Details of Disease

General Information of Disease (ID: DISI822K)

Disease Name Donohue syndrome
Synonyms insulin receptor, defect 1N; Leprechaunism; Donohue syndrome; leprechaunism
Definition
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISI822K: Donohue syndrome
Disease Identifiers
MONDO ID
MONDO_0009517
MESH ID
D056731
UMLS CUI
C0265344
OMIM ID
246200
MedGen ID
82708
Orphanet ID
508
SNOMED CT ID
111307005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PYY TTVFJLX Limited Biomarker [1]
AURKA TTPS3C0 Strong Biomarker [2]
INSR TTCBFJO Strong Autosomal recessive [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATL1 OTR2788Y Limited Biomarker [4]
INSR OTTY341H Strong Autosomal recessive [3]
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References

1 Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.Pediatr Diabetes. 2018 Jun;19(4):675-679. doi: 10.1111/pedi.12619. Epub 2017 Dec 11.
2 Mutations in insulin-receptor gene in insulin-resistant patients.Diabetes Care. 1990 Mar;13(3):257-79. doi: 10.2337/diacare.13.3.257.
3 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.
4 Prenatal analysis of the insulin receptor gene in a family with leprechaunism.Prenat Diagn. 1995 Nov;15(11):1070-4. doi: 10.1002/pd.1970151113.