Disease

CSF1R-related brain malformation and osteopetrosis

Definition

A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.

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Synonyms

osteoporosis and infantile neuroaxonal dystrophy

Cross References

MIM:600329

Parent Terms

neuroaxonal dystrophy

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

Allele

Species

Association

Disease Qualifier

Disease

Evidence

Source

References

Annotation details

Name	Type	Association	Experimental condition	Genetic Modifiers	Genetic Sex	Notes	Annotation type	Evidence Codes	Source	References
csf1ra^j4e1/j4e1	Fish	is model of	has condition: standard conditions					TAS	ZFIN	PMID:30982608

Danio rerio

is implicated in

CSF1R-related brain malformation and osteopetrosis

TAS

ZFIN

PMID:30982608

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Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
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