Details of Disease | DrugMAP

General Information of Disease (ID: DISSTSIF)

Disease Name	Hip dysplasia, Beukes type
Synonyms	BHD; Beukes hip dysplasia; hip dysplasia Beukes type; osteoarthropathy, premature degenerative, of hip; hip dysplasia, Beukes type; BFHD; premature degenerative osteoarthropathy of the hip; Cilliers-Beighton syndrome; Beukes familial hip dysplasia
Definition	Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISSTSIF: Hip dysplasia, Beukes type
Disease Identifiers	MONDO ID MONDO_0007726 UMLS CUI C1840572 OMIM ID 142669 MedGen ID 333593 Orphanet ID 2114 SNOMED CT ID 721148005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UFSP2	OTTO00PC	Supportive	Autosomal dominant	[1]
FNIP2	OT7EX8JJ	Strong	Biomarker	[2]
SSH2	OT8NCK82	Strong	Biomarker	[3]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	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.
3	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.