ORPHA:1359
Carney complex
Synonyms: Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carney complex | Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome |
| fr | Complexe de Carney | Syndrome de Carney · Syndrome de myxome-hyperpigmentation-hyperactivité endocrinienne |
| de | Carney-Komplex | Carney-Syndrom · Myxom-fleckförmige Hautpigmentierung-endokrine Überaktivität-Syndrom |
| es | Complejo de Carney | Síndrome de Carney · Síndrome de mixoma-pigmentación irregular-hiperactividad endocrina |
| it | Complesso di Carney | Mixoma - macchie pigmentarie - iperattività endocrina · Sindrome di Carney · Sindrome mixoma-pigmentazione a chiazze-iperattività endocrina |
| nl | Carney-complex | Myxoom - gevlekte pigmentatie - endocriene overactiviteit-syndroom · Syndroom van Carney |
| pt | Complexo Carney | Síndrome Carney · Síndrome de mixoma-pigmentação ponteada-hiperfuncionalidade endócrina |
| pl | Kompleks Carney'a | Śluzak - plamista pigmentacja skóry - nadmierna aktywność enokrynologiczna · Zespół Carney'a |
| cs | Carneyův komplex | Syndrom zahrnující myxom, skvrnitou pigmentaci a endokrinní hyperaktivitu · Carneyův syndrom |
| uk | Комплекс Карнея | Синдром Карнея · Синдром міксоми-плямистої пігментації-ендокринної гіперактивності |
| zh | Carney综合征 | 黏液瘤-斑点样色素沉着-内分泌过度活动综合征 |
| tr | Carney kompleksi | Carney sendromu · Miksoma-benekli pigmentasyon-endokrin aşırı aktivite sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160980 | BTNT | validated | |
| OMIM | 605244 | BTNT | validated | |
| OMIM | 610489 | NTBT | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | index | validated |
| MONDO | 0015285 | E | validated | |
| MeSH | D056733 | E | validated | |
| UMLS | C0406810 | E | validated | |
| GARD | 1119 | E | validated | |
| MedDRA | 10076601 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases - ORPHA:271841Genetic cardiac tumor
rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:100094Multiple polyglandular tumor
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:168194Rare cardiac tumor
rare cardiac diseases; rare neoplastic diseases - ORPHA:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:623NAME syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKAR1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 20301463[PMID] |
| PDE11A | Modifying germline mutation in | Assessed | HGNC:8773 | ENSG00000128655 | 604961 | 2q31.2 | phosphodiesterase 11A | 21047926[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 750 cases | Worldwide | Case(s) | Validated | 34167977[PMID]_35165607[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
64 annotations · validated 2021-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001580 | Pigmented micronodular adrenocortical disease | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001074 | Atypical nevi in non-sun exposed areas | |
| HP:0100814 | Blue nevus | Diagnostic criterion |
| HP:0011672 | Cardiac myxoma | Diagnostic criterion |
| HP:0030428 | Cutaneous myxoma | |
| HP:0000845 | Elevated circulating growth hormone concentration | Diagnostic criterion |
| HP:0000866 | Euthyroid multinodular goiter | |
| HP:0010785 | Gonadal neoplasm | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0001003 | Multiple lentigines | Diagnostic criterion |
| HP:0000138 | Ovarian cyst | |
| HP:0011760 | Pituitary growth hormone cell adenoma | |
| HP:0100619 | Sertoli cell neoplasm | Diagnostic criterion |
| HP:0005585 | Spotty hyperpigmentation | |
| HP:0010788 | Testicular neoplasm | |
| Occasional (29-5%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0100737 | Abnormal hard palate morphology | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0012206 | Abnormal sperm motility | |
| HP:0000708 | Atypical behavior | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001635 | Congestive heart failure | |
| HP:0012041 | Decreased fertility in males | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0030075 | Ductal carcinoma in situ | |
| HP:0030038 | Enchondroma | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0010619 | Fibroadenoma of the breast | Diagnostic criterion |
| HP:0001507 | Growth abnormality | |
| HP:0000771 | Gynecomastia | |
| HP:0001007 | Hirsutism | |
| HP:0000822 | Hypertension | |
| HP:0004324 | Increased body weight | |
| HP:0100618 | Leydig cell neoplasia | |
| HP:0000053 | Macroorchidism | |
| HP:0500011 | Moon facies | |
| HP:0001324 | Muscle weakness | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100638 | Neoplasm of the pharynx | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0010732 | Nodular changes affecting the eyelids | |
| HP:0000798 | Oligozoospermia | |
| HP:0025318 | Ovarian carcinoma | |
| HP:0025274 | Ovarian dermoid cyst | |
| HP:0012887 | Ovarian serous cystadenoma | |
| HP:0030072 | Paranasal sinus neoplasm | |
| HP:0100008 | Schwannoma | |
| HP:0001065 | Striae distensae | |
| HP:0001297 | Stroke | |
| HP:0025451 | Testicular adrenal rest tumor | |
| HP:0001907 | Thromboembolism | |
| HP:0000199 | Tongue nodules | |
| Very rare (<4-1%) | ||
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0006731 | Follicular thyroid carcinoma | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0002895 | Papillary thyroid carcinoma | |
| HP:0000826 | Precocious puberty | |
| HP:0000098 | Tall stature | |
| HP:0002890 | Thyroid carcinoma | Diagnostic criterion |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301463[PMID]_29939654[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1359
- This record as JSON: /data/d/1359.json