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Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Bohring-Opitz syndrome
1 OMIM reference -
1 associated gene
52 signs/symptoms
Cowden syndrome
Bohring-Opitz syndrome

AKT1
(UniProt - OMIM)
 ASXL1
(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
(0.76)
ASXL1


Citations in the biomedical literature:


Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD
Bohring-Opitz syndrome
ASXL1



Cowden syndrome
Bohring-Opitz syndrome

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Synonym(s):
- BOS syndrome
- Bohring syndrome
- C-like syndrome
- Oberklaid-Danks syndrome
- Opitz trigonocephaly-like syndrome
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
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:
(no data available)
External references:
6 OMIM references -
1 MeSH reference: D006223
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopia
- Renal / kidney anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Cowden syndrome
Bohring-Opitz 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
- 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
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- High vaulted / narrow palate
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Pectus excavatum
- Retinal vascular anomalies / retinal telangiectasia
- 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
- Beaked nose
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Flat supraorbital ridge
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow forehead
- Proptosis / exophthalmos
- Restricted joint mobility / joint stiffness / ankylosis
- Trigonocephaly
- Ulnar deviation of fingers
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormally placed nipples
- Anomalies of spine, vertebrae and pelvis
- Anterior chamber anomaly
- Cleft lip
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertelorism
- Intestinal / gut / bowel malrotation
- Narrow rib cage / thorax
- Oral synechiae / abnormal frenulae
- Retinopathy
- Short rib cage / thorax
- Strabismus / squint
- Structural anomalies of the pancreas
- Supernumerary nipples / polythelia
- Synophris / synophrys

Occasional
- Dandy-Walker anomaly
- Inguinal / inguinoscrotal / crural hernia
- Polyhydramnios
- Small foot
- Talipes-varus / metatarsal varus