Details of Disease

General Information of Disease (ID: DISU7Q3J)

Disease Name Isolated growth hormone deficiency type IB
Synonyms
isolated growth hormone deficiency type 1B; isolated growth hormone deficiency, type IB; isolated Growth hormone deficiency, type 1B; IGHD1B; IGHD 1B; growth hormone deficiency, isolated, type IB; congenital isolated GH deficiency type IB; congenital IGHD type IB; dwarfism of Sindh; congenital isolated growth hormone deficiency type IB; IGHD IB
Definition
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
Disease Hierarchy
DISTL7RP: Isolated congenital growth hormone deficiency
DISU7Q3J: Isolated growth hormone deficiency type IB
Disease Identifiers
MONDO ID
MONDO_0013006
MESH ID
C567564
UMLS CUI
C2748571
OMIM ID
612781
MedGen ID
411242
Orphanet ID
231671

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GHRHR TTG4R8V Disputed Genetic Variation [1]
GH1 TTT3YKH Supportive Autosomal recessive [2]
GH1 TTT3YKH Strong GermlineCausalMutation [3]
GHRHR TTG4R8V Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GH1 OT92RTRD Supportive Autosomal recessive [2]
GHRHR OTU6TOQ4 Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------

References

1 A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib.J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):284-288. doi: 10.4274/jcrpe.5188. Epub 2018 Feb 28.
2 Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev. 2009 Nov;85(11):705-12. doi: 10.1016/j.earlhumdev.2009.08.057. Epub 2009 Sep 16.
3 Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).Indian J Pediatr. 2012 Jan;79(1):99-106. doi: 10.1007/s12098-011-0614-7. Epub 2011 Dec 3.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.