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
21 signs/symptoms

X-linked lymphoproliferative disease

X-linked Charcot-Marie-Tooth disease type 4

SH2D1A	(UniProt - OMIM)		AIFM1	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	XIAP	(0.83)	AIFM1

Citations in the biomedical literature:

X-linked lymphoproliferative disease		X-linked Charcot-Marie-Tooth disease type 4
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - CMT4X - CMTX4 - Cowchock syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic 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 / 1 000 000 Average age onset: childhood Average age of death: - 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		X-linked Charcot-Marie-Tooth disease type 4
	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 - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit Frequent - Hearing loss / hypoacusia / deafness - Insensitivity to pain - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Motor deficit / trouble - Scoliosis Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor