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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Localized epidermolysis bullosa simplex

PTEN KRT14
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.63)
KRT14



Citations in the biomedical literature:


Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN
Localized epidermolysis bullosa simplex
KRT14 KRT5



Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Localized epidermolysis bullosa simplex

Synonym(s):
- SOLAMEN syndrome

Synonym(s):
- EBS-loc
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Localized epidermolysis bullosa simplex

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- 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
- Hemiplegia / diplegia / hemiparesia / limb palsy
- 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
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Hyperhidrosis / increased sweating