9.72 GHR IGF1R INSR INSRR ITGB3
3 ruffle membrane GO:0032587 9.7 AKT2 ITGAV ITGB3
4 integrin complex GO:0008305 9.63 ITGA6 ITGAV ITGB3
5 alphav-beta3 integrin-HMGB1 complex GO:0035868 9.49 ITGAV ITGB3
6 alphav-beta3 integrin-PKCalpha complex GO:0035866 9.48 ITGAV ITGB3
7 integrin alphav-beta3 complex GO:0034683 9.43 ITGAV ITGB3
8 growth hormone receptor complex GO:0070195 9.4 GH1 GHR
9 insulin-like growth factor ternary complex GO:0042567 9.33 IGF1 IGFBP3 IGFBP5
10 insulin-like growth factor binding protein complex GO:0016942 9.13 IGF1 IGFBP3 IGFBP5
11 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 8.92 IGF1 IGF1R ITGAV ITGB3
12 extracellular region GO:0005576 10.11 GH1 GHR IGF1 IGF2 IGFBP1 IGFBP2
13 extracellular space GO:0005615 10 GH1 GHR IGF1 IGF2 IGFBP1 IGFBP2

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of signal transduction GO:0009968 9.98 IGF1R IGFBP3 INSR INSRR
2 osteoblast differentiation GO:0001649 9.98 AKT1 IGF2 IGFBP3 IGFBP5
3 response to organic substance GO:0010033 9.97 AKT1 IGF1 IGF2 INS
4 activation of MAPK activity GO:0000187 9.97 GHR IGF1 IGF2 INS INSR
5 cellular response to insulin stimulus GO:0032869 9.96 AKT1 AKT2 GHR INSR
6 response to insulin GO:0032868 9.95 IGF1 IGF2 IGFBP2 INS
7 regulation of cell growth GO:0001558 9.95 IGFBP2 IGFBP3 IGFBP4 IGFBP5 IGFBP6
8 glucose homeostasis GO:0042593 9.95 AKT1 IGF1 IGF2 IGFBP5 INS INSR
9 cell-matrix adhesion GO:0007160 9.93 ITGA6 ITGAV ITGB3
10 integrin-mediated signaling pathway GO:0007229 9.93 ITGA6 ITGAV ITGB3
11 regulation of growth GO:0040008 9.93 IGFBP2 IGFBP3 IGFBP4 IGFBP5
12 regulation of cell migration GO:0030334 9.92 AKT1 AKT2 ITGB3
13 positive regulation of cell growth GO:0030307 9.92 AKT1 IGFBP1 INS
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.92 GH1 IGF1 IGF2 INS
15 response to glucose GO:0009749 9.91 IGF1 IGF2 INS
16 cellular response to organic cyclic compound GO:0071407 9.91 AKT1 IGFBP5 ITGA6
17 positive regulation of kinase activity GO:0033674 9.91 IGF1R INSR INSRR
18 response to nutrient levels GO:0031667 9.91 GH1 IGF1 IGF2 INS
19 glucose metabolic process GO:0006006 9.91 AKT1 AKT2 IGF2 IGFBP5 INS
20 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.91 GH1 GHR IGF1 IGF2 INS ITGB3
21 cellular protein metabolic process GO:0044267 9.91 IGF1 IGF2 IGFBP1 IGFBP2 IGFBP3 IGFBP4
22 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.9 GH1 GHR IGF1
23 positive regulation of DNA replication GO:0045740 9.88 IGF1 IGF1R INS INSR
24 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.87 IGF1 ITGA6 ITGAV
25 activation of protein kinase B activity GO:0032148 9.87 AKT1 IGF1 INS INSR
26 insulin receptor signaling pathway GO:0008286 9.87 AKT1 AKT2 IGF1R IGF2 IGFBP1 INS
27 positive regulation of multicellular organism growth GO:0040018 9.86 GH1 GHR IGF2
28 phosphatidylinositol 3-kinase signaling GO:0014065 9.85 AKT1 IGF1 IGF1R
29 positive regulation of activated T cell proliferation GO:0042104 9.85 IGF1 IGF2 IGFBP2
30 positive regulation of mitotic nuclear division GO:0045840 9.84 IGF1 IGF2 INS INSR
31 regulation of glucose metabolic process GO:0010906 9.83 IGFBP3 IGFBP4 IGFBP5
