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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Autoimmune lymphoproliferative syndrome with recurrent infections
Proteus-like syndrome

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
Proteus-like syndrome
PTEN



Autoimmune lymphoproliferative syndrome with recurrent infections
Proteus-like syndrome

Synonym(s):
- ALPS with recurrent infections

Synonym(s):
- Cohen-Hayden syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (Orphanet):
- 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):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Proteus-like syndrome

Very frequent
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Conjunctival tumor / epibulbar dermoid
- Dental malocclusion
- Exostoses
- Genu recurvatum
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / in bands / reticular skin hyperpigmentation
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Myopia
- Pigmented naevi / naevus pigmentosus / lentigo
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Xanthomas / lipomas

Frequent
- Cataract / lens opacification
- Communicating hydrocephaly
- Heterochromia / mixed colouring of iris
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Parathyroids anomalies
- Prognathism / prognathia
- Retinal detachment
- Shagreen patch
- Varices / varicous veins / venous insufficiency



Autoimmune lymphoproliferative syndrome with recurrent infections

(no data available)