ODCs

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X-linked lymphoproliferative disease

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Bannayan-Riley-Ruvalcaba syndrome

1 OMIM reference -
1 associated gene
55 signs/symptoms

X-linked lymphoproliferative disease

Bannayan-Riley-Ruvalcaba 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		Bannayan-Riley-Ruvalcaba syndrome
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - BRRS - Myhre-Riley-Smith syndrome - Syndrome de Myhre-Rikey-Smith

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare neurologic 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: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Lymphoma

X-linked lymphoproliferative disease		Bannayan-Riley-Ruvalcaba 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 - Splenomegaly Occasional - Anaemia		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Breast neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Irregular / in bands / reticular skin hyperpigmentation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Polyposis of the bowel / colon / intestine - Short stature / dwarfism / nanism - Visceral angiomatosis (excluding skin) - Xanthomas / lipomas Frequent - Mucosal / cutaneous hemorrhage - Pectus excavatum - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Angor pectoris / myocardial infarction - Anteverted nares / nostrils - Aortic dilatation / dilation - Broad nose / nasal bridge - Broad / bifid thumb - Cafe-au-lait spot - Cortical adrenal neoplasm / tumor / carcinoma / cancer - Cutis marmorata / marbled skin / livedo - Delayed bone age - Dolichocephaly / scaphocephaly - Early death / lethality - Frontal bossing / prominent forehead - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - High vaulted / narrow palate - Hypoglycemia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral / meningeal hemorrhage - Long philtrum - Long / large ear - Lymphedema - Meningioma - Micrognathia / retrognathia / micrognathism / retrognathism - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Myopathy - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - Telangiectasiae of the skin - Thyroid neoplasm / tumor / carcinoma / cancer - Thyroiditis - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy