ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

X-linked lymphoproliferative disease

Autosomal recessive limb-girdle muscular dystrophy type 2H

SH2D1A	(UniProt - OMIM)		TRIM32	(UniProt - OMIM)
XIAP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	XIAP	(0.65)	TRIM32

Citations in the biomedical literature:

X-linked lymphoproliferative disease		Autosomal recessive limb-girdle muscular dystrophy type 2H
	Synonym(s): - Duncan disease - Purtilo syndrome - XLP		Synonym(s): - LGMD2H - Limb-girdle muscular dystrophy due to TRIM32 deficiency - Sarcotubular myopathy

	Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare genetic disease - 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: unknown Average age onset: childhood Average age of death: no data available 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		Autosomal recessive limb-girdle muscular dystrophy type 2H
	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 - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance - Expressionless face / amimia - Myopathy Frequent - Tall stature / gigantism / growth acceleration