Information on GHISID2
Basic details
Name: Growth hormone insensitivity syndrome with immune dysregulation 2 | Acronym: GHISID2
Alt. names: STAT5B-DN
Gene: STAT5B | MOI: Autosomal dominant | Mechanism of action: Negative Dominance
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by short stature due to insensitivity to growth hormone. Affected individuals 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 (summary by Klammt et al., 2018).[OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Increased IgE levels |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 2 | short stature |
6 (66.7%) | 0 (0.0%) | 3 (33.3%) |
| 3 | Decreased insulin-like growth factor 1 |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
| 4 | Microcephaly |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 5 | Eczema |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Celiac disease |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 7 | Recurrent infections |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Thyroiditis |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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