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X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Pseudoxanthomatous diffuse cutaneous mastocytosis

1 associated gene
3 signs/symptoms

X-linked lymphoproliferative disease

Pseudoxanthomatous diffuse cutaneous mastocytosis

SH2D1A	(UniProt - OMIM)		KIT	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2D1A	(0.72)	KIT

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Pseudoxanthomatous diffuse cutaneous mastocytosis
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - Infiltrative small vesicular DCM - Infiltrative small vesicular diffuse cutaneous mastocytosis - Pseudoxanthomatous DCM

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare allergic disease - Rare hematologic 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: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: D008232		External references: No OMIM references No MeSH references

X-linked lymphoproliferative disease		Pseudoxanthomatous diffuse cutaneous mastocytosis
	Very frequent - T-cell deficiency / cellular immunity deficiency - X-linked recessive inheritance Frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Hepatomegaly / liver enlargement (excluding storage disease) - Lymphadenopathy / polyadenopathies - Lymphoma - Splenomegaly Occasional - Anaemia		Very frequent - Dermal / subcutaneous infiltration / induration - Mastocytosis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment