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Alpha-crystallinopathy

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

Alpha-crystallinopathy

X-linked lymphoproliferative disease

CRYAB	(UniProt - OMIM)		SH2D1A	(UniProt - OMIM)
			XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CRYAB	(0.63)	XIAP

Citations in the biomedical literature:

Alpha-crystallinopathy		X-linked lymphoproliferative disease
	Synonym(s): - CRYAB-related myofobrillar myopathy		Synonym(s): - Duncan disease - Purtilo syndrome - XLP

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

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

X-linked lymphoproliferative disease
	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
Alpha-crystallinopathy
(no data available)