Details of Disease | DrugMAP

General Information of Disease (ID: DIS9J6VP)

Disease Name	Buschke-Ollendorff syndrome
Synonyms	dermatofibrosis lenticularis disseminata, isolated; Buschke Ollendorff syndrome; Dermatoosteopoikilosis; Bos; dermatofibrosis lenticularis disseminata with osteopoikilosis; osteopoikilosis, isolated; osteopoikilosis with melorheostosis; dermatofibrosis, disseminated with osteopoikilosis; dermatofibrosis, disseminated, with osteopoikilosis; osteopathia condensans disseminata; disseminated dermatofibrosis with osteopoikilosis; Buschke-Ollendorff syndrome; osteopoikilosis with or without melorheostosis
Definition	Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISFPEQA: Laminopathy DIS5PU87: Skeletal system disorder DIS9J6VP: Buschke-Ollendorff syndrome
Disease Identifiers	MONDO ID MONDO_0008157 MESH ID C537415 UMLS CUI C0265514 OMIM ID 166700 MedGen ID 120545 Orphanet ID 1306 SNOMED CT ID 60399005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD96	TT83C4X	Strong	Genetic Variation	[1]
CRLF1	TT6YF5K	Definitive	Biomarker	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELN	OTFSO7PG	Limited	Biomarker	[3]
KLHL7	OT2OF1O8	Strong	Genetic Variation	[2]
LEMD3	OTILAM4I	Definitive	Autosomal dominant	[4]
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References

1	Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7.
2	Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6.
3	Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.J Bone Miner Res. 2007 Feb;22(2):243-50. doi: 10.1359/jbmr.061102.
4	Melorheostosis in a patient with familial osteopoikilosis. Am J Med Genet. 1997 Oct 3;72(1):43-6. doi: 10.1002/(sici)1096-8628(19971003)72:1<43::aid-ajmg9>3.0.co;2-w.