MCID: GRW003
MIFTS: 19

Growth Hormone Insensitivity with Immunodeficiency malady

Genetic diseases, Rare diseases, Immune diseases, Endocrine diseases categories

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 46 9 42 20 22
Short Stature Due to a Defect in Growth Hormone Receptor or Post-Receptor Pathway 42
Growth Hormone Insensitivity Due to Postreceptor Defect 42
Laron Syndrome Due to Postreceptor Defect 42
 
Growth Hormone Insensitivity Syndrome 42
Laron Syndrome Type 2 61
Laron Syndrome 61
Ghis 42


Classifications:



External Ids:

OMIM46 245590

Summaries for Growth Hormone Insensitivity with Immunodeficiency

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MalaCards based summary: Growth Hormone Insensitivity with Immunodeficiency, also known as short stature due to a defect in growth hormone receptor or post-receptor pathway, is related to laron dwarfism and dwarfism, 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:46 245590

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

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Diseases related to Growth Hormone Insensitivity with Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1laron dwarfism10.5
2dwarfism10.4
3insulin-like growth factor i10.3
4syringomyelia10.2
5neurofibromatosis10.2
6chiari malformation10.2

Graphical network of diseases related to Growth Hormone Insensitivity with Immunodeficiency:



Diseases related to growth hormone insensitivity with immunodeficiency

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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Drug clinical trials:

Search ClinicalTrials for Growth Hormone Insensitivity with Immunodeficiency

Search 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 Immunodeficiency20 22 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:

63
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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet