Carney Complex

Preferred Label : Carney Complex;

NCIt synonyms : Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome; Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome; Carney's Syndrome; Atrial Myxoma with Lentigines; LAMB; CNC; Carney Syndrome;

NCIt definition : An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas.;

Alternative definition : NICHD: An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production.; NCI-GLOSS: A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes.;

Codes from synonyms : CDR0000597110; CDR0000648572;

Details

Origin ID

C4705;

UMLS CUI

C0406810;

Automatic exact mappings (from CISMeF team)
- Lamb - meat (substance) [SNOMED CT concept]
- Name [EDAM data]
- cranial neural crest [UBERON concept]
- lipoarabinomannan [MeSH Supplementary Concept]
- liposomal amphotericin B [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Atrial myxoma with lentigines (disorder) [Inactive SNOMED CT concept]
- Carney complex [PASCAL descriptor]
- Carney complex [MedDRA Preferred Term]
- Carney complex [DO Concept]
- Carney complex [Disease (Nov.)]
- Carney complex [ICD-11 More detail]
- Carney complex [ORDO Disease]
- Carney complex (disorder) [SNOMED CT concept]
- Carney complex, type 1 [OMIM Phenotype]
- Carney syndrome [PASCAL descriptor]
- carney complex [MeSH Descriptor]
- carney complex [MeSH concept]
- carney complex, type 1 [MeSH concept]
DO Cross reference
- Carney complex [DO Concept]
False automatic mappings
- Lamb [LOINC component]
- Name [LOINC component]
- Naming (observable entity) [SNOMED CT concept]
- name [NCCMERP Descriptor]
- name [PSIP Taxonomy Term]
- name [PSIP Taxonomy Term]
- name [PSIP Taxonomy Term]
- names [MeSH Descriptor]
- names [MeSH concept]
- naming, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrial myxoma with lentigines (disorder) [Inactive SNOMED CT concept]
- Carney complex [MedDRA Preferred Term]
- Carney complex (disorder) [SNOMED CT concept]
- LAMB syndrome [MedDRA LLT]
- NAME syndrome [MedDRA LLT]
- carney complex [MeSH concept]
- carney complex [MeSH Descriptor]
Validated automatic mappings to BTNT
- Carney complex type 1 [Disease (Nov.)]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]
disease_mapped_to_gene
- PRKAR1A Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Cortical Hyperplasia [NCIt concept]
- Atrial Myxoma [NCIt concept]
- Melanotic Schwannoma [NCIt concept]
- Osteochondromyxoma [NCIt concept]
- Pigmented Epithelioid Melanocytoma [NCIt concept]
- Pituitary Neuroendocrine Tumor [NCIt concept]
- Testicular Sertoli Cell Tumor [NCIt concept]
- Thyroid Gland Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- PRKAR1A Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Mediastinal Melanotic Schwannoma [NCIt concept]
- Melanotic Schwannoma [NCIt concept]
- Osteochondromyxoma [NCIt concept]
- PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma [NCIt concept]
- Pigmented Epithelioid Melanocytoma [NCIt concept]
- Testicular Large Cell Calcifying Sertoli Cell Tumor [NCIt concept]
pathogenesis_of_disease_involves_gene
- PRKAR1A Gene [NCIt concept]
- PRKAR1A wt Allele [NCIt concept]
related_to_genetic_biomarker
- PRKAR1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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