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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Papilloma of choroid plexus

PTEN TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.87)
TP53



Citations in the biomedical literature:


Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN
Papilloma of choroid plexus
TP53



Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Papilloma of choroid plexus

Synonym(s):
- SOLAMEN syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020288


COMMON
SIGNS
- Hemiplegia / diplegia / hemiparesia / limb palsy


Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Papilloma of choroid plexus

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Heart / cardiac failure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Talipes-varus / metatarsal varus
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)


Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus