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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Sturge-Weber syndrome
1 OMIM reference -
1 associated gene
33 signs/symptoms
Cowden syndrome
Sturge-Weber syndrome

AKT1
(UniProt - OMIM)
 GNAQ
(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
(0.73)
GNAQ


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
Sturge-Weber syndrome
GNAQ



Cowden syndrome
Sturge-Weber syndrome

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
- Encephalofacial angiomatosis
- Encephalotrigeminal angiomatosis
- SWS
- Sturge-Weber-Dimitri syndrome
- Sturge-Weber-Krabbe angiomatosis
- Sturge-Weber-Krabbe syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
1 MeSH reference: D013341
COMMON
SIGNS 		- Autism / autistic disoders
- Cavernous / tuberous hemangioma
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Macules
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus

Cowden syndrome
Sturge-Weber syndrome

Very frequent
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- 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
- Fissured / scrotal tongue
- Hairy patch
- 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
- 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
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Scoliosis
- 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
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intracranial / cerebral calcifications
- Ptosis
- Strabismus / squint
- Vascular anomalies of skin / mucosae

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Anomalies of eyes and vision
- Areflexia / hyporeflexia
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Bone tumefaction / swelling
- Cerebral vascular anomalies
- Choroidal anomalies / atrophy / choroideremia
- Coloboma of iris
- Facial pain / cephalalgia / migraine
- Hematomas
- Hypereflexia
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Pulmonary thromboembolism
- Retinal detachment
- Venous thrombosis / phlebitis / thrombophlebitis
- Visceral angiomatosis (excluding skin)