GHII
MCID: GRW003
MIFTS: 19

Growth Hormone Insensitivity with Immunodeficiency (GHII) malady

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

Aliases & Classifications for Growth Hormone Insensitivity with Immunodeficiency

Aliases & Descriptions for Growth Hormone Insensitivity with Immunodeficiency:

Name: Growth Hormone Insensitivity with Immunodeficiency 54 50 24 66 29 13
Growth Hormone Insensitivity Due to Postreceptor Defect 50 66
Laron Syndrome Due to a Post-Receptor Defect 66
Laron Syndrome Due to Postreceptor Defect 50
Short Stature Due to Stat5b Deficiency 56
Laron Syndrome with Immunodeficiency 56
Laron Syndrome Type Ii 66
Laron Type Dwarfism Ii 66
Laron-Like Syndrome 56
Ghii 66

Characteristics:

Orphanet epidemiological data:

56
laron syndrome with immunodeficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 54 245590
Orphanet 56 ORPHA220465
ICD10 via Orphanet 34 D82.8 E34.3
MedGen 40 C1855548
MeSH 42 D046150

Summaries for Growth Hormone Insensitivity with Immunodeficiency

UniProtKB/Swiss-Prot : 66 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 respiratory distress, severe short stature 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: 245590

Related Diseases for Growth Hormone Insensitivity with Immunodeficiency

Symptoms & Phenotypes for Growth Hormone Insensitivity with Immunodeficiency

Clinical features from OMIM:

245590

Human phenotypes related to Growth Hormone Insensitivity with Immunodeficiency:

32
id Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 severe short stature 32 HP:0003510
3 growth hormone deficiency 32 HP:0000824

Drugs & Therapeutics for Growth Hormone Insensitivity with Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity with Immunodeficiency

Genetic Tests for Growth Hormone Insensitivity with Immunodeficiency

Genetic tests related to Growth Hormone Insensitivity with Immunodeficiency:

id Genetic test Affiliating Genes
1 Growth Hormone Insensitivity with Immunodeficiency 29 24 STAT5B

Anatomical Context for Growth Hormone Insensitivity with Immunodeficiency

Publications for Growth Hormone Insensitivity with Immunodeficiency

Variations for Growth Hormone Insensitivity with Immunodeficiency

UniProtKB/Swiss-Prot genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

66
id Symbol AA change Variation ID SNP ID
1 STAT5B p.Ala630Pro VAR_018728 rs121908501
2 STAT5B p.Phe646Ser VAR_067368

ClinVar genetic disease variations for Growth Hormone Insensitivity with Immunodeficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STAT5B STAT5B, 1-BP INS, 1102C insertion Pathogenic
2 STAT5B NM_012448.3(STAT5B): c.1888G> C (p.Ala630Pro) single nucleotide variant Pathogenic rs121908501 GRCh37 Chromosome 17, 40362207: 40362207
3 STAT5B STAT5B, 1-BP INS, 1191G insertion Pathogenic
4 STAT5B NM_012448.3(STAT5B): c.454C> T (p.Arg152Ter) single nucleotide variant Pathogenic rs121908502 GRCh37 Chromosome 17, 40375496: 40375496
5 STAT5B STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION deletion Pathogenic

Expression for Growth Hormone Insensitivity with Immunodeficiency

Search GEO for disease gene expression data for Growth Hormone Insensitivity with Immunodeficiency.

Pathways for Growth Hormone Insensitivity with Immunodeficiency

GO Terms for Growth Hormone Insensitivity with Immunodeficiency

Sources for Growth Hormone Insensitivity with Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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