GHISID2
MCID: GRW042
MIFTS: 20

Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant (GHISID2)

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

Aliases & Classifications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

MalaCards integrated aliases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

Name: Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 57 73 29 6
Ghisid2 57 73
Growth Hormone Insensitivity with Immune Dysregulation 2, Autosomal Dominant 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance of some features


HPO:

31
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618985
OMIM Phenotypic Series 57 PS245590
MeSH 44 D046150
MedGen 41 CN283329

Summaries for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

UniProtKB/Swiss-Prot : 73 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant: An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease.

MalaCards based summary : Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant, is also known as ghisid2. An important gene associated with Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant is STAT5B (Signal Transducer And Activator Of Transcription 5B). Affiliated tissues include bone, and related phenotypes are microcephaly and short stature

OMIM® : 57 Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 (147440). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by Klammt et al., 2018). (618985) (Updated 05-Mar-2021)

Related Diseases for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Symptoms & Phenotypes for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Human phenotypes related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 short stature 31 very rare (1%) HP:0004322
3 celiac disease 31 very rare (1%) HP:0002608
4 thyroiditis 31 very rare (1%) HP:0100646
5 eczema 31 very rare (1%) HP:0000964
6 recurrent infections 31 very rare (1%) HP:0002719
7 decreased serum insulin-like growth factor 1 31 very rare (1%) HP:0030353
8 increased circulating ige level 31 very rare (1%) HP:0003212
9 delayed skeletal maturation 31 HP:0002750
10 delayed puberty 31 HP:0000823
11 postnatal growth retardation 31 HP:0008897

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endocrine Features:
delayed puberty
autoimmune thyroiditis
growth hormone insensitivity

Respiratory:
recurrent infections (in some patients)

Skin Nails Hair Skin:
eczema (in some patients)

Growth Height:
short stature (down to -5 sd)

Abdomen Gastrointestinal:
celiac disease (in some patients)

Skeletal:
delayed bone age

Immunology:
increased serum ige
autoimmune features (in some patients)
immune dysregulation (in some patients)

Respiratory Airways:
bronchial asthma (in some patients)

Head And Neck Head:
microcephaly, mild (1 family)

Laboratory Abnormalities:
decreased serum igf1

Clinical features from OMIM®:

618985 (Updated 05-Mar-2021)

Drugs & Therapeutics for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search Clinical Trials , NIH Clinical Center for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant

Genetic Tests for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Genetic tests related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 29 STAT5B

Anatomical Context for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

MalaCards organs/tissues related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

40
Bone

Publications for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Articles related to Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

# Title Authors PMID Year
1
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. 57 6
29844444 2018

Variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

ClinVar genetic disease variations for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT5B NM_012448.3(STAT5B):c.530A>C (p.Gln177Pro) SNV Pathogenic 522611 rs1555549674 17:40375420-40375420 17:42223402-42223402
2 STAT5B NM_012448.3(STAT5B):c.1433C>T (p.Ala478Val) SNV Pathogenic 517661 rs1555548678 17:40368072-40368072 17:42216054-42216054
3 STAT5B NM_012448.3(STAT5B):c.1421A>G (p.Gln474Arg) SNV Pathogenic 492931 rs1555548680 17:40368084-40368084 17:42216066-42216066
4 STAT5B NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) SNV Uncertain significance 992531 17:40353767-40353767 17:42201749-42201749

Expression for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Search GEO for disease gene expression data for Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant.

Pathways for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

GO Terms for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

Sources for Growth Hormone Insensitivity Syndrome with Immune Dysregulation...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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