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 52 48 24 70 27 12
Growth Hormone Insensitivity Due to Postreceptor Defect 48 70
Laron Syndrome Due to a Post-Receptor Defect 70
Laron Syndrome Due to Postreceptor Defect 48
Short Stature Due to Stat5b Deficiency 54
 
Laron Syndrome with Immunodeficiency 54
Laron Type Dwarfism Ii 70
Laron Syndrome Type Ii 70
Laron-Like Syndrome 54
Ghii 70

Characteristics:

Orphanet epidemiological data:

54
short stature due to stat5b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

OMIM52 245590
Orphanet54 ORPHA220465
ICD10 via Orphanet31 D82.8, E34.3
MedGen37 C1855548
MeSH39 D046150

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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UniProtKB/Swiss-Prot:70 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:52 245590

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

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Symptoms & Phenotypes for Growth Hormone Insensitivity with Immunodeficiency

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Clinical features from OMIM:

245590

Human phenotypes related to Growth Hormone Insensitivity with Immunodeficiency:

 64
id Description HPO Frequency HPO Source Accession
1 growth hormone deficiency64 HP:0000824
2 respiratory difficulties64 HP:0002880
3 severe short stature64 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 Immunodeficiency27 24 STAT5B

Anatomical Context for Growth Hormone Insensitivity with Immunodeficiency

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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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet