ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

X-linked lymphoproliferative disease

Kennedy disease

SH2D1A	(UniProt - OMIM)		AR	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2D1A	(0.72)	AR

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Kennedy disease
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - Rare infertility - Rare neurologic disease

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

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: x-linked recessive

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


COMMON SIGNS	- X-linked recessive inheritance

X-linked lymphoproliferative disease		Kennedy disease
	Very frequent - T-cell deficiency / cellular immunity deficiency Frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Hepatomegaly / liver enlargement (excluding storage disease) - Lymphadenopathy / polyadenopathies - Lymphoma - Splenomegaly Occasional - Anaemia		Very frequent - Abnormal gait - Areflexia / hyporeflexia - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Impotence / painful erection / priapism / erection troubles - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia