Details of Disease | DrugMAP

General Information of Disease (ID: DISTUI37)

Disease Name	Rabson-Mendenhall syndrome
Synonyms	Mendenhall syndrome; pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities; Rabson-Mendenhall syndrome
Definition	Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISZUK5W: Hypertrichosis DISTUI37: Rabson-Mendenhall syndrome
Disease Identifiers	MONDO ID MONDO_0009874 MESH ID D056731 UMLS CUI C0271695 OMIM ID 262190 MedGen ID 78783 Orphanet ID 769 SNOMED CT ID 33559001

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
INSR	TTCBFJO	Strong	Autosomal recessive	[1]
INSR	TTCBFJO	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INSR	OTTY341H	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	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.
2	One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):183-187. doi: 10.4274/jcrpe.5080. Epub 2017 Oct 30.