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X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Proteus-like syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

X-linked lymphoproliferative disease

Proteus-like syndrome

SH2D1A	(UniProt - OMIM)		PTEN	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	XIAP	(0.75)	PTEN

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Proteus-like syndrome
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - Cohen-Hayden syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

X-linked lymphoproliferative disease		Proteus-like syndrome
	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 - 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