MCID: GRW003
MIFTS: 19

Growth Hormone Insensitivity with Immunodeficiency malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Blood diseases, Immune 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 50 46 23 68 25 12
Growth Hormone Insensitivity Due to Postreceptor Defect 46 68
Laron Syndrome Due to a Post-Receptor Defect 68
Laron Syndrome Due to Postreceptor Defect 46
Short Stature Due to Stat5b Deficiency 52
 
Laron Syndrome with Immunodeficiency 52
Laron Type Dwarfism Ii 68
Laron Syndrome Type Ii 68
Laron-Like Syndrome 52
Ghii 68

Characteristics:

Orphanet epidemiological data:

52
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

OMIM50 245590
Orphanet52 ORPHA220465
ICD10 via Orphanet29 D82.8, E34.3
MedGen35 C1855548
MeSH37 D046150

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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UniProtKB/Swiss-Prot:68 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 growth hormone deficiency, respiratory difficulties and severe short stature. An important gene associated with Growth Hormone Insensitivity with Immunodeficiency is STAT5B (Signal Transducer And Activator Of Transcription 5B).

Description from OMIM:50 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 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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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 Immunodeficiency25 23 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:

68
id Symbol AA change Variation ID SNP ID
1STAT5Bp.Ala630ProVAR_018728rs121908501
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet