Details of Disease

General Information of Disease (ID: DISIN5TD)

Disease Name Birt-Hogg-Dube syndrome
Synonyms BHD
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS3HIWD: Autosomal dominant disease
DISIN5TD: Birt-Hogg-Dube syndrome
Disease Identifiers
MONDO ID
MONDO_0800444
MESH ID
D058249
UMLS CUI
C0346010
OMIM ID
135150
MedGen ID
91070
Orphanet ID
122
SNOMED CT ID
1263460007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MPRIP OT5FV5NS moderate CausalMutation [1]
CCM2 OT2I5DOW Strong Genetic Variation [2]
FNIP1 OTB1CC41 Strong Biomarker [3]
FNIP2 OT7EX8JJ Strong Biomarker [4]
SSH2 OT8NCK82 Strong Biomarker [5]
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References

1 Cutaneous melanoma in Birt-Hogg-Dub syndrome: part of the clinical spectrum?.Br J Dermatol. 2018 Feb;178(2):e132-e133. doi: 10.1111/bjd.15937. Epub 2018 Jan 7.
2 Genetically diagnosed Birt-Hogg-Dub syndrome and familial cerebral cavernous malformations in the same individual: a case report.Fam Cancer. 2017 Jan;16(1):139-142. doi: 10.1007/s10689-016-9928-y.
3 The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dub syndrome is required for murine B-cell development.Blood. 2012 Aug 9;120(6):1254-61. doi: 10.1182/blood-2012-02-410407. Epub 2012 Jun 18.
4 Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14.
5 Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dub tumour suppressor gene (FLCN).Oncogene. 2014 Feb 20;33(8):956-65. doi: 10.1038/onc.2013.27. Epub 2013 Feb 18.