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Cutaneous mastocytoma

1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Familial thrombocytosis

4 OMIM references -
3 associated genes
26 signs/symptoms

Cutaneous mastocytoma

Familial thrombocytosis

KIT	(UniProt - OMIM)		JAK2	(UniProt - OMIM)
			MPL	(UniProt - OMIM)
			THPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.85)	JAK2

Citations in the biomedical literature:

Cutaneous mastocytoma		Familial thrombocytosis
	Synonym(s): - Cutaneous local mastocytoma - Multiple mastocytoma - Solitary mastocytoma		Synonym(s): - Familial thrombocythemia - Hereditary thrombocythemia

	Classification (Orphanet): - Rare allergic disease - Rare hematologic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references 1 MeSH reference: D054705		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Facial pain / cephalalgia / migraine - Pruritus / itching

Cutaneous mastocytoma		Familial thrombocytosis
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Macules - Mastocytosis - 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		Very frequent - Arterial embolism / thrombosis - Autosomal dominant inheritance - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelet disorders / thrombopathies - Platelets shape anomalies - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Acute ischemia of the lower limbs - Acute ischemic syndrome - Hyperhidrosis / increased sweating - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Splenomegaly - Thoracic / chest pain - Transient cerebral ischemia / stroke Occasional - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Acute leukemia - Dizziness - Early death / lethality - Elocution disorders / dysarthria / dysphonia - Myelodysplastic syndrome - Myeloproliferative syndrome / chronic leukemia - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Spontaneous abortions - Weight loss / loss of appetite / break in weight curve / general health alteration