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 1;   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 variant;   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;   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
RGD:8554872
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

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Path 1
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  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          Carney complex 3
            Carney Complex Variant 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Carney complex 3
                  Carney Complex Variant 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.