MCID: INS008
MIFTS: 25

Insulin-Like Growth Factor I Deficiency malady

Endocrine, Neuronal, Ear categories

Summaries for Insulin-Like Growth Factor I Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Insulin-like growth factor 1 (IGF-1), also called somatomedin C, is a protein that in humans is encoded... more...

MalaCards: Insulin-Like Growth Factor I Deficiency, also known as igf1 deficiency, is related to colorectal cancer and hypoxia, and has symptoms including chromosomal or genetic anomaly, autosomal dominant inheritance and autosomal recessive inheritance. An important gene associated with Insulin-Like Growth Factor I Deficiency is IGF1R (insulin-like growth factor 1 receptor).

Description from OMIM:47 270450

Aliases & Classifications for Insulin-Like Growth Factor I Deficiency

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 45Novoseek, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine, Neuronal, Ear


Characteristics (Orphanet epidemiological data):

49
growth delay due to insulin-like growth factor i resistance:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

insulin-like growth factor i deficiency 43 20 22 61
igf1 deficiency 43 45
growth retardation with sensorineural deafness and mental retardation 43
growth delay due to insulin-like growth factor i resistance 49
insulin-like growth factor i 47
resistance to igf-1 49


External Ids:

OMIM47 270450
ICD10 via Orphanet26 E34.3

Related Diseases for Insulin-Like Growth Factor I Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Insulin-Like Growth Factor I Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer10.9
2hypoxia10.8
3lateral sclerosis10.7
4osteoarthritis10.7
5amyotrophic lateral sclerosis10.7
6somatostatin analog10.7
7wilms tumor10.6
8vascular cancer10.6
9acute insulin response10.6
10stroke, ischemic10.5
11teratocarcinoma10.5
12renal clear cell carcinoma10.5
13acute myeloid leukemia10.5
14graves' disease10.5
15acne10.5
16clear cell renal cell carcinoma10.5
17estrogen-receptor positive breast cancer10.4
18diffuse idiopathic skeletal hyperostosis10.4
19obstructive jaundice10.4
20alveolar rhabdomyosarcoma10.4
21rickets10.4
22acquired immunodeficiency syndrome10.4
23hepatitis b10.4
24kaposi's sarcoma10.4
25squamous cell carcinoma10.4
26thyroid cancer10.4
27vitreous disease10.4
28sickle cell disease10.4
29oral cancer10.4
30cardiovascular disease risk factor10.4
31ataxia10.4
32diabetes mellitus, noninsulin-dependent10.4
33pancreatic cancer 110.4
34estrogen resistance10.4
35solitary fibrous tumor10.4
36amyloidosis10.3
37angina pectoris10.3
38osteoporotic fracture10.3
39coronary artery disease,10.3
40endemic goiter10.3
41proliferative diabetic retinopathy10.3
42crohn's disease10.3
43ovarian stromal hyperthecosis10.3
44carotid stenosis10.3
45estrogen-receptor negative breast cancer10.3
46antiphospholipid syndrome10.3
47polycythemia vera10.3
48papillary carcinoma10.3
49olivopontocerebellar atrophy10.3
50eclampsia10.3

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



Diseases related to insulin-like growth factor i deficiency

Clinical Features for Insulin-Like Growth Factor I Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

270450

Clinical synopsis from OMIM:

270450

Symptoms:

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

Drugs & Therapeutics for Insulin-Like Growth Factor I Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Insulin-Like Growth Factor I Deficiency

Drug clinical trials:

Search ClinicalTrials for Insulin-Like Growth Factor I Deficiency

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

Search CenterWatch for Insulin-Like Growth Factor I Deficiency

Genetic Tests for Insulin-Like Growth Factor I Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Insulin-Like Growth Factor I Deficiency:

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

Anatomical Context for Insulin-Like Growth Factor I Deficiency

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

Sources:
28inGenious Targeting Laboratory
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Publications for Insulin-Like Growth Factor I Deficiency

Genetic Variations for Insulin-Like Growth Factor I Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Insulin-Like Growth Factor I Deficiency:

63
id Symbol AA change Variation SNP ID
1IGF1Rp.Arg138GlnVAR_034891
2IGF1Rp.Lys145AsnVAR_034892
3IGF1Rp.Arg739GlnVAR_034895

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Insulin-Like Growth Factor I Deficiency

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Insulin-Like Growth Factor I Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet