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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
Developmental malformations - deafness - dystonia
1 OMIM reference -
1 associated gene
22 signs/symptoms
Cowden syndrome
Developmental malformations - deafness - dystonia

AKT1
(UniProt - OMIM)
 ACTB
(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)
AKT1
(0.72)
ACTB


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
Developmental malformations - deafness - dystonia
ACTB



Cowden syndrome
Developmental malformations - deafness - dystonia

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
(no synonyms)
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 genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Cataract / lens opacification
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Scoliosis
- Short stature / dwarfism / nanism

Cowden syndrome
Developmental malformations - deafness - dystonia

Very frequent
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- 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
- 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
- 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
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- 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
- Cleft lip and palate
- Dystonia / torticollis / writer's cramp / blepharospasms
- Early death in adulthood
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional colopathy / irritable bowel syndrome
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Psychic / psychomotor regression / dementia / intellectual decline
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sensorineural deafness / hearing loss
- Short limbs / micromelia / brachymelia

Frequent
- Visual loss / blindness / amblyopia