Details of Disease

General Information of Disease (ID: DISS5310)

Disease Name Carney complex, type 1
Synonyms
myxoma, spotty pigmentation, and endocrine overactivity; lamb syndrome; Carney syndrome; Carney Myxoma-endocrine Complex; CNC1; name syndrome; Carney complex, type 1; Carney complex caused by mutation in PRKAR1A; PRKAR1A Carney complex
Definition Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.
Disease Hierarchy
DISVL3IP: Carney complex
DISS5310: Carney complex, type 1
Disease Identifiers
MONDO ID
MONDO_0008057
MESH ID
D056733
UMLS CUI
C2607929
OMIM ID
160980
MedGen ID
388559

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
PRKAR1A TTNAHEX Definitive Autosomal dominant [1]
PRKAR1A TTNAHEX Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKAR1A OT589JA2 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Carney complex: A familial lentiginosis predisposing to a variety of tumors.Rev Endocr Metab Disord. 2016 Sep;17(3):367-371. doi: 10.1007/s11154-016-9400-1.