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X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Bartsocas-Papas syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

X-linked lymphoproliferative disease

Bartsocas-Papas syndrome

SH2D1A	(UniProt - OMIM)		RIPK4	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	XIAP	(0.59)	RIPK4

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Bartsocas-Papas syndrome
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - Autosomal recessive popliteal pterygium syndrome - Lethal popliteal pterygium syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: before age 5 Type of inheritance: autosomal recessive

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

X-linked lymphoproliferative disease		Bartsocas-Papas 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 - Absent / decreased lashes - Absent / decreased / thin eyebrows - Autosomal recessive inheritance - Cleft lip and palate - Cryptophthalmia / ankyloblepharon / synblepharon - Distal phalangeal bones of toes hypoplasia / absence - Early death / lethality - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Limited opening of the mouth - Median cleft lip - Microcephaly - Popliteal web - Structural anomalies of the genital system - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Synostosis - Talipes-varus / metatarsal varus - Thin / hypoplastic toenails Frequent - Coloboma of the eyelid - Corneal clouding / opacity / vascularisation - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Short / small nose - Thin / hypoplastic ala nasi - Thumb hypoplasia / aplasia / absence Occasional - Agenesis / hypoplasia / aplasia of kidneys - Congenital cardiac anomaly / malformation / cardiopathy