Details of Disease | DrugMAP

General Information of Disease (ID: DIS5B6O8)

Disease Name	Nestor-Guillermo progeria syndrome
Synonyms	progeria syndrome, childhood-onset, with osteolysis; PSCOO; Nestor-Guillermo progeria syndrome; NGPS
Disease Hierarchy	DIS3GF09: Progeria DISCPWH9: Autosomal recessive disease DISOTEY1: Primary osteolysis DIS5B6O8: Nestor-Guillermo progeria syndrome
Disease Identifiers	MONDO ID MONDO_0013523 UMLS CUI C3151446 OMIM ID 614008 MedGen ID 462796 Orphanet ID 280576 SNOMED CT ID 773331001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BANF1	OTP7Z38L	Strong	Autosomal recessive	[1]
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References

1	Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5.