loading...| Preferred Name |
Donohue Syndrome |
|
| Synonyms |
Donohue Syndrome Leprechaunism |
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| Definitions |
A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 |
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| ALT_DEFINITION |
An autosomal recessive condition caused by mutation(s) in the INSR gene encoding the insulin receptor, and characterized by the following: insulin resistance; prenatal growth restriction and small for gestational age birth; small, elfin-like facies with protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia; muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in life, with death usually occurring before age two years. The symptoms and course of this syndrome are the most severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism and Rapson-Mendenhall Syndrome. |
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| code |
C84676 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
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| Contributing_Source |
Cellosaurus NICHD |
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| DEFINITION |
A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia. |
|
| FULL_SYN |
Donohue Syndrome Leprechaunism |
|
| label |
Donohue Syndrome |
|
| Preferred_Name |
Donohue Syndrome |
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| prefixIRI |
Thesaurus:C84676 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265344 |
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| subClassOf |