loading...| Preferred Name |
Alstrom Syndrome |
|
| Synonyms |
Alström Syndrome Alstrom Syndrome |
|
| Definitions |
A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84549 |
|
| ALT_DEFINITION |
An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals. |
|
| code |
C84549 |
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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 syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. |
|
| FULL_SYN |
Alström Syndrome Alstrom Syndrome |
|
| label |
Alstrom Syndrome |
|
| Preferred_Name |
Alstrom Syndrome |
|
| prefixIRI |
Thesaurus:C84549 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0268425 |
|
| subClassOf |