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X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Brachydactyly type A2

1 OMIM reference -
3 associated genes
6 signs/symptoms

X-linked lymphoproliferative disease

Brachydactyly type A2

SH2D1A	(UniProt - OMIM)		BMP2	(UniProt - OMIM)
XIAP	(UniProt - OMIM)		BMPR1B	(UniProt - OMIM)
			GDF5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	XIAP	(0.63)	BMPR1B

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Brachydactyly type A2
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - Brachydactyly, Mohr-Wriedt type

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: D008232		External references: 1 OMIM reference - 1 MeSH reference: C537089

X-linked lymphoproliferative disease		Brachydactyly type A2
	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 - Autosomal dominant inheritance - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia