Details of Disease

General Information of Disease (ID: DISRZSTR)

Disease Name Isolated growth hormone deficiency type III
Synonyms
IGHD 3; isolated growth hormone deficiency, type 3; isolated growth hormone deficiency, type III; IGHD3; Growth hormone deficiency with hypogammaglobulinemia; hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked; isolated growth hormone deficiency type 3; agammaglobulinemia and isolated Growth hormone deficiency, X-linked; Fleisher syndrome; congenital isolated GH deficiency type III; congenital IGHD type III; X-linked agammaglobulinemia and isolated growth hormone deficiency; isolated growth hormone deficiency type III; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; congenital isolated growth hormone deficiency type III; IGHD III; growth hormone deficiency with hypogammaglobulinemia; X-linked isolated growth hormone deficiency; isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive; X-linked IGHD
Disease Hierarchy
DISTL7RP: Isolated congenital growth hormone deficiency
DISRZSTR: Isolated growth hormone deficiency type III
Disease Identifiers
MONDO ID
MONDO_0010615
MESH ID
C537149
UMLS CUI
C0472813
OMIM ID
307200
MedGen ID
141630
Orphanet ID
231692
SNOMED CT ID
234533006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BTK TTGM6VW moderate CausalMutation [1]
BTK TTGM6VW Strong X-linked [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BTK OTG3CDVK Strong X-linked [2]
ELF4 OT167PR5 Strong GermlineCausalMutation [3]
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References

1 Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.
2 Genetic analysis of patients with defects in early B-cell development. Immunol Rev. 2005 Feb;203:216-34. doi: 10.1111/j.0105-2896.2005.00233.x.
3 X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res. 2008;40(3):262-70. doi: 10.1007/s12026-007-0028-9.