MCID: GRW003
MIFTS: 16

Growth Hormone Insensitivity with Immunodeficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Endocrine diseases

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

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Aliases & Descriptions for Growth Hormone Insensitivity with Immunodeficiency:

Name: Growth Hormone Insensitivity with Immunodeficiency 49 11 45 22 67 24
Growth Hormone Insensitivity Due to Postreceptor Defect 45 67
Laron Syndrome Due to a Post-Receptor Defect 67
Laron Syndrome Due to Postreceptor Defect 45
 
Laron Type Dwarfism Ii 67
Laron Syndrome Type Ii 67
Ghii 67

Classifications:



External Ids:

OMIM49 245590
MedGen34 C1855548
MeSH36 D046150

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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UniProtKB/Swiss-Prot:67 Growth hormone insensitivity with immunodeficiency: A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections.

MalaCards based summary: Growth Hormone Insensitivity with Immunodeficiency, is also known as growth hormone insensitivity due to postreceptor defect, and has symptoms including severe short stature, respiratory difficulties and growth hormone deficiency. An important gene associated with Growth Hormone Insensitivity with Immunodeficiency is STAT5B (Signal Transducer And Activator Of Transcription 5B).

Description from OMIM:49 245590

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 severe short stature HP:0003510
2 respiratory difficulties HP:0002880
3 growth hormone deficiency HP:0000824

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

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Interventional clinical trials:

Search ClinicalTrials, 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 Immunodeficiency22 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:

67
id Symbol AA change Variation ID SNP ID
1STAT5Bp.Ala630ProVAR_018728
2STAT5Bp.Phe646SerVAR_067368

Clinvar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

5
id Gene Variation 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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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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GO Terms for genes affiliated with Growth Hormone Insensitivity with Immunodeficiency

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Sources for Growth Hormone Insensitivity with Immunodeficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet