MCID: INS008
MIFTS: 32

Insulin-Like Growth Factor I Deficiency malady

Endocrine diseases, Neuronal diseases, Ear diseases categories

Summaries for Insulin-Like Growth Factor I Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 prostatitis and pancreatitis, and has symptoms including chromosomal or genetic anomaly, short hand/brachydactyly and pectus excavatum. An important gene associated with Insulin-Like Growth Factor I Deficiency is IGF1R (insulin-like growth factor 1 receptor).

Description from OMIM:46 270450

Aliases & Classifications for Insulin-Like Growth Factor I Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 44Novoseek, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

insulin-like growth factor i deficiency 42 20 22 60
igf1 deficiency 42 44
growth retardation with sensorineural deafness and mental retardation 42
growth delay due to insulin-like growth factor i resistance 48
insulin-like growth factor i 46
resistance to igf-1 48


External Ids:

OMIM46 270450
ICD10 via Orphanet26 E34.3

Related Diseases for Insulin-Like Growth Factor I Deficiency

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17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

270450

Clinical synopsis from OMIM:

270450

Symptoms:

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

Drugs & Therapeutics for Insulin-Like Growth Factor I Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Insulin-Like Growth Factor I Deficiency

Genetic Tests for Insulin-Like Growth Factor I Deficiency

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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

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

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Publications for Insulin-Like Growth Factor I Deficiency

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Genetic Variations for Insulin-Like Growth Factor I Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Insulin-Like Growth Factor I Deficiency:

62
id Symbol AA change Variation ID SNP ID
1IGF1Rp.Arg138GlnVAR_034891
2IGF1Rp.Lys145AsnVAR_034892
3IGF1Rp.Arg739GlnVAR_034895

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Insulin-Like Growth Factor I Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet