eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| carney complex | ||||
| Disease ID | 225 |
|---|---|
| Disease | carney complex |
| 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). |
| Synonym | atrial myxoma with lentigines atrial myxoma with lentigines (disorder) carney complex [disease/finding] carney myxoma endocrine complex carney myxoma-endocrine complex carney syndrome carney's syndrome cnc complex, carney complex, carney myxoma-endocrine lamb lamb - lentigines, atrial myxoma, mucocutaneous myoma, blue naevus syndrome lamb - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome lamb syndrome lamb syndromes lentigines, atrial myxoma, mucocutaneous myoma, blue naevus syndrome lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome myxoma, spotty pigmentation, and endocrine overactivity myxoma-endocrine complex, carney naevi, atrial myxoma, skin myxoma, ephelides syndrome name - naevi, atrial myxoma, skin myxoma, ephelides syndrome name - nevi, atrial myxoma, skin myxoma, ephelides syndrome name syndrome name syndromes nevi, atrial myxoma, skin myxoma, ephelides syndrome syndrome, carney syndrome, lamb syndromes, lamb |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0406810 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0020538 | hypertension | 3 C0032285 | pneumonia | 3 C0027809 | schwannoma | 2 C0010481 | cushing syndrome | 2 C0020542 | pulmonary hypertension | 2 C0206736 | blue nevus | 2 C0206667 | adrenal adenoma | 1 C0001621 | adrenal disease | 1 C0032326 | pneumothorax | 1 C0001430 | adenoma | 1 C0206667 | adrenocortical adenoma | 1 C0334684 | renal adenoma | 1 C0206686 | adrenal cortical carcinoma | 1 C0001206 | acromegaly | 1 C0019284 | diaphragmatic hernia | 1 C0013418 | dystocia | 1 C0004045 | birth asphyxia | 1 C0346402 | adrenocortical cancer | 1 C0042769 | virus infection | 1 C0020541 | portal hypertension | 1 C0022658 | renal disease | 1 C0030524 | paratuberculosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:45) 64746 | ACBD3 | 2.904 | DISEASES 84890 | ADO | 1.046 | DISEASES 8623 | ASMTL | 3.072 | DISEASES 766 | CA7 | 1.174 | DISEASES 796 | CALCA | 1.396 | DISEASES 79577 | CDC73 | 1.672 | DISEASES 387836 | CLEC2A | 1.187 | DISEASES 1499 | CTNNB1 | 1.321 | DISEASES 23405 | DICER1 | 1.351 | DISEASES 2202 | EFEMP1 | 1.205 | DISEASES 2159 | F10 | 5.064 | DISEASES 2261 | FGFR3 | 1.523 | DISEASES 2304 | FOXE1 | 1.822 | DISEASES 2492 | FSHR | 1.1 | DISEASES 2778 | GNAS | 4.519 | DISEASES 23560 | GTPBP4 | 1.093 | DISEASES 3481 | IGF2 | 1.638 | DISEASES 3762 | KCNJ5 | 1.09 | DISEASES 3981 | LIG4 | 1.382 | DISEASES 116372 | LYPD1 | 3.184 | DISEASES 4158 | MC2R | 1.29 | DISEASES 9968 | MED12 | 1.062 | DISEASES 4221 | MEN1 | 5.54 | DISEASES 2315 | MLANA | 2.786 | DISEASES 4496 | MT1H | 2.096 | DISEASES 4626 | MYH8 | 4.337 | DISEASES 4763 | NF1 | 2.146 | DISEASES 4771 | NF2 | 1.873 | DISEASES 7080 | NKX2-1 | 1.042 | DISEASES 87178 | PNPT1 | 2.343 | DISEASES 5567 | PRKACB | 4.146 | DISEASES 5573 | PRKAR1A | 8.241 | DISEASES 5575 | PRKAR1B | 3.786 | DISEASES 5578 | PRKCA | 1.059 | DISEASES 5728 | PTEN | 2.775 | DISEASES 10411 | RAPGEF3 | 1.113 | DISEASES 5979 | RET | 1.363 | DISEASES 6392 | SDHD | 1.994 | DISEASES 26768 | SNORA73B | 2.433 | DISEASES 6711 | SPTBN1 | 1.964 | DISEASES 57522 | SRGAP1 | 3.357 | DISEASES 6794 | STK11 | 2.626 | DISEASES 3925 | STMN1 | 1.527 | DISEASES 7169 | TPM2 | 1.616 | DISEASES 89910 | UBE3B | 2.436 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PRKAR1A | 17q24.2 |
| Disease ID | 225 |
|---|---|
| Disease | carney complex |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:46) HP:0001003 | Multiple lentigines HP:0009588 | Vestibular Schwannoma HP:0100008 | Schwannoma HP:0002331 | Recurrent paroxysmal headache HP:0000845 | Growth hormone excess HP:0010784 | Uterine neoplasm HP:0001676 | Palpitations (with pheochromocytoma) HP:0100619 | Sertoli cell neoplasm HP:0010619 | Fibroma of the breast HP:0001635 | Congestive heart failure HP:0012030 | Increased urinary cortisol level HP:0040086 | Abnormal prolactin level HP:0012315 | Histiocytoma HP:0009593 | Peripheral Schwannoma HP:0006748 | Adrenal pheochromocytoma HP:0030431 | Osteochondroma HP:0000147 | Polycystic ovaries HP:0003003 | Colon cancer HP:0006767 | Pituitary prolactin cell adenoma HP:0011043 | Abnormality of circulating adrenocorticotropin level HP:0008225 | Thyroid follicular hyperplasia HP:0100814 | Blue nevus HP:0011760 | Pituitary growth hormone cell adenoma HP:0002893 | Pituitary adenoma HP:0000138 | Ovarian cyst HP:0005587 | Profuse pigmented skin lesions HP:0012126 | Stomach cancer HP:0007832 | Pigmentation of the sclera HP:0003764 | Nevus HP:0001578 | Hypercortisolism HP:0003118 | Increased circulating cortisol level HP:0008675 | Enlarged polycystic ovaries HP:0002890 | Thyroid carcinoma HP:0000957 | Cafe-au-lait spot HP:0001580 | Pigmented micronodular adrenocortical disease HP:0002640 | Hypertension associated with pheochromocytoma HP:0006744 | Adrenocortical carcinoma HP:0012028 | Hepatocellular adenoma HP:0002297 | Red hair HP:0002894 | Neoplasm of the pancreas HP:0001007 | Hirsutism HP:0011672 | Cardiac myxoma HP:0001034 | Hypermelanotic macule HP:0100730 | Bronchogenic cyst HP:0000854 | Thyroid adenoma HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0011672 | Cardiac myxoma | 4 HP:0000822 | Hypertension | 3 HP:0002664 | Neoplasia | 3 HP:0002090 | Pneumonia | 3 HP:0100814 | Mongolian spot | 2 HP:0001578 | Hypercortisolism | 2 HP:0003764 | Naevus | 2 HP:0012382 | Left-to-right shunt | 2 HP:0002092 | Pulmonary artery hypertension | 2 HP:0100008 | Schwann cell tumour | 2 HP:0000635 | Blue irides | 1 HP:0000845 | Acromegalic growth | 1 HP:0010866 | Congenital anterior abdominal wall defect | 1 HP:0001409 | Portal hypertension | 1 HP:0002107 | Collapsed lung | 1 HP:0000776 | Diaphragmatic hernia | 1 HP:0001636 | Tetrology of fallot | 1 HP:0008256 | Adrenocortical adenomas | 1 HP:0011675 | Arrhythmias | 1 |
| Disease ID | 225 |
|---|---|
| Disease | carney complex |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:14) C1960546 | cardiac myxoma C1306247 | melanotic schwannoma C0917996 | cerebral aneurysms C0376293 | stigmata C0278864 | somatotrophinoma C0206736 | blue nevus C0206736 | blue nevi C0037285 | skin manifestations C0036161 | o variant C0032019 | pituitary tumors C0032000 | pituitary adenoma C0027149 | myxomas C0027149 | myxoma C0010481 | cushing's syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0027149 | myxoma | 8 C0027149 | myxomas | 4 C1306247 | melanotic schwannoma | 3 C0262929 | cardiac myxoma | 3 C0206736 | blue nevus | 2 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853303 | NA | 5573 | PRKAR1A | umls:C0406810 | CLINVAR | NA | 0.38470121 | NA | PRKAR1A | 17 | 68522798 | C | T |
| rs281864783 | 17396442 | 5573 | PRKAR1A | umls:C0406810 | BeFree | Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). | 0.38470121 | 2007 | PRKAR1A | 17 | 68522864 | C | T |
| rs281864790 | 25890363 | 5573 | PRKAR1A | umls:C0406810 | BeFree | Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG. | 0.38470121 | 2015 | PRKAR1A | 17 | 68524066 | TG | - |
| rs281864801 | NA | 5573 | PRKAR1A | umls:C0406810 | CLINVAR | NA | 0.38470121 | NA | PRKAR1A | 17 | 68527833 | TTTTTA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002897 | Parathyroid adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0002297 | Red hair | MP:0009933 | abnormal tail hair pigmentation | an anomaly in the expected coloration of hair on the dorsal and/or ventral surface of the tail |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0002893 | Pituitary adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0000854 | Thyroid adenoma | MP:0003496 | increased thyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period |
| HP:0006744 | Adrenocortical carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0002890 | Thyroid carcinoma | MP:0003331 | increased hepatocellular carcinoma incidence | greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period |
| HP:0012030 | Increased urinary cortisol level | MP:0009355 | increased liver triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0003118 | Increased circulating cortisol level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot | the appearance of a round area of white fur on the head |
| HP:0010619 | Fibroadenoma of the breast | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0011760 | Pituitary growth hormone cell adenoma | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0002640 | Hypertension associated with pheochromocytoma | MP:0002050 | increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
| HP:0002894 | Neoplasm of the pancreas | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0006748 | Adrenal pheochromocytoma | MP:0002050 | increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
Mapped by homologous gene(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001578 | Hypercortisolism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100008 | Schwannoma | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0009588 | Vestibular Schwannoma | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0006744 | Adrenocortical carcinoma | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0012028 | Hepatocellular adenoma | MP:0011765 | oroticaciduria | increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine |
| HP:0009593 | Peripheral Schwannoma | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0007832 | Pigmentation of the sclera | MP:0003619 | abnormal urine color | any alteration from the usual straw-coloration of the urine |
| HP:0001007 | Hirsutism | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0012126 | Stomach cancer | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0003118 | Increased circulating cortisol level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000854 | Thyroid adenoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002331 | Headache (with pheochromocytoma) | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0010784 | Uterine neoplasm | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0030431 | Osteochondroma | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002297 | Red hair | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0000138 | Ovarian cyst | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0012030 | Increased urinary cortisol level | MP:0011090 | perinatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0002897 | Parathyroid adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0010619 | Fibroadenoma of the breast | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001580 | Pigmented micronodular adrenocortical disease | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0002894 | Neoplasm of the pancreas | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0100730 | Bronchogenic cyst | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003764 | Nevus | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000957 | Cafe-au-lait spot | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001003 | Multiple lentigines | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003003 | Colon cancer | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011760 | Pituitary growth hormone cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0001676 | Palpitations (with pheochromocytoma) | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0002640 | Hypertension associated with pheochromocytoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0005587 | Profuse pigmented skin lesions | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0006748 | Adrenal pheochromocytoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0008225 | Thyroid follicular hyperplasia | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0012315 | Histiocytoma | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0002890 | Thyroid carcinoma | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| Disease ID | 225 |
|---|---|
| Disease | carney complex |
| Case | (Waiting for update.) |