Details of Disease | DrugMAP

General Information of Disease (ID: DISJ929R)

Disease Name	Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS7GHNM: Osteopetrosis DISJ929R: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Disease Identifiers	MONDO ID MONDO_0034143 UMLS CUI C5681333 MedGen ID 1805057 Orphanet ID 556985 SNOMED CT ID 1222661007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSF1R	TT7MRDV	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSF1R	OTDYTB9C	Supportive	Autosomal recessive	[1]
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References

1	Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11.