32 positive regulation of glycolytic process GO:0045821 9.83 IGF1 INS INSR
33 cell-substrate adhesion GO:0031589 9.82 ITGA6 ITGAV ITGB3
34 striated muscle cell differentiation GO:0051146 9.81 AKT1 IGF2 IGFBP5
35 positive regulation of insulin receptor signaling pathway GO:0046628 9.81 IGF1 IGF2 INS
36 cell adhesion mediated by integrin GO:0033627 9.8 ITGA6 ITGAV ITGB3
37 insulin-like growth factor receptor signaling pathway GO:0048009 9.8 AKT1 GHR IGF1 IGF1R
38 positive regulation of glucose import GO:0046326 9.8 AKT1 AKT2 IGF1 INS INSR
39 response to growth hormone GO:0060416 9.79 AKT1 GHR IGFBP5
40 type B pancreatic cell proliferation GO:0044342 9.77 IGFBP3 IGFBP4 IGFBP5
41 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.77 GH1 IGF1 IGFBP3 IGFBP4 IGFBP5
42 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902176 9.75 AKT1 INS
43 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.75 ITGAV ITGB3
44 mammary gland epithelial cell differentiation GO:0060644 9.75 AKT1 AKT2
45 negative regulation of smooth muscle cell migration GO:0014912 9.74 IGFBP3 IGFBP5
46 male sex determination GO:0030238 9.74 INSR INSRR
47 amyloid-beta clearance GO:0097242 9.74 IGF1R INSR
48 growth hormone receptor signaling pathway GO:0060396 9.74 GH1 GHR
49 dendritic spine maintenance GO:0097062 9.74 IGF1R INSR
50 negative regulation of lipid storage GO:0010888 9.73 ITGAV ITGB3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.98 IGFBP1 IGFBP2 IGFBP4 IGFBP6 ITGAV
2 insulin-like growth factor I binding GO:0031994 9.93 IGF1R IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5
3 integrin binding GO:0005178 9.88 IGF1 IGF2 ITGA6 ITGAV ITGB3
4 hormone activity GO:0005179 9.83 GH1 IGF1 IGF2 INS
5 MAP kinase kinase kinase activity GO:0004709 9.77 IGF1R INSR INSRR
6 mitogen-activated protein kinase kinase binding GO:0031434 9.77 IGF1R INSR INSRR
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.75 IGF1R INSR INSRR
8 growth factor binding GO:0019838 9.73 IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5 IGFBP6
9 fibronectin binding GO:0001968 9.71 IGFBP3 IGFBP5 ITGAV ITGB3
10 phosphatidylinositol 3-kinase binding GO:0043548 9.69 IGF1R INSR INSRR
11 insulin receptor substrate binding GO:0043560 9.67 IGF1R INSR INSRR
12 insulin receptor binding GO:0005158 9.67 IGF1 IGF1R IGF2 INS
13 neuregulin binding GO:0038132 9.63 ITGA6 ITGAV ITGB3
14 insulin-like growth factor receptor binding GO:0005159 9.62 IGF1 IGF2 INS INSR
15 receptor activator activity GO:0030546 9.61 IGF1 IGF2 INS
16 C-X3-C chemokine binding GO:0019960 9.56 ITGAV ITGB3
17 insulin-like growth factor binding GO:0005520 9.56 IGF1R IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5
18 insulin binding GO:0043559 9.55 IGF1R INSR
19 insulin-like growth factor-activated receptor activity GO:0005010 9.54 IGF1R INSRR
20 insulin-like growth factor II binding GO:0031995 9.17 IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5 IGFBP6
21 protein binding GO:0005515 10.52 AKT1 AKT2 GH1 GHR IGF1 IGF1R
22 protein kinase activity GO:0004672 10 AKT1 AKT2 IGF1R INSR INSRR

Sources for Insulin-Like Growth Factor I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73