MCID: GRW003
MIFTS: 18

Growth Hormone Insensitivity with Immunodeficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases, Immune diseases categories
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Summaries for Growth Hormone Insensitivity with Immunodeficiency

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MalaCards based summary: Growth Hormone Insensitivity with Immunodeficiency, is also known as growth hormone insensitivity due to postreceptor defect and has symptoms including 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, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Growth Hormone Insensitivity with Immunodeficiency, Aliases & Descriptions:

Name: Growth Hormone Insensitivity with Immunodeficiency 42 20 22 46 62
Growth Hormone Insensitivity Due to Postreceptor Defect 42 62
Laron Syndrome Due to Postreceptor Defect 42 62
 
Short Stature Due to Stat5b Deficiency 48
Laron Syndrome with Immunodeficiency 48
Laron-Like Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 245590
ICD10 via Orphanet26 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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Clinical features from OMIM:

245590

HPO human phenotypes related to Growth Hormone Insensitivity with Immunodeficiency:

id Description Frequency HPO Source Accession
1 growth hormone deficiency HP:0000824
2 respiratory difficulties HP:0002880
3 severe short stature HP:0003510

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

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Drug clinical trials:

Search ClinicalTrials for Growth Hormone Insensitivity with Immunodeficiency

Search NIH Clinical Center for Growth Hormone Insensitivity with Immunodeficiency

Genetic Tests for Growth Hormone Insensitivity with Immunodeficiency

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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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Variations for Growth Hormone Insensitivity with Immunodeficiency

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UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

64
id Symbol AA change Variation ID SNP ID
1STAT5Bp.Ala630ProVAR_018728
2STAT5Bp.Phe646SerVAR_067368

Clinvar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet