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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Semantic dementia

6 associated genes
No signs/symptoms info

Atelosteogenesis type I

Semantic dementia

FLNB	(UniProt - OMIM)		C9ORF72	(UniProt - OMIM)
			CHMP2B	(UniProt - OMIM)
			GRN	(UniProt - OMIM)
			MAPT	(UniProt - OMIM)
			PSEN1	(UniProt - OMIM)
			VCP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB FLNB	(0.79) (0.49)	PSEN1 VCP

Citations in the biomedical literature:

Atelosteogenesis type I		Semantic dementia
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Semantic primary progressive aphasia - Semantic variant PPA

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: No OMIM references No MeSH references

No signs/symptoms info available.