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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
22 signs/symptoms
Chronic myelomonocytic leukemia
Proteus-like syndrome

ETV6 PTEN
PDGFRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFRB
(0.85)
PTEN



Citations in the biomedical literature:


Chronic myelomonocytic leukemia
ETV6 PDGFRB
Proteus-like syndrome
PTEN



Chronic myelomonocytic leukemia
Proteus-like syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Cohen-Hayden syndrome

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
1 MeSH reference: D015477
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



Chronic myelomonocytic leukemia

(no data available)