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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
6 OMIM references -
7 associated genes
54 signs/symptoms
17p13.3 microduplication syndrome
Cowden syndrome

PAFAH1B1 AKT1
YWHAE KLLN
PIK3CA
PTEN
SDHB
SDHC
SDHD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
AKT1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



17p13.3 microduplication syndrome
Cowden syndrome

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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

External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D006223


COMMON
SIGNS
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability


17p13.3 microduplication syndrome
Cowden syndrome

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


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
- 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
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- 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