ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STAT1	(0.63)	VCP

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - MSMD due to partial STAT1 deficiency - MSMD due to partial signal transducer and activator of transcription 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.