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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Carney complex
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Accession:DOID:0050471 term browser browse the term
Definition:Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).
Synonyms:exact_synonym: CAR;   CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2;   CNC1;   CNC2;   Carney Complex, Type II;   Carney Myxoma Endocrine Complex;   Carney Myxoma Endocrine Complex, Type II;   Carney Syndrome;   Carney complex, type 1;   Carney complex, type 2;   Carney complex, type I;   LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome;   LAMB syndrome;   NAME syndrome;   myxoma, spotty pigmentation, and endocrine overactivity;   nevi, atrial myxoma, skin myxoma, ephelides syndrome
 primary_id: MESH:D056733
 alt_id: OMIM:160980;   OMIM:605244
 xref: GARD:1119;   NCI:C4705;   ORDO:1359
For additional species annotation, visit the Alliance of Genome Resources.



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Carney complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 ClinVar PMID:11115848 PMID:19293268 PMID:24170103 PMID:28492532 NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
JBrowse link
G Myh8 myosin heavy chain 8 ISS OMIM:160980 | OMIM:605244 | OMIM:608837 MouseDO NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
Carney Complex Variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Carney complex variant OMIM
ClinVar
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Carney complex 3
        Carney Complex Variant 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                Carney complex 3
                  Carney Complex Variant 1
paths to the root