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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 17
Bannayan-Riley-Ruvalcaba syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome

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

COMMON
GENES 		PTEN
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AKT1
(0.78)
PTEN


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
Bannayan-Riley-Ruvalcaba syndrome



Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
- BRRS
- Myhre-Riley-Smith syndrome
- Syndrome de Myhre-Rikey-Smith
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Cafe-au-lait spot
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Meningioma
- Neoplasms / tumors
- Pectus excavatum
- Polyposis of the bowel / colon / intestine
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Xanthomas / lipomas

Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome

Very frequent
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Palmoplantar hyperkeratosis / keratoderma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Telangiectasiae of mucosae
- Thyroid anomalies

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- 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
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Short hand / brachydactyly
- T-cell deficiency / cellular immunity deficiency
- Uterine / uterus / Fallopian tubes anomalies


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Irregular / in bands / reticular skin hyperpigmentation
- Visceral angiomatosis (excluding skin)

Frequent
- Mucosal / cutaneous hemorrhage

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Angor pectoris / myocardial infarction
- Anteverted nares / nostrils
- Aortic dilatation / dilation
- Broad nose / nasal bridge
- Broad / bifid thumb
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Cutis marmorata / marbled skin / livedo
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Early death / lethality
- Frontal bossing / prominent forehead
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hypoglycemia
- Hypotonia
- Intracranial / cerebral / meningeal hemorrhage
- Long philtrum
- Long / large ear
- Lymphedema
- Lymphoma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myopathy
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- Telangiectasiae of the skin
- Thyroiditis
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy