MCID: GRW003
MIFTS: 18

Growth Hormone Insensitivity with Immunodeficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases, Immune diseases categories

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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48OMIM, 34MalaCards
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MalaCards: Growth Hormone Insensitivity with Immunodeficiency, is also known as growth hormone insensitivity due to postreceptor defect An important gene associated with Growth Hormone Insensitivity with Immunodeficiency is STAT5B (signal transducer and activator of transcription 5B).

Description from OMIM:48 245590

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

growth hormone insensitivity with immunodeficiency 44 21 23 48
growth hormone insensitivity due to postreceptor defect 44
laron syndrome due to postreceptor defect 44
short stature due to stat5b deficiency 50
laron syndrome with immunodeficiency 50
laron-like syndrome 50


External Ids:

OMIM48 245590
ICD10 via Orphanet27 D82.8, E34.3

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

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Symptoms for Growth Hormone Insensitivity with Immunodeficiency

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48OMIM
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Clinical features from OMIM:

245590

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Growth Hormone Insensitivity with Immunodeficiency

Drug clinical trials:

Search ClinicalTrials for Growth Hormone Insensitivity with Immunodeficiency

Search NIH Clinical Center for Growth Hormone Insensitivity with Immunodeficiency

Search CenterWatch for Growth Hormone Insensitivity with Immunodeficiency

Genetic Tests for Growth Hormone Insensitivity with Immunodeficiency

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21GeneTests, 23GTR
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Genetic tests related to Growth Hormone Insensitivity with Immunodeficiency:

id Genetic test Affiliating Genes
1 Growth Hormone Insensitivity with Immunodeficiency21 23 STAT5B

Anatomical Context for Growth Hormone Insensitivity with Immunodeficiency

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Animal Models for Growth Hormone Insensitivity with Immunodeficiency or affiliated genes

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Publications for Growth Hormone Insensitivity with Immunodeficiency

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Variations for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

65
id Symbol AA change Variation ID SNP ID
1STAT5Bp.Ala630ProVAR_018728
2STAT5Bp.Phe646SerVAR_067368

Clinvar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1STAT5BNM_012448.3(STAT5B): c.1888G> C (p.Ala630Pro)single nucleotide variantPathogenicrs121908501GRCh37Chr 17, 40362207: 40362207
2STAT5BSTAT5B, 1-BP INS, 1191GinsertionPathogenic
3STAT5BSTAT5B, 1-BP INS, 1102CinsertionPathogenic
4STAT5BNM_012448.3(STAT5B): c.454C> T (p.Arg152Ter)single nucleotide variantPathogenicrs121908502GRCh37Chr 17, 40375496: 40375496
5STAT5BSTAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTIONdeletionPathogenic

Expression for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

Search GEO for disease gene expression data for Growth Hormone Insensitivity with Immunodeficiency.

Pathways for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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Compounds for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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GO Terms for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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Products for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Growth Hormone Insensitivity with Immunodeficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet