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Bullous diffuse cutaneous mastocytosis

1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

Bullous diffuse cutaneous mastocytosis

Metachondromatosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.9)	PTPN11

Citations in the biomedical literature:

Bullous diffuse cutaneous mastocytosis		Metachondromatosis
	Synonym(s): - Bullous DCM		Synonym(s): (no synonyms)

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

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

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

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

Bullous diffuse cutaneous mastocytosis		Metachondromatosis
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Mastocytosis - Pruritus / itching - Urticaria - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications