MCID: GRW003
MIFTS: 19

Growth Hormone Insensitivity with Immunodeficiency malady

Endocrine diseases, Blood diseases, Immune diseases categories

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
46OMIM, 32MalaCards
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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:46 245590

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

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

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases, Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

growth hormone insensitivity with immunodeficiency 42 20 22 46
growth hormone insensitivity due to postreceptor defect 42
laron syndrome due to postreceptor defect 42
short stature due to stat5b deficiency 48
laron syndrome with immunodeficiency 48
laron-like syndrome 48


External Ids:

OMIM46 245590
ICD10 via Orphanet26 D82.8, E34.3

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

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Clinical Features for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
46OMIM
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Clinical features from OMIM:

245590

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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Genetic tests related to Growth Hormone Insensitivity with Immunodeficiency:

id Genetic test Affiliating Genes
1 Growth Hormone Insensitivity with Immunodeficiency20 22 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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Genetic Variations for Growth Hormone Insensitivity with Immunodeficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

62
id Symbol AA change Variation ID SNP ID
1STAT5Bp.Ala630ProVAR_018728
2STAT5Bp.Phe646SerVAR_067368

Expression for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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Sources:
1BioGPS, 15Gene 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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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