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acrodysostosis 1 with or without hormone resistance
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Mondo Description An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
Uniprot Description A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities.
Mondo Term and Equivalent IDs
MONDO:0007044: acrodysostosis 1 with or without hormone resistance
Download Data for acrodysostosis 1 with or without hormone resistance
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C136464
OMIM:101800
UMLS:C3276228
MONDO:0007044
High level summary of knowledge for a disease, including descriptions and datasource references.