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Carney complex

2 OMIM references -
1 associated gene
39 connected diseases
55 signs/symptoms

Disease	Type of connection
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Retinitis pigmentosa
Williams syndrome
Periventricular nodular heterotopia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Usher syndrome type 1
Giant cell glioblastoma
Gliosarcoma
Autosomal dominant nonsyndromic intellectual deficit
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Anophthalmia / microphthalmia - esophageal atresia
Classical homocystinuria
Colobomatous microphthalmia
Hereditary sensory and autonomic neuropathy type 2
Isolated anophthalmia - microphthalmia
Leber congenital amaurosis
Pigmented paravenous retinochoroidal atrophy
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Chorioretinopathy, Birdshot type
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Blackfan-Diamond anemia
Early infantile epileptic encephalopathy
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Intellectual deficit, X-linked, Turner type
Multiple endocrine neoplasia type 1
Posterior polar cataract
Zollinger-Ellison syndrome

Synonym(s): - Carney syndrome - Myxoma - spotty pigmentation - endocrine overactivity

Classification (Orphanet): - Rare cardiac disease - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (ICD10): - Neoplasms -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 2 OMIM references - 1 MeSH reference: D056733

Gene symbol	UniProt reference	OMIM reference
PRKAR1A	P10644	188830

Very frequent

- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal pigmentation of the oral mucosa / gingivae
- Acromegaly
- Adrenal neoplasm / tumor / carcinoma / cancer
- Autosomal dominant inheritance
- Cortico-adrenal hyperplasia / hypersecretion
- Cushingoid morphotype
- Endocrine tumor
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Heart / cardiac tumor
- Pigmented naevi / naevus pigmentosus / lentigo
- Skin tumors / lumps / epidermal cysts
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thyroid neoplasm / tumor / carcinoma / cancer

Frequent

- Abnormal fat distribution / lipodystrophy
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Breast neoplasm / tumor / carcinoma / cancer
- Broad foot
- Chronic arterial hypertension
- Coarse face
- Fever / chilling
- Generalized obesity
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Hydrarthrosis / articular / joint effusion
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin-independent / type 2 diabetes
- Kyphosis
- Large hand
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteoarthritis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / behavioural troubles
- Round face
- Thin skin
- Transient cerebral ischemia / stroke
- Truncal obesity

Occasional

- Anaemia
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mitral valve atresia / stenosis / narrowing
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Motor deficit / trouble
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Precocious puberty
- Striae
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Weight loss / loss of appetite / break in weight curve / general health alteration