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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Congenital contractural arachnodactyly
1 OMIM reference -
1 associated gene
21 signs/symptoms
Cowden syndrome
Congenital contractural arachnodactyly

AKT1
(UniProt - OMIM)
 FBN2
(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)
PTEN
(0.63)
FBN2


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
Congenital contractural arachnodactyly
FBN2



Cowden syndrome
Congenital contractural arachnodactyly

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
- Beals syndrome
- Beals-Hecht syndrome
- CCA syndrome
- Distal arthrogryposis type 9
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 systemic or rheumatologic 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: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
1 MeSH reference: C536211
COMMON
SIGNS 		- Autosomal dominant inheritance
- High vaulted / narrow palate
- Kyphosis
- Scoliosis

Cowden syndrome
Congenital contractural arachnodactyly

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
- 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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- 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
- 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
- Arthrogryposis
- Camptodactyly of fingers
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- External ear anomalies
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Long hand / arachnodactyly
- Long limbs / dolichostenomelia
- Muscle anomalies
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Marfanoid morphotype

Occasional
- Aortic dilatation / dilation
- Congenital cardiac anomaly / malformation / cardiopathy
- Duodenal atresia / stenosis / megaduodenum
- Intestinal / gut / bowel malrotation
- Lens dislocation / luxation / subluxation / ectopia lentis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis