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ONTOLOGY REPORT - ANNOTATIONS


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 2;   Carney Complex, Type I;   Carney Complex, Type II;   Carney Myxoma Endocrine Complex;   Carney Myxoma Endocrine Complex, Type II;   Carney Syndrome;   Carney complex, type 1;   LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome;   LAMB syndrome;   Myxoma, Spotty Pigmentation, and Endocrine Overactivity;   NAME syndrome;   nevi, atrial myxoma, skin myxoma, ephelides syndrome
 primary_id: MESH:D056733
 alt_id: OMIM:160980;   OMIM:605244;   RDO:0007755
 xref: GARD:1119;   NCI:C4705;   ORDO:1359
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Carney complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:13592920
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:7240710
RGD:8554872
RGD:11554173
Carney Complex Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        Skin Abnormalities 500
          Carney complex 3
            Carney Complex Variant 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Carney complex 3
                  Carney Complex Variant 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.