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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 associated gene
11 signs/symptoms
Parkes Weber syndrome
Cutaneous mastocytoma

RASA1 KIT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RASA1
(0.83)
KIT



Citations in the biomedical literature:


Parkes Weber syndrome
RASA1
Cutaneous mastocytoma
KIT



Parkes Weber syndrome
Cutaneous mastocytoma

Synonym(s):
(no synonyms)

Synonym(s):
- Cutaneous local mastocytoma
- Multiple mastocytoma
- Solitary mastocytoma

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D054705


COMMON
SIGNS
- Facial pain / cephalalgia / migraine


Parkes Weber syndrome
Cutaneous mastocytoma

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Global upper and lower limbs anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Muscle hypertrophy
- Peripheral arteriovenous fistula
- Telangiectasiae of the skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy

Frequent
- Varices / varicous veins / venous insufficiency

Occasional
- Glaucoma
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Vascular anomalies of skin / mucosae


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Macules
- Mastocytosis
- Pruritus / itching
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Thick skin / pachydermia / orange skin

Occasional
- Acute abdominal pain / colic
- Hot flushes / sensation of cold