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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
TRAPS syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Cowden syndrome
TRAPS syndrome

AKT1
(UniProt - OMIM)
 TNFRSF1A
(UniProt - OMIM)
KLLN
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)
PTEN
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.63)
TNFRSF1A


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
TRAPS syndrome
TNFRSF1A



Cowden syndrome
TRAPS syndrome

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
- Autosomal dominant periodic fever
- Familial hibernian fever
- TNF receptor 1 associated periodic syndrome
- Tumor necrosis factor receptor 1 associated periodic syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Follicular / erythematous / edematous papules / milium
- Macules

Cowden syndrome
TRAPS syndrome

Very frequent
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Neoplasms / tumors
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Cataract / lens opacification
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer


Very frequent
- Acute abdominal pain / colic
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cutaneous rash
- Erysipela
- Fever / chilling
- Malabsorption / chronic diarrhea / steatorrhea
- Myalgia / muscular pain
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion

Frequent
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Arthritis / synovitis / synovial proliferation
- Constipation
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperleukocytosis / leukocytosis
- Intestinal obstruction / ileus
- Lymphadenopathy / polyadenopathies
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Splenomegaly
- Testes inflammation / orchitis

Occasional
- Articular / joint pain / arthralgia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cranial nerves palsy
- Dizziness
- Ecchymoses
- Facial pain / cephalalgia / migraine
- Fasciitis
- Myocardium anomalies / myocarditis
- Myositis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peritonitis / peritoneal abscess
- Pharyngitis
- Psychic / behavioural troubles
- Sacroiliac joints anomalies
- Thoracic / chest pain
- Vascularitis / vasculitides / arteritis