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IGF1RES
MCID: INS024
MIFTS: 77

Insulin-Like Growth Factor I (IGF1RES)

Categories: Ear diseases, Endocrine diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Insulin-Like Growth Factor I

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MalaCards integrated aliases for Insulin-Like Growth Factor I:

Name: Insulin-Like Growth Factor I 57
Insulin-Like Growth Factor I Deficiency 57 19 73 71
Igf1 Deficiency 57 19 73 53
Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 57 12 38
Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency 58 28 5
Growth Delay Due to Insulin-Like Growth Factor I Resistance 58 28 5
Insulin-Like Growth Factor I, Resistance to 57 12 71
Igf-I Resistance 57 53
Igf1res 57 73
Growth Restriction with Sensorineural Deafness and Intellectual Disability 19
Growth Retardation with Sensorineural Deafness and Mental Retardation 57
Growth Delay-Hearing Loss-Intellectual Disability Syndrome 58
Growth Delay-Deafness-Intellectual Disability Syndrome 58
Primary Insulin-Like Growth Factor Deficiency 58
Insulin-Like Growth Factor 1, Resistance to 38
Insulin-Like Growth Factor 1 Resistance to 19
Resistance to Insulin-Like Growth Factor I 73
Somatomedin, End-Organ Insensitivity to 57
Insulin-Like Growth Factor 1 Resistance 73
Somatomedin End-Organ Insensitivity to 19
End-Organ Insensitivity to Somatomedin 73
Somatomedin-C, Resistance to 57
Somatomedin-C Resistance to 19
Resistance to Somatomedin-C 73
Resistance to Igf-1 58
Igf-1 Resistance 19
Igf-1 Deficiency 58
Igf1 Resistance 73
Somatomedin-C 57

Characteristics:


Inheritance:

Insulin-Like Growth Factor I: Autosomal dominant 57
Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency: Autosomal recessive 58
Growth Delay Due to Insulin-Like Growth Factor I Resistance: Autosomal dominant,Autosomal recessive 58

Prevelance:

Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency: Infancy,Neonatal 58
Growth Delay Due to Insulin-Like Growth Factor I Resistance: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero
dominant and recessive patients have iugr, short stature, and microcephaly
heterozygous relatives of some biallelic patients appear to be unaffected


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Sources

Summaries for Insulin-Like Growth Factor I

About this section

GARD: 19 Growth 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).

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 IGF1R (Insulin Like Growth Factor 1 Receptor), and among its related pathways/superpathways are Metabolism of proteins and Apoptotic Pathways in Synovial Fibroblasts. The drugs Mecasermin and Caseins have been mentioned in the context of this disorder. Affiliated tissues include bone, placenta and smooth muscle, and related phenotypes are failure to thrive and delayed skeletal maturation

Orphanet 58 Growth delay due to insulin-like growth factor type 1 deficiency: Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

Growth delay due to insulin-like growth factor i resistance: Growth 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).

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot 73 Insulin-like growth factor i deficiency: Autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability.

Insulin-like growth factor 1 resistance: A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels.
Sources

Related Diseases for Insulin-Like Growth Factor I

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

(show top 50) (show all 898)
# Related Disease Score Top Affiliating Genes
1 acid-labile subunit deficiency 32.5 IGFBP3 IGFALS IGF2 IGF1
2 laron syndrome 32.5 IGFBP3 IGFBP2 IGFBP1 IGFALS IGF2 IGF1
3 nutritional deficiency disease 32.0 IGFBP3 IGFBP1 IGF1 GH1
4 acromegaly 31.9 INS IGFBP3 IGFBP2 IGFBP1 IGF2 IGF1
5 type 1 diabetes mellitus 31.7 INS IGFBP3 IGFBP2 IGFBP1 IGF2 IGF1
6 chronic kidney disease 31.7 INS IGFBP3 IGFBP1 IGF2 IGF1
7 adult syndrome 31.6 INS IGF2 IGF1
8 hyperglycemia 31.6 INSR INS IGF1R IGF1 GH1 AKT1
9 hypopituitarism 31.6 INS IGFBP3 IGF1 GHR GH1
10 kidney disease 31.6 INSR INS IGFBP3 IGFBP1 IGF2 IGF1
11 microvascular complications of diabetes 1 31.6 INS IGFBP3 IGF1
12 pre-eclampsia 31.5 INS IGFBP3 IGFBP1 IGF2 IGF1
13 hypothyroidism 31.5 INS IGFBP3 IGF1 GHR GH1
14 prediabetes syndrome 31.4 INSR INS IGFBP3 IGFBP1 IGF1 GH1
15 turner syndrome 31.4 INS IGFBP3 IGFBP1 IGF2 IGF1 GHR
16 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 31.4 INSR INS IGFBP3 IGF1
17 glucose intolerance 31.4 INSR INS IGFBP1 IGF1 GH1
18 osteogenic sarcoma 31.4 IGFBP6 IGFBP5 IGFBP4 IGF2 IGF1R IGF1
19 hyperinsulinism 31.4 INSR INS IGFBP3 IGFBP2 IGFBP1 IGF2
20 polycystic ovary syndrome 31.4 INSR INS IGFBP4 IGFBP3 IGFBP2 IGFBP1
21 isolated growth hormone deficiency, type ia 31.4 IGFBP3 IGF1 GHR GH1
22 hypoglycemia 31.3 INSR INS IGFBP3 IGFBP2 IGFBP1 IGF2
23 hyperprolactinemia 31.3 INS IGF1 GH1
24 pituitary gland disease 31.3 INS IGFBP3 IGF1 GHR GH1
25 aging 31.3 IGF1R IGF1 AKT1
26 exudative vitreoretinopathy 1 31.3 INS IGFBP3 IGFBP1 IGF1 AKT1
27 body mass index quantitative trait locus 11 31.2 INSR INS IGFBP3 IGFBP2 IGFBP1 IGF2
28 uremia 31.2 INS GHR GH1
29 anorexia nervosa 31.2 INS IGFBP3 IGFBP2 IGFBP1 IGF1 GHR
30 wilms tumor 1 31.1 IGF2 IGF1R IGF1 AKT1
31 hyperandrogenism 31.1 INSR INS IGFBP3 IGFBP1 IGF2 IGF1
32 pituitary adenoma 1, multiple types 31.1 IGFBP3 IGF1 GH1
33 islet cell tumor 31.1 INS IGFBP3 IGF2 IGF1
34 acanthosis nigricans 31.1 INSR INS IGF1R IGF1 GH1
35 gestational diabetes 31.1 INSR INS IGFBP1 IGF1 GHR
36 anovulation 31.1 INS IGFBP3 IGFBP1 IGF1
37 donohue syndrome 31.0 INSR INS IGF1R IGF1 AKT2
38 congenital hypothyroidism 31.0 IGFBP3 IGF1 GHR GH1
39 pituitary hormone deficiency, combined, 2 31.0 IGF1 GHR GH1
40 type 2 diabetes mellitus 30.9 INSR INS IGFBP3 IGFBP2 IGFBP1 IGF2R
41 endometrial cancer 30.9 INS IGFBP3 IGFBP2 IGFBP1 IGF2 IGF1R
42 ovarian disease 30.9 INSR INS IGFBP1 IGF1 AKT1
43 empty sella syndrome 30.9 INS IGFBP3 IGF1 GH1
44 craniopharyngioma 30.8 INS IGF1R IGF1 GH1
45 breast disease 30.8 IGFBP3 IGFBP1 IGF2 IGF1
46 rhabdomyosarcoma 2 30.8 IGF2 IGF1R AKT1
47 fetal macrosomia 30.8 INSR INS IGFBP3 IGF2 IGF1
48 chronic fatigue syndrome 30.8 INS IGFBP1 IGF2 IGF1 GH1
49 prader-willi syndrome 30.7 INS IGFBP3 IGFBP1 IGF2 IGF1 GHR
50 diabetes mellitus 30.7 INSR INS IGFBP5 IGFBP4 IGFBP3 IGFBP2

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



Diseases related to Insulin-Like Growth Factor I
Sources

Symptoms & Phenotypes for Insulin-Like Growth Factor I

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Human phenotypes related to Insulin-Like Growth Factor I:

58 30 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001508
2 delayed skeletal maturation 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
 HP:0002750
3 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001999
4 microcephaly 58 30 Hallmark (90%) Frequent (79-30%)
Very frequent (99-80%)
 HP:0000252
5 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
 HP:0004322
6 intellectual disability, mild 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001256
7 attention deficit hyperactivity disorder 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007018
8 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
 HP:0001511
9 congenital sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008527
10 severe postnatal growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008850
11 insulin resistance 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000855
12 small for gestational age 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001518
13 severe intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008846
14 bilateral sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008619
15 prelingual sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000399
16 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
Very frequent (99-80%)
 HP:0001249
17 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000431
18 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000319
19 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000232
20 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000939
21 wide intermamillary distance 58 30 Very rare (1%) Frequent (79-30%)
 HP:0006610
22 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000347
23 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000767
24 motor delay 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
 HP:0001270
25 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004209
26 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000684
27 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000233
28 short palm 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004279
29 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000135
30 broad nasal tip 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000455
31 clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
 HP:0030084
32 neonatal hyperbilirubinemia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003265
33 small placenta 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006266
34 prominent forehead 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011220
35 hypoglycemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001943
36 low posterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002162
37 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000545
38 low anterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000294
39 truncal obesity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001956
40 single transverse palmar crease 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000954
41 cafe-au-lait spot 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000957
42 concave nasal ridge 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011120
43 congenital bilateral ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007911
44 ptosis 58 30 Occasional (29-5%)
 HP:0000508
45 sensorineural hearing impairment 58 30 Very frequent (99-80%)
 HP:0000407
46 hyperactivity 58 30 Very frequent (99-80%)
 HP:0000752
47 short attention span 58 30 Very frequent (99-80%)
 HP:0000736
48 high palate 30 HP:0000218
49 diabetes mellitus 30 HP:0000819
50 osteopenia 30 HP:0000938

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
global developmental delay
delayed motor development
mental retardation
speech delay
developmental delay, mild
more
Growth Height:
short stature

Head And Neck Face:
triangular face
long, smooth philtrum
facial dysmorphism (in some patients)
receding hairline
progeroid appearance (in some recessive patients)
more
Neurologic Behavioral Psychiatric Manifestations:
agitation
anxious affect
obsessive tendencies

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)

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation
poor growth

Skeletal Hands:
clinodactyly
short fingers
small hands

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 (Updated 08-Dec-2022)

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:

25 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.25 ITGB3
2 Decreased viability GR00055-A-2 10.25 ITGB3
3 Decreased viability GR00055-A-3 10.25 ITGB3
4 Decreased viability GR00221-A-1 10.25 AKT1 IGF1R INSR
5 Decreased viability GR00221-A-2 10.25 AKT1 IGF1R INSR ITGAV ITGB3
6 Decreased viability GR00221-A-3 10.25 AKT1 IGF1R INSR
7 Decreased viability GR00221-A-4 10.25 AKT1 INSR ITGB3
8 Decreased viability GR00249-S 10.25 AKT1 ITGAV ITGB3
9 Decreased viability GR00301-A 10.25 IGF1R
10 Decreased viability GR00342-S-2 10.25 IGF1R
11 Decreased viability GR00381-A-1 10.25 ITGAV
12 Decreased viability GR00386-A-1 10.25 ITGAV
13 Decreased viability GR00402-S-2 10.25 IGF1R
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.78 AKT2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 GH1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.78 GH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.78 GH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.78 GH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.78 INSR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.78 IGF1R
21 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.78 AKT2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 GH1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.78 INSR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.78 INSR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.78 AKT1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 GH1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.78 AKT2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.78 AKT2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.78 INSR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 INSR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 GH1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.78 AKT1 AKT2 GH1 IGF1R INSR
33 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.78 AKT1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 AKT1 AKT2 IGF1R INSR
35 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.78 GH1
36 Increased cell viability after pRB stimulation GR00230-A-1 9.13 AKT1 AKT2 IGF1R

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

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 AKT1 AKT2 GH1 GHR IGF1 IGF1R
2 nervous system MP:0003631 10.38 AKT1 AKT2 GH1 GHR IGF1 IGF1R
3 growth/size/body region MP:0005378 10.38 AKT1 AKT2 GH1 GHR IGF1 IGF1R
4 muscle MP:0005369 10.36 AKT1 AKT2 GHR IGF1 IGF1R IGF2
5 liver/biliary system MP:0005370 10.35 AKT1 AKT2 GH1 GHR IGF1R IGF2
6 endocrine/exocrine gland MP:0005379 10.3 AKT1 AKT2 GH1 GHR IGF1 IGF1R
7 renal/urinary system MP:0005367 10.26 GH1 GHR IGF1 IGF2 IGF2R IGFBP2
8 adipose tissue MP:0005375 10.25 AKT1 AKT2 GH1 GHR IGF1 IGF1R
9 cellular MP:0005384 10.25 AKT1 AKT2 GHR IGF1 IGF1R IGF2
10 cardiovascular system MP:0005385 10.22 AKT1 GH1 GHR IGF1 IGF1R IGF2
11 immune system MP:0005387 10.18 AKT1 AKT2 GH1 GHR IGF1 IGF1R
12 limbs/digits/tail MP:0005371 10.07 GHR IGF1 IGF1R IGF2 IGF2R IGFALS
13 reproductive system MP:0005389 10.03 AKT1 AKT2 GH1 GHR IGF1 IGF1R
14 respiratory system MP:0005388 9.97 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
15 skeleton MP:0005390 9.9 AKT1 AKT2 GHR IGF1 IGF1R IGF2
16 hematopoietic system MP:0005397 9.77 AKT1 AKT2 GH1 GHR IGF1 IGF1R
17 integument MP:0010771 9.28 AKT1 AKT2 GHR IGF1 IGF1R IGF2
Sources

Drugs & Therapeutics for Insulin-Like Growth Factor I

About this section

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecasermin Approved, Investigational Phase 3 68562-41-4
2 Caseins Phase 2, Phase 3
3 Insulin, Globin Zinc Phase 3
4
Insulin Phase 3
5 Mitogens Phase 3
6
Cetuximab Approved Phase 2 205923-56-4
7
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
8
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
9
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 11947679 6857599
10 Vitamins Phase 2
11 topoisomerase I inhibitors Phase 2
12 Cola Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Hormones Phase 2
15
Hydrocortisone succinate Approved Early Phase 1 2203-97-6 3643
16
Hydrocortisone acetate Approved, Vet_approved Early Phase 1 50-03-3
17
Hydrocortisone Approved, Vet_approved Early Phase 1 50-23-7 3640 5754
18
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
19
Morphine Approved, Investigational 57-27-2 5288826
20 Endothelial Growth Factors
21 Hormone Antagonists Early Phase 1
22 Hydrocortisone 17-butyrate 21-propionate Early Phase 1
23 Hypoglycemic Agents
24 Androgens
25 Pharmaceutical Solutions

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Influence of Protein Supplements on Serum Insulin-like Growth Factor-I Levels in Women With Anorexia Nervosa Completed NCT01823822 Phase 2, Phase 3
2 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
3 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.)
4 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)
5 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 Completed NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
6 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
7 A 90-day, Double-blind, Placebo-controlled, Randomized, Parallel-Group Efficacy and Safety Study of an Amino Acid Supplement in Adults Recruiting NCT05599282 Phase 2 Amino Acid Supplement
8 Chinese Medicine WT for Elevating IGF-1 of Patients With Spinocerebellar Ataxia Type 3 - Pilot Study Recruiting NCT05038306 Phase 2 Chinese medicine WT
9 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
10 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])
11 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
12 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
13 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
14 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 Withdrawn NCT01182883 Phase 1 IMC-A12;Temsirolimus
15 Effect of maternalBMI and Type of Infants Feeding on IGF-1in Infants as Early Marker of Childand Adult Hood Obesity Unknown status NCT03275272
16 Neurotrophic Factors in Cerebrospinal Fluid in Diabetic Patients With Polyneuropathy Unknown status NCT01718015
17 Effect of Training and Local Infusion of Insulin-like Growth Factor-I and Training on Tendon Structure in Patients With Patellar Tendinopathy Unknown status NCT01834989 Early Phase 1 Insulin-like growth factor I;Placebo
18 The Relationship Between the Growth Hormone (GH)- Insulin Like Growth Factor I (IGF-I) System and the Inflammatory System in Healthy Normal Persons Unknown status NCT00969644 Somatropin;Pegvisomant
19 Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation Unknown status NCT00005105
20 The Role of Insulin-like Growth Factor-I (IGF-I) and Free Fatty Acids in Insulin Resistance, Insulin Secretion and Glucose Metabolism Abnormalities in Acromegaly Completed NCT02084095
21 Effects of Low Dose Growth Hormone (GH) Therapy on Insulin Sensitivity, Adipocyte Insulin-like Growth Factor-I (IGF-I) and IGF-I/Insulin Receptor Density and Regulation of Cortisol Metabolism in GH Deficient Adults Completed NCT00517062 Early Phase 1 Growth hormone (Genotropin);Placebo
22 Contribution of Insulin-Like Growth Factor-I (IGF-I) and Its Binding Protein (IGFBP3) to Increased Left Ventricular Mass in Familial Hypertrophic Cardiomyopathy Caused by Distinct Sarcomeric Mutations Completed NCT00001878
23 Study of Recombinant Human Insulin-Like Growth Factor I in Patients With Severe Insulin Resistance Completed NCT00004419 insulin-like growth factor I
24 Dose Ranging Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004699 insulin-like growth factor I
25 Short Term Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004825 recombinant human insulin-like growth factor I
26 A Study to Assess and Quantify Surface Insulin-like Growth Factor I Receptor (IGF-IR) in Rhabdomyosarcoma (RMS) Tumor Tissue Completed NCT01365962
27 The Influence of Androgen Receptor, Insulin Like Growth Factor 1 Receptor, and Insulin Receptor in Male Patients With Peripheral Artery Disease Recruiting NCT04710186
28 Effect of a High Interval Intensity Training Program on Quality of Life, Mental Health, Brain Executive Functions, and IGF-1 Response in Sedentary Young University Women. Recruiting NCT05642169
29 Global Patient Registry to Monitor Long-term Safety and Effectiveness of Increlex® in Children and Adolescents With Severe Primary Insulin-like Growth Factor-1 Deficiency (SPIGFD). Recruiting NCT00903110 Increlex®
30 An Epidemiologic, Descriptive and Cross-sectional Study of the IGF-1, IGFBP-3 and ALS Normative Ranges in a Healthy Paediatric Spanish Population, Divided Into Chronological Age, Sex and Pubertal Stage Terminated NCT01676090

Search NIH Clinical Center for Insulin-Like Growth Factor I

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Genetic Tests for Insulin-Like Growth Factor I

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Genetic tests related to Insulin-Like Growth Factor I:

# Genetic test Affiliating Genes
1 Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency 28 IGF1
2 Growth Delay Due to Insulin-Like Growth Factor I Resistance 28 IGF1R
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Anatomical Context for Insulin-Like Growth Factor I

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Organs/tissues related to Insulin-Like Growth Factor I:

MalaCards : Bone, Placenta, Smooth Muscle, Skeletal Muscle, Brain, Bone Marrow, Liver
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Publications for Insulin-Like Growth Factor I

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Articles related to Insulin-Like Growth Factor I:

(show top 50) (show all 15734)
# 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. 53 62 57 5
16569742 2006
2
A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. 62 57 5
17264177 2007
3
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. 62 57 5
14657428 2003
4
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. 57 5
26252249 2015
5
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 57 5
23045302 2013
6
Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R). 57 5
22130793 2012
7
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. 57 5
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. 53 62 57
16757531 2006
9
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. 53 62 5
14684690 2003
10
Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells. 53 62 57
8964861 1996
11
An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. 62 57
21811077 2011
12
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. 62 5
15769976 2005
13
Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. 62 5
8857020 1996
14
Short stature with normal growth hormone and elevated IGF-I. 62 57
1396882 1992
15
Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature. 62 57
1707060 1991
16
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. 62 57
3818890 1987
17
Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin. 62 57
6358242 1984
18
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor. 5
30848790 2019
19
Genomic analysis of primordial dwarfism reveals novel disease genes. 5
24389050 2014
20
Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation. 5
22309212 2012
21
Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome. 57
6088245 1984
22
Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin. 57
6987254 1980
23
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. 53 62
20357178 2010
24
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. 53 62
19838731 2010
25
Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. 53 62
20103656 2010
26
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. 53 62
19762915 2009
27
Mechanisms of impaired growth: effect of steroids on bone and cartilage. 53 62
19940493 2009
28
Prevalence of IGF1 deficiency in prepubertal children with isolated short stature. 53 62
19417076 2009
29
Lack of effect of IGF-I on the glomerular filtration rate in non-diabetic patients with advanced chronic kidney disease. 53 62
19046909 2009
30
Prototypical anti-inflammatory cytokine IL-10 prevents loss of IGF-I-induced myogenin protein expression caused by IL-1beta. 53 62
18270299 2008
31
The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. 53 62
18359741 2008
32
Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment. 53 62
17895313 2007
33
Use of desmopressin as an alternative to corticotropin-releasing hormone during inferior petrosal sinus sampling in a child with Cushing's disease. 53 62
17598978 2007
34
Patients with congenital deficiency of IGF-I seem protected from the development of malignancies: a preliminary report. 53 62
17166755 2007
35
Longitudinal changes in insulin-like growth factor-I, insulin sensitivity, and secretion from birth to age three years in small-for-gestational-age children. 53 62
16912131 2006
36
Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis. 53 62
16914728 2006
37
Signaling through the small G-protein Cdc42 is involved in insulin-like growth factor-I resistance in aging articular chondrocytes. 53 62
16779831 2006
38
Cardiomyoblast apoptosis induced by insulin-like growth factor (IGF)-I resistance is IGF-II dependent and synergistically enhanced by angiotensin II. 53 62
16699953 2006
39
Cachexia: pathophysiology and clinical relevance. 53 62
16600922 2006
40
Fetal origins of adult disease: a paediatric perspective. 53 62
16311944 2005
41
Adult-onset growth hormone and insulin-like growth factor I deficiency reduces neoplastic disease, modifies age-related pathology, and increases life span. 53 62
15790724 2005
42
Proinflammatory cytokine impairment of insulin-like growth factor I-induced protein synthesis in skeletal muscle myoblasts requires ceramide. 53 62
15256490 2004
43
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts. 53 62
15476454 2004
44
From hormones to immunity: the physiology of immunology. 53 62
14759588 2004
45
IGF-1 and insulin as growth hormones. 53 62
15562823 2004
46
Growth failure in a child showing characteristics of Seckel syndrome: possible effects of IGF-I and endogenous IGFBP-3. 53 62
12153610 2002
47
Effect of IGF-I on FFA and glucose metabolism in control and type 2 diabetic subjects. 53 62
12006367 2002
48
Effects of growth hormone and insulin-like growth factor 1 deficiency on ageing and longevity. 53 62
11855684 2002
49
IGF-I resistance and Turner's syndrome. 53 62
11220703 2001
50
Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population. 53 62
9626125 1998
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Variations for Insulin-Like Growth Factor I

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

5 (show top 50) (show all 605)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IGF1R NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln) SNV Protective
 14793 rs121912429 GRCh37: 15:99465391-99465391
GRCh38: 15:98922162-98922162
2 IGF1R NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter) SNV Protective
 14792 rs121912428 GRCh37: 15:99250961-99250961
GRCh38: 15:98707732-98707732
3 IGF1R NM_000875.5(IGF1R):c.435A>C (p.Lys145Asn) SNV Protective
 14791 rs121912427 GRCh37: 15:99251131-99251131
GRCh38: 15:98707902-98707902
4 IGF1R NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln) SNV Protective
 14790 rs121912426 GRCh37: 15:99251109-99251109
GRCh38: 15:98707880-98707880
5 IGF1R NM_000875.5(IGF1R):c.700G>A (p.Glu234Lys) SNV Protective
 446755 rs1253103806 GRCh37: 15:99434613-99434613
GRCh38: 15:98891384-98891384
6 IGF1R NM_000875.5(IGF1R):c.119G>T (p.Arg40Leu) SNV Protective
 446756 rs1409058783 GRCh37: 15:99250815-99250815
GRCh38: 15:98707586-98707586
7 IGF1R NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) SNV Protective
 446754 rs1555434208 GRCh37: 15:99251057-99251057
GRCh38: 15:98707828-98707828
8 IGF1R NM_000875.5(IGF1R):c.2201G>T (p.Arg734Ile) SNV Protective
 446757 rs1555460945 GRCh37: 15:99460105-99460105
GRCh38: 15:98916876-98916876
9 IGF1R NM_000875.5(IGF1R):c.384T>C (p.Ile128=) SNV Pathogenic
 635841 rs1596214576 GRCh37: 15:99251080-99251080
GRCh38: 15:98707851-98707851
10 IGF1R NM_000875.5(IGF1R):c.904G>T (p.Glu302Ter) SNV Pathogenic
 635842 rs774794966 GRCh37: 15:99434817-99434817
GRCh38: 15:98891588-98891588
11 IGF1R NM_000875.5(IGF1R):c.3454G>A (p.Gly1152Arg) SNV Pathogenic
 635846 rs1596472892 GRCh37: 15:99482586-99482586
GRCh38: 15:98939357-98939357
12 IGF1R NM_000875.5(IGF1R):c.1247+1dup DUP Pathogenic
 635844 rs1596413181 GRCh37: 15:99442848-99442849
GRCh38: 15:98899619-98899620
13 IGF1 IGF1, EX4-5DEL DEL Pathogenic
 14787 GRCh37:
GRCh38:
14 IGF1R NM_000875.5(IGF1R):c.1464T>G (p.Cys488Trp) SNV Pathogenic
 1310141 GRCh37: 15:99454545-99454545
GRCh38: 15:98911316-98911316
15 IGF1R NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs) MICROSAT Pathogenic
 1188841 GRCh37: 15:99465494-99465495
GRCh38: 15:98922265-98922266
16 IGF1, LINC02456 NM_000618.5(IGF1):c.274G>A (p.Val92Met) SNV Pathogenic
 14789 rs121912430 GRCh37: 12:102813415-102813415
GRCh38: 12:102419637-102419637
17 IGF1, LINC02456 NM_000618.5(IGF1):c.292C>T (p.Arg98Trp) SNV Pathogenic
 127243 rs587779350 GRCh37: 12:102813397-102813397
GRCh38: 12:102419619-102419619
18 IGF1R NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) SNV Pathogenic
 1172619 GRCh37: 15:99440125-99440125
GRCh38: 15:98896896-98896896
19 IGF1R NM_000875.5(IGF1R):c.3457+1dup DUP Likely Pathogenic
 1705371 GRCh37: 15:99482588-99482589
GRCh38: 15:98939359-98939360
20 IGF1R NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) SNV Likely Pathogenic
 977609 rs1173681603 GRCh37: 15:99465432-99465432
GRCh38: 15:98922203-98922203
21 IGF1, LINC02456 NM_000618.5(IGF1):c.156dup (p.Leu53fs) DUP Likely Pathogenic
 816823 rs1592837549 GRCh37: 12:102869484-102869485
GRCh38: 12:102475706-102475707
22 IGF1, LINC02456 NM_000618.5(IGF1):c.285C>A (p.Cys95Ter) SNV Likely Pathogenic
 829837 rs3730193 GRCh37: 12:102813404-102813404
GRCh38: 12:102419626-102419626
23 IGF1R NM_000875.5(IGF1R):c.824G>A (p.Arg275His) SNV Likely Pathogenic
 1527907 GRCh37: 15:99434737-99434737
GRCh38: 15:98891508-98891508
24 IGF1R NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr) SNV Likely Pathogenic
 998001 rs2015098252 GRCh37: 15:99456415-99456415
GRCh38: 15:98913186-98913186
25 IGF1R NM_000875.5(IGF1R):c.3162G>A (p.Met1054Ile) SNV Likely Pathogenic
 635845 rs1596468719 GRCh37: 15:99478258-99478258
GRCh38: 15:98935029-98935029
26 IGF1R NM_000875.5(IGF1R):c.3539C>A (p.Ser1180Tyr) SNV Likely Pathogenic
 635847 rs1596476163 GRCh37: 15:99486233-99486233
GRCh38: 15:98943004-98943004
27 IGF1R NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys) SNV Likely Pathogenic
 635840 rs1596214066 GRCh37: 15:99250814-99250814
GRCh38: 15:98707585-98707585
28 IGF1R NM_000875.5(IGF1R):c.995G>A (p.Cys332Tyr) SNV Likely Pathogenic
 635843 rs1596409872 GRCh37: 15:99440027-99440027
GRCh38: 15:98896798-98896798
29 IGF1R NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) SNV Conflicting Interpretations Of Pathogenicity
 635848 rs1596476159 GRCh37: 15:99486224-99486224
GRCh38: 15:98942995-98942995
30 IGF1R NM_000875.5(IGF1R):c.*2426del DEL Conflicting Interpretations Of Pathogenicity
 317531 rs398028512 GRCh37: 15:99503084-99503084
GRCh38: 15:98959855-98959855
31 IGF1R NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) SNV Conflicting Interpretations Of Pathogenicity
 282332 rs117440569 GRCh37: 15:99452002-99452002
GRCh38: 15:98908773-98908773
32 IGF1R NM_000875.5(IGF1R):c.3975C>T (p.Ala1325=) SNV Uncertain Significance
 755020 rs70958400 GRCh37: 15:99500542-99500542
GRCh38: 15:98957313-98957313
33 IGF1R NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) SNV Uncertain Significance
 195568 rs141802822 GRCh37: 15:99500576-99500576
GRCh38: 15:98957347-98957347
34 IGF1R NM_000875.5(IGF1R):c.1247+3A>G SNV Uncertain Significance
 716705 rs55895813 GRCh37: 15:99442853-99442853
GRCh38: 15:98899624-98899624
35 IGF1, LINC02456 NM_000618.5(IGF1):c.90G>A (p.Ser30=) SNV Uncertain Significance
 880616 rs374228630 GRCh37: 12:102869551-102869551
GRCh38: 12:102475773-102475773
36 IRAIN, IGF1R NM_000875.5(IGF1R):c.84G>A (p.Thr28=) SNV Uncertain Significance
 501270 rs372748482 GRCh37: 15:99192894-99192894
GRCh38: 15:98649665-98649665
37 IGF1R NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) SNV Uncertain Significance
 284570 rs56248469 GRCh37: 15:99456467-99456467
GRCh38: 15:98913238-98913238
38 IGF1R NM_000875.5(IGF1R):c.1976G>A (p.Arg659Gln) SNV Uncertain Significance
 884758 rs45451896 GRCh37: 15:99459340-99459340
GRCh38: 15:98916111-98916111
39 IGF1R NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) SNV Uncertain Significance
 317454 rs757589571 GRCh37: 15:99467876-99467876
GRCh38: 15:98924647-98924647
40 IGF1R NM_000875.5(IGF1R):c.641-14C>T SNV Uncertain Significance
 317440 rs200261849 GRCh37: 15:99434540-99434540
GRCh38: 15:98891311-98891311
41 IGF1R NM_000875.5(IGF1R):c.1462+15C>G SNV Uncertain Significance
 317446 rs34313885 GRCh37: 15:99452143-99452143
GRCh38: 15:98908914-98908914
42 IGF1R NM_000875.5(IGF1R):c.3594C>T (p.Phe1198=) SNV Uncertain Significance
 317458 rs35701313 GRCh37: 15:99491809-99491809
GRCh38: 15:98948580-98948580
43 IGF1R NM_000875.5(IGF1R):c.2730C>T (p.Leu910=) SNV Uncertain Significance
 750627 rs764448697 GRCh37: 15:99467861-99467861
GRCh38: 15:98924632-98924632
44 IGF1R NM_000875.5(IGF1R):c.2810T>C (p.Ile937Thr) SNV Uncertain Significance
 1709246 GRCh37: 15:99472814-99472814
GRCh38: 15:98929585-98929585
45 IGF1R NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) SNV Uncertain Significance
 14794 rs33958176 GRCh37: 15:99454613-99454613
GRCh38: 15:98911384-98911384
46 IGF1, LINC02456 NM_000618.5(IGF1):c.207G>A (p.Arg69=) SNV Uncertain Significance
 195095 rs147960415 GRCh37: 12:102869434-102869434
GRCh38: 12:102475656-102475656
47 IGF1R NM_000875.5(IGF1R):c.1194C>T (p.Ser398=) SNV Uncertain Significance
 708118 rs35315829 GRCh37: 15:99442797-99442797
GRCh38: 15:98899568-98899568
48 IGF1R NM_000875.5(IGF1R):c.1500G>A (p.Thr500=) SNV Uncertain Significance
 596864 rs370500527 GRCh37: 15:99454581-99454581
GRCh38: 15:98911352-98911352
49 IGF1R NM_000875.5(IGF1R):c.1503G>A (p.Ser501=) SNV Uncertain Significance
 792337 rs562335164 GRCh37: 15:99454584-99454584
GRCh38: 15:98911355-98911355
50 IGF1R NM_000875.5(IGF1R):c.3187-5C>T SNV Uncertain Significance
 501967 rs45495500 GRCh37: 15:99478540-99478540
GRCh38: 15:98935311-98935311

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

73
# 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

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Expression for Insulin-Like Growth Factor I

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

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

(show top 50) (show all 76)
# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 66
Show member pathways
 13.98 INS IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2
2
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.88 ITGB3 ITGAV INSR INS IGF2R IGF2
3
ERK Signaling 64
Show member pathways
 13.86 ITGB3 ITGAV INSR IGF2R IGF2 IGF1R
4
Signal Transduction 66
13.81 AKT1 AKT2 IGF1 IGF1R IGF2 INS
5
GPCR Pathway 64
Show member pathways
 13.75 ITGB3 ITGAV INSR IGF2R IGF2 IGF1R
6
Activation of cAMP-Dependent PKA 64
Show member pathways
 13.59 AKT1 AKT2 GH1 IGF1 IGF1R IGF2
7
TGF-Beta Pathway 64
Show member pathways
 13.55 AKT1 AKT2 GH1 GHR IGF1 IGF1R
8
Akt Signaling 64
Show member pathways
 13.45 ITGB3 ITGAV INSR IGF2 IGF1R IGF1
9
CREB Pathway 64
Show member pathways
 13.35 INSR IGF2R IGF2 IGF1R IGF1 GH1
10
PAK Pathway 64
Show member pathways
 13.34 IGF2R IGF2 IGF1R IGF1 GH1 AKT2
11
p70S6K Signaling 64
Show member pathways
 13.09 AKT1 GH1 IGF1 IGF1R IGF2 IGF2R
12
Phospholipase-C Pathway 64
Show member pathways
 13.04 ITGB3 ITGAV IGF2R IGF2 IGF1R IGF1
13
Beta-Adrenergic Signaling 64
Show member pathways
 12.91 ITGB3 ITGAV INSR INS IGF2R IGF1R
14
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.88 AKT1 AKT2 IGF1 IGF1R IGF2 INSR
15
Signaling by Receptor Tyrosine Kinases 66
12.78 ITGB3 ITGAV INSR INS IGF2 IGF1R
16
Insulin receptor signalling cascade 66
Show member pathways
 12.77 INSR INS IGF2 IGF1R IGF1 AKT2
17
PI3K-Akt signaling pathway 74
Show member pathways
 12.7 AKT1 AKT2 GH1 GHR IGF1 IGF1R
18
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.69 IGF2R IGF2 IGF1R IGF1 GH1 AKT2
19
Translation Insulin regulation of translation 22
Show member pathways
 12.67 AKT1 AKT2 GH1 GHR IGF1 IGF1R
20
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.6 ITGB3 ITGAV AKT2 AKT1
21
Myometrial relaxation and contraction pathways 74
Show member pathways
 12.59 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
22
Malignant pleural mesothelioma 74
12.59 ITGB3 ITGAV INSR INS IGF2 IGF1R
23
Angiopoietin-like protein 8 regulatory pathway 74
Show member pathways
 12.53 INSR IGF1R AKT2 AKT1
24
Autophagy pathway 67
Show member pathways
 12.52 IGF1R INS INSR ITGAV ITGB3
25
Breast cancer pathway 74
Show member pathways
 12.48 IGF1R IGF1 AKT2 AKT1
26
NF-kappaB Pathway 70
Show member pathways
 12.48 ITGAV INSR IGF2R IGF1R AKT2 AKT1
27
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.43 ITGB3 ITGAV AKT2 AKT1
28
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.43 ITGB3 ITGAV INSR IGF2 IGF1R IGF1
29
Glucose / Energy Metabolism 3
12.4 INSR INS IGFBP3 IGFBP2 IGFBP1 IGF2R
30
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.39 INSR IGF1R IGF1 AKT2 AKT1
31
Apoptosis and survival FAS signaling cascades 22
Show member pathways
 12.38 IGF1R IGF1 AKT2 AKT1
32
Signaling by VEGF 66
Show member pathways
 12.35 ITGB3 ITGAV AKT2 AKT1
33
Focal adhesion 74
12.33 ITGB3 ITGAV IGF1R IGF1 AKT2 AKT1
34
Integrin-mediated cell adhesion 74
Show member pathways
 12.3 AKT1 AKT2 ITGAV ITGB3
35
Ras signaling 74
12.28 INSR IGF1R AKT2 AKT1
36
VEGF Signaling Pathway 60 67
Show member pathways
 12.25 ITGB3 ITGAV AKT2 AKT1
37
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.24 INSR INS AKT2 AKT1
38
Apoptosis and survival BAD phosphorylation 22
Show member pathways
 12.21 IGF1R IGF1 AKT2 AKT1
39
MAPK Signaling: Mitogens 65
Show member pathways
 12.19 ITGB3 ITGAV INSR IGF2R IGF1R AKT2
40
FOXO-mediated transcription 66
Show member pathways
 12.17 INS IGFBP1 AKT2 AKT1
41
MicroRNAs in cardiomyocyte hypertrophy 74
Show member pathways
 12.17 IGF1R IGF1 AKT2 AKT1
42
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.16 IGF1R IGF1 AKT2 AKT1
43
mTOR Signaling 65
12.16 INSR IGF2R IGF1R AKT2 AKT1
44
AMP-activated protein kinase signaling 74
Show member pathways
 12.15 AKT1 AKT2 INS INSR
45
Ebola virus infection in host 74
12.1 ITGB3 ITGAV IGF1R AKT1
46
Endochondral ossification 74
Show member pathways
 12.01 IGF2 IGF1R IGF1 GHR GH1 AKT1
47
Senescence and autophagy in cancer 74
11.99 INS IGFBP5 IGFBP3 IGF1R IGF1
48
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 66
Show member pathways
 11.98 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
49
Small cell lung cancer 74
11.91 ITGAV AKT2 AKT1
50
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.9 INS IGFBP3 IGF1
Sources

GO Terms for Insulin-Like Growth Factor I

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.45 GH1 GHR IGF1 IGF2 IGFALS IGFBP1
2 extracellular space GO:0005615 10.35 GH1 GHR IGF1 IGF2 IGF2R IGFALS
3 endoplasmic reticulum lumen GO:0005788 10.19 INS IGFBP5 IGFBP4 IGFBP3 IGFBP1
4 insulin receptor complex GO:0005899 9.78 INSR IGF1R
5 alphav-beta3 integrin-HMGB1 complex GO:0035868 9.76 ITGB3 ITGAV
6 alphav-beta3 integrin-PKCalpha complex GO:0035866 9.73 ITGB3 ITGAV
7 integrin alphav-beta3 complex GO:0034683 9.71 ITGB3 ITGAV
8 insulin-like growth factor binding protein complex GO:0016942 9.63 IGFBP5 IGFBP3 IGF1
9 growth hormone receptor complex GO:0070195 9.62 GH1 GHR
10 insulin-like growth factor ternary complex GO:0042567 9.56 IGFBP5 IGFBP3 IGFALS IGF1
11 alphav-beta3 integrin-IGF-1-IGF1R complex GO:0035867 9.23 ITGB3 ITGAV IGF1R IGF1

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.54 AKT1 AKT2 GH1 IGF1 IGF1R IGF2R
2 positive regulation of cell population proliferation GO:0008284 10.45 AKT1 AKT2 IGF1 IGF1R IGF2 INS
3 positive regulation of protein phosphorylation GO:0001934 10.34 ITGB3 INSR IGF2 AKT2 AKT1
4 positive regulation of cell migration GO:0030335 10.29 ITGB3 ITGAV INSR INS IGF1R IGF1
5 negative regulation of canonical Wnt signaling pathway GO:0090090 10.28 IGFBP6 IGFBP4 IGFBP2 IGFBP1
6 positive regulation of MAPK cascade GO:0043410 10.27 IGF1 IGF1R IGF2 IGFBP3 IGFBP4 IGFBP6
7 osteoblast differentiation GO:0001649 10.26 IGFBP5 IGFBP3 IGF2 AKT1
8 glucose homeostasis GO:0042593 10.26 INSR INS IGFBP5 IGF1R AKT1
9 aging GO:0007568 10.23 IGFBP5 IGFBP2 IGFBP1 IGF1R
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 10.22 ITGB3 IGF2 IGF1 GHR GH1
11 positive regulation of protein kinase B signaling GO:0051897 10.21 IGF1 IGF1R IGF2 IGFBP5 INS INSR
12 glucose metabolic process GO:0006006 10.19 AKT1 AKT2 IGF2 INS
13 positive regulation of smooth muscle cell proliferation GO:0048661 10.19 ITGB3 IGF1R IGF1 AKT1
14 cellular response to insulin stimulus GO:0032869 10.19 INSR IGF1R GHR AKT2 AKT1
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.19 GH1 IGF1 IGF1R INS INSR
16 phosphatidylinositol 3-kinase signaling GO:0014065 10.15 IGF1R IGF1 AKT1
17 positive regulation of multicellular organism growth GO:0040018 10.13 GH1 GHR IGF2
18 activation of protein kinase B activity GO:0032148 10.12 INSR INS IGF1
19 positive regulation of activated T cell proliferation GO:0042104 10.11 IGF1 IGF2 IGFBP2
20 response to organic cyclic compound GO:0014070 10.11 IGFBP5 IGFBP4 IGFBP2 IGFBP1
21 positive regulation of mitotic nuclear division GO:0045840 10.11 INSR INS IGF2 IGF1
22 carbohydrate metabolic process GO:0005975 10.1 INSR INS IGF2 AKT2 AKT1
23 positive regulation of glucose import GO:0046326 10.1 INSR INS IGF1 AKT2 AKT1
24 insulin receptor signaling pathway GO:0008286 10.1 AKT1 AKT2 IGF1R IGF2 IGFBP1 INS
25 protein kinase B signaling GO:0043491 10.09 IGF1 AKT2 AKT1
26 positive regulation of glycolytic process GO:0045821 10.09 IGF1 INS INSR
27 striated muscle cell differentiation GO:0051146 10.08 IGFBP5 IGF2 AKT1
28 type B pancreatic cell proliferation GO:0044342 10.08 IGFBP5 IGFBP4 IGFBP3
29 positive regulation of osteoblast proliferation GO:0033690 10.05 ITGB3 ITGAV IGF1R
30 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 10.02 IGFBP5 IGFBP4 IGFBP3 IGF1 GH1
31 exocrine pancreas development GO:0031017 9.99 IGF2 INSR
32 positive regulation of respiratory burst GO:0060267 9.98 INS INSR
33 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.98 ITGAV ITGB3
34 apolipoprotein A-I-mediated signaling pathway GO:0038027 9.97 ITGB3 ITGAV
35 positive regulation of protein-containing complex disassembly GO:0043243 9.97 IGF1R INSR
36 response to growth hormone GO:0060416 9.97 AKT1 GHR IGFBP5
37 negative regulation of lipid transport GO:0032369 9.96 ITGB3 ITGAV
38 negative regulation of long-chain fatty acid import across plasma membrane GO:0010748 9.96 AKT2 AKT1
39 positive regulation of glycogen biosynthetic process GO:0045725 9.93 INSR INS IGF2 IGF1 AKT2 AKT1
40 negative regulation of lipoprotein metabolic process GO:0050748 9.92 ITGB3 ITGAV
41 regulation of growth GO:0040008 9.79 IGFBP5 IGFBP4 IGFBP3
42 insulin-like growth factor receptor signaling pathway GO:0048009 9.77 AKT1 GHR IGF1 IGF1R IGF2 IGF2R
43 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.4 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor I binding GO:0031994 10.16 IGF1R IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5
2 integrin binding GO:0005178 10.14 ITGB3 ITGAV IGF2 IGF1
3 hormone activity GO:0005179 10.08 INS IGF2 IGF1 GH1
4 fibronectin binding GO:0001968 10.02 IGFBP3 IGFBP5 IGFBP6 ITGAV ITGB3
5 insulin receptor binding GO:0005158 10.01 INS IGF2 IGF1R IGF1
6 insulin-like growth factor receptor binding GO:0005159 9.97 INSR INS IGF2 IGF1
7 growth factor binding GO:0019838 9.86 IGFBP6 IGFBP5 IGFBP4 IGFBP3 IGFBP2 IGFBP1
8 insulin binding GO:0043559 9.83 INSR IGF1R
9 neuregulin binding GO:0038132 9.81 ITGB3 ITGAV
10 C-X3-C chemokine binding GO:0019960 9.8 ITGB3 ITGAV
11 insulin-like growth factor binding GO:0005520 9.8 IGF1R IGF2R IGFALS IGFBP1 IGFBP2 IGFBP3
12 insulin receptor activity GO:0005009 9.76 IGF1R INSR
13 insulin-like growth factor receptor activity GO:0005010 9.73 IGF1R IGF2R
14 insulin-like growth factor II binding GO:0031995 9.53 IGF2R IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5
Sources

Sources for Insulin-Like Growth Factor I

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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