MCID: GRW003
MIFTS: 18

Growth Hormone Insensitivity with Immunodeficiency malady

Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases, Immune diseases categories
Download this MalaCard

Summaries for Growth Hormone Insensitivity with Immunodeficiency

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 245590

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

growth hormone insensitivity with immunodeficiency 43 20 22 47
growth hormone insensitivity due to postreceptor defect 43
laron syndrome due to postreceptor defect 43
short stature due to stat5b deficiency 49
laron syndrome with immunodeficiency 49
laron-like syndrome 49


External Ids:

OMIM47 245590
ICD10 via Orphanet26 D82.8, E34.3

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

About this section

Symptoms for Growth Hormone Insensitivity with Immunodeficiency

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

245590

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

Animal Models for Growth Hormone Insensitivity with Immunodeficiency or affiliated genes

About this section

Publications for Growth Hormone Insensitivity with Immunodeficiency

About this section

Variations for Growth Hormone Insensitivity with Immunodeficiency

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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:

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

About this section

GO Terms for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

About this section

Products for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Growth Hormone Insensitivity with Immunodeficiency

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet