Details of Disease

General Information of Disease (ID: DIS32FL3)

• Disease Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
• Definition: Editor note: classified as both isolated and syndromic in ORDO
• Disease Hierarchy:
  DISYSVQT: Congenital agammaglobulinemia
  DISRZSTR: Isolated growth hormone deficiency type III
  DIS32FL3: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BTK	TTGM6VW	Supportive	X-linked	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BTK	OTG3CDVK	Supportive	X-linked	[1]
ELF4	OT167PR5	Supportive	X-linked	[2]

References

• [1] An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 1994 Jun 13;346(2-3):165-70. doi: 10.1016/0014-5793(94)00457-9.
• [2] X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res. 2008;40(3):262-70. doi: 10.1007/s12026-007-0028-9.