Carney complex, type 1

Preferred Label : Carney complex, type 1;

Symbol : CNC1;

CISMeF acronym : CAR; CNC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Name syndrome; CAR; Carney myxoma-endocrine complex; Myxoma, spotty pigmentation, and endocrine overactivity; Lamb syndrome; Carney syndrome;

Description : Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; 131100 and MEN2; 171400). Carney complex shows some similarities to McCune-Albright syndrome (MAS; 174800), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS; 175200). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha gene (PRKAR1A, 188830.0001);

Neoplasia : Myxoid subcutaneous tumors; Primary adrenocortical nodular hyperplasia; Testicular Sertoli cell tumor, calcified; Pituitary adenoma; Mammary ductal fibroadenoma; Schwannoma; Psammomatous melanotic schwannomas; Thyroid carcinoma; Pheochromocytoma;

Prefixed ID : #160980;

Details

Origin ID

160980;

UMLS CUI

C2607929;

Automatic exact mappings (from CISMeF team)
- Automobile, device (physical object) [SNOMED CT concept]
- CXADR wt Allele [NCIt concept]
- Carib Language [NCIt concept]
- Caries [NCIt concept]
- Caries (morphologic abnormality) [SNOMED CT concept]
- Carious teeth [HPO term]
- Chimeric Antigen Receptor [NCIt concept]
- Coxsackievirus and Adenovirus Receptor [NCIt concept]
- Dental caries [HPMULTI term]
- LAMB syndrome [MedDRA LLT]
- NAME syndrome [ICD-11 More detail]
- NAME syndrome [MedDRA LLT]
- NAME syndrome [ORDO Disease]
- NR1I3 wt Allele [NCIt concept]
- No car (finding) [SNOMED CT concept]
- PRKAR1A wt Allele [NCIt concept]
- SPG7 matrix AAA peptidase subunit, paraplegin [ORDO Gene]
- TRIM13 wt Allele [NCIt concept]
- actomyosin contractile ring [GO term]
- caries, nos [SNOMED Notion]
- dental caries [MeSH Descriptor]
- protein kinase cAMP-dependent type I regulatory subunit alpha [ORDO Gene]
- protein kinase cAMP-dependent type I regulatory subunit alpha [HGNC gene]
- tooth decay [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Atrial myxoma with lentigines (disorder) [Inactive SNOMED CT concept]
- Carney Complex [NCIt concept]
- Carney complex [Disease (Nov.)]
- Carney complex [PASCAL descriptor]
- Carney complex [DO Concept]
- Carney complex [MedDRA Preferred Term]
- Carney complex [ICD-11 More detail]
- Carney complex [ORDO Disease]
- Carney complex type 1 [Disease (Nov.)]
- 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]
Genes related to phenotype
- Protein kinase, camp-dependent, regulatory, type I, alpha [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Acral overgrowth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac myxoma [HPO term]
- Congestive heart failure [HPO term]
- Elevated circulating growth hormone concentration [HPO term]
- Freckling [HPO term]
- Hirsutism [HPO term]
- Multiple lentigines [HPO term]
- Myxoid subcutaneous tumors [HPO term]
- Nevus [HPO term]
- Pheochromocytoma [HPO term]
- Pituitary adenoma [HPO term]
- Profuse pigmented skin lesions [HPO term]
- Red hair [HPO term]
- Schwannoma [HPO term]
- Thyroid carcinoma [HPO term]
- Thyroid follicular hyperplasia [HPO term]
ORDO concept(s)
- Carney complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carney complex type 1 [Disease (Nov.)]
- carney complex, type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Carney complex (disorder) [SNOMED CT concept]

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