Details of Disease

Disease Name

Laron syndrome

Laron type pituitary dwarfism I; pituitary dwarfism 2; pituitary dwarfism II; Laron dwarfism; growth hormone insensitivity syndrome; primary growth hormone resistance; Laron syndrome; short stature due to growth hormone resistance; primary GH insensitivity; Laron-type isolated somatotropin defect; complete growth hormone insensitivity; primary growth hormone insensitivity; Growth Hormone Insensitivity; Laron-type dwarfism; primary GH resistance; Growth hormone receptor deficiency; GH receptor deficiency

Definition

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

Disease Hierarchy

DISCPWH9: Autosomal recessive disease

DISHEQ1Z: Growth hormone insensitivity syndrome

DISW9H7W: Laron syndrome

Disease Identifiers

MONDO ID

MONDO_0009877

MESH ID

D046150

UMLS CUI

C0271568

OMIM ID

262500

MedGen ID

78776

Orphanet ID

633

SNOMED CT ID

38196001

General Information of Disease (ID: DISW9H7W)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Mecasermin	DM1O3BY	Approved	NA	[1]
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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
IGFBP3	TTZHNQA	Strong	Altered Expression	[2]
GHR	TTKMAZ6	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PROP1	OT8GF6N8	Strong	Genetic Variation	[4]
DESI1	OTFNIW98	Definitive	Genetic Variation	[5]
GHR	OT8WUWMU	Definitive	Autosomal recessive	[3]
SLC35G1	OTKZUA8O	Definitive	Genetic Variation	[5]
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References

1	Cardiac examination in children with Laron syndrome undergoing mecasermin therapy. J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):675-679.
2	Fanconi Anemia and Laron Syndrome.Am J Med Sci. 2017 May;353(5):425-432. doi: 10.1016/j.amjms.2017.02.001. Epub 2017 Feb 4.
3	Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab. 1998 Feb;83(2):531-7. doi: 10.1210/jcem.83.2.4601.
4	Do deficiencies in growth hormone and insulin-like growth factor-1 (IGF-1) shorten or prolong longevity?.Mech Ageing Dev. 2005 Feb;126(2):305-7. doi: 10.1016/j.mad.2004.08.022.
5	Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.J Endocrinol Invest. 2007 May;30(5):417-20. doi: 10.1007/BF03346320.