Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:22464252 PMID:23043190 PMID:23425300 PMID:24170103 PMID:25741868 PMID:28492532 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Myh8 myosin heavy chain 8 ISS OMIM:160980 | OMIM:605244 | OMIM:608837 MouseDO NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Carney complex, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:160980
OMIM
ClinVar
CTD
PMID:10973256 PMID:10974026 PMID:11115848 PMID:12424709 PMID:15371594 PMID:15992699 PMID:16569736 PMID:17396442 PMID:18056771 PMID:18241045 PMID:19293268 PMID:20358582 PMID:21850686 PMID:22112814 PMID:22259056 PMID:22341669 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:24033266 PMID:24170103 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26822237 PMID:27825928 PMID:27930734 PMID:28051113 PMID:28492532 PMID:28640241 PMID:29264456 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 PMID:15590965 PMID:17041932 PMID:18049072 PMID:20949528 PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Carney complex 3
        Carney Complex Variant 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                Carney complex 3
                  Carney Complex Variant 1
paths to the root