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 51 47 24 69 26 12
Growth Hormone Insensitivity Due to Postreceptor Defect 47 69
Laron Syndrome Due to a Post-Receptor Defect 69
Laron Syndrome Due to Postreceptor Defect 47
Short Stature Due to Stat5b Deficiency 53
 
Laron Syndrome with Immunodeficiency 53
Laron Type Dwarfism Ii 69
Laron Syndrome Type Ii 69
Laron-Like Syndrome 53
Ghii 69

Characteristics:

Orphanet epidemiological data:

53
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

OMIM51 245590
Orphanet53 ORPHA220465
ICD10 via Orphanet30 D82.8, E34.3
MedGen36 C1855548
MeSH38 D046150

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Growth Hormone Insensitivity with Immunodeficiency:

 63
id Description HPO Frequency HPO Source Accession
1 growth hormone deficiency63 HP:0000824
2 respiratory difficulties63 HP:0002880
3 severe short stature63 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 Immunodeficiency26 24 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:

69
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)SNVPathogenicrs121908501GRCh37Chr 17, 40362207: 40362207
2STAT5BSTAT5B, 1-BP INS, 1191GinsertionPathogenicChr na, -1: -1
3STAT5BSTAT5B, 1-BP INS, 1102CinsertionPathogenicChr na, -1: -1
4STAT5BNM_012448.3(STAT5B): c.454C> T (p.Arg152Ter)SNVPathogenicrs121908502GRCh37Chr 17, 40375496: 40375496
5STAT5BSTAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTIONdeletionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet