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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autoimmune lymphoproliferative syndrome with recurrent infections
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

CASP8 PTEN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CASP8
(0.63)
PTEN



Citations in the biomedical literature:


Autoimmune lymphoproliferative syndrome with recurrent infections
CASP8
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN



Autoimmune lymphoproliferative syndrome with recurrent infections
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Synonym(s):
- ALPS with recurrent infections

Synonym(s):
- SOLAMEN syndrome

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

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

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

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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
- 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)


Autoimmune lymphoproliferative syndrome with recurrent infections

(no data available)