MCID: GRW003
MIFTS: 13

Growth Hormone Insensitivity with Immunodeficiency malady

Endocrine, Blood, Immune categories

Summaries for Growth Hormone Insensitivity with Immunodeficiency

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export 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

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

Classifications:

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


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

Clinical Features for Growth Hormone Insensitivity with Immunodeficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

245590

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

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

Animal Models for Growth Hormone Insensitivity with Immunodeficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Growth Hormone Insensitivity with Immunodeficiency

Genetic Variations for Growth Hormone Insensitivity with Immunodeficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

63
id Symbol AA change Variation SNP ID
1STAT5Bp.Ala630ProVAR_018728
2STAT5Bp.Phe646SerVAR_067368

Expression for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

Sources:
1BioGPS, 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

Compounds for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

GO Terms for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

Products for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Growth Hormone Insensitivity with Immunodeficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet