BFHD
MCID: BKS003
MIFTS: 32

Beukes Hip Dysplasia (BFHD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Beukes Hip Dysplasia

MalaCards integrated aliases for Beukes Hip Dysplasia:

Name: Beukes Hip Dysplasia 57 75 37 29 6
Hip Dysplasia, Beukes Type 57 59 75 13 73
Beukes Familial Hip Dysplasia 57 53 59 75
Bfhd 57 53 59 75
Osteoarthropathy, Premature Degenerative, of Hip 57 53
Cilliers-Beighton Syndrome 53 59
Premature Degenerative Osteoarthropathy of the Hip 59
Premature Degenerative Osteoarthropathy 75
Beukes Familial Hip Dysplasia; Bfhd 57
Hip Dislocation, Congenital 44
Dysplasia, Hip, Beukes Type 40
Hip Dysplasia Beukes Type 53
Bhd 57

Characteristics:

Orphanet epidemiological data:

59
hip dysplasia, beukes type
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
described in single afrikaner family
variable severity of clinical and radiologic manifestations
penetrance estimated to be 80%
onset in early childhood


HPO:

32
beukes hip dysplasia:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 142669
Orphanet 59 ORPHA2114
ICD10 via Orphanet 34 Q65.8
UMLS via Orphanet 74 C1840572
MedGen 42 C1840572
KEGG 37 H01817
ICD10 33 Q65.0 Q65.1
UMLS 73 C1840572

Summaries for Beukes Hip Dysplasia

NIH Rare Diseases : 53 Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only affects the hip joint. A person with BHD is similar in height to other family members. There are no other health problems associated with BHD.  Beukes hip dysplasia (BHD) causes severe progressive degenerative osteoarthritis of the hip joint in early adulthood. Symptoms of hip joint pain and discomfort usually begin in infancy or later childhood, but may also begin as late as the mid-30s. Severity of the condition varies even among family members. In fact some people who inherit the change or mutation in the gene which causes BHD never develop any problems with their hip joint. After symptoms begin, the characteristic signs of secondary osteoarthritis (including bone sclerosis, cyst formation and narrowing of the joint space) develop and the joint deteriorates rapidly. Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery.   As of 2015, BHD has only been found in relatives of a single family in South Africa who were of European descent. BHD has affected many generations and members of this family. Family members with BHD now live in other parts of the world as well.

MalaCards based summary : Beukes Hip Dysplasia, also known as hip dysplasia, beukes type, is related to birt-hogg-dube syndrome and bobble-head doll syndrome. An important gene associated with Beukes Hip Dysplasia is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone and kidney, and related phenotypes are osteoarthritis and scoliosis

OMIM : 57 Beukes hip dysplasia is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of BHD include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015). (142669)

UniProtKB/Swiss-Prot : 75 Beukes familial hip dysplasia: A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems.

Related Diseases for Beukes Hip Dysplasia

Diseases related to Beukes Hip Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 12.3
2 bobble-head doll syndrome 11.8
3 pneumothorax, primary spontaneous 11.2
4 cyprus facial neuromusculoskeletal syndrome 11.1
5 discoid fibromas, familial multiple 11.0
6 kidney cancer 10.3
7 renal cell carcinoma, nonpapillary 10.1
8 pneumothorax 10.1
9 colorectal cancer 10.0
10 oncocytoma 10.0
11 gastric cancer 10.0
12 chromophobe renal cell carcinoma 10.0
13 cystadenocarcinoma 10.0
14 purpura 10.0
15 fibromatosis 10.0

Graphical network of the top 20 diseases related to Beukes Hip Dysplasia:



Diseases related to Beukes Hip Dysplasia

Symptoms & Phenotypes for Beukes Hip Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Skeletal Pelvis:
widened proximal femoral metaphyses (early childhood)
delayed appearance the secondary ossification center of the femoral head (early childhood)
irregular proximal epiphyseal line of the femur (early childhood)
coxa plana (mid-childhood)
broadening of the femoral neck (mid-childhood)
more

Clinical features from OMIM:

142669

Human phenotypes related to Beukes Hip Dysplasia:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
4 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
5 abnormality of bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004348
6 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
7 broad femoral neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0006429
8 abnormal ossification involving the femoral head and neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0009107
9 abnormality of the epiphysis of the femoral head 59 32 hallmark (90%) Very frequent (99-80%) HP:0010574
10 abnormality of epiphysis morphology 59 Very frequent (99-80%)
11 abnormal bone ossification 59 Very frequent (99-80%)
12 wide proximal femoral metaphysis 32 HP:0008783
13 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
14 flat capital femoral epiphysis 32 HP:0003370
15 shallow acetabular fossae 32 HP:0003182
16 irregular capital femoral epiphysis 32 HP:0005041

Drugs & Therapeutics for Beukes Hip Dysplasia

Search Clinical Trials , NIH Clinical Center for Beukes Hip Dysplasia

Cochrane evidence based reviews: hip dislocation, congenital

Genetic Tests for Beukes Hip Dysplasia

Genetic tests related to Beukes Hip Dysplasia:

# Genetic test Affiliating Genes
1 Beukes Hip Dysplasia 29 UFSP2

Anatomical Context for Beukes Hip Dysplasia

MalaCards organs/tissues related to Beukes Hip Dysplasia:

41
Bone, Kidney

Publications for Beukes Hip Dysplasia

Articles related to Beukes Hip Dysplasia:

# Title Authors Year
1
Identification of a mutation in the ubiquitin-fold modifier 1- specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. ( 26428751 )
2015

Variations for Beukes Hip Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Beukes Hip Dysplasia:

75
# Symbol AA change Variation ID SNP ID
1 UFSP2 p.Tyr290His VAR_074673 rs796052130
2 UFSP2 p.Asp426Ala VAR_079708

ClinVar genetic disease variations for Beukes Hip Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UFSP2 NM_018359.3(UFSP2): c.868T> C (p.Tyr290His) single nucleotide variant Pathogenic rs796052130 GRCh37 Chromosome 4, 186329553: 186329553
2 UFSP2 NM_018359.3(UFSP2): c.868T> C (p.Tyr290His) single nucleotide variant Pathogenic rs796052130 GRCh38 Chromosome 4, 185408399: 185408399
3 UFSP2 NM_018359.3(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 185403540: 185403540
4 UFSP2 NM_018359.3(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 186324694: 186324694

Expression for Beukes Hip Dysplasia

Search GEO for disease gene expression data for Beukes Hip Dysplasia.

Pathways for Beukes Hip Dysplasia

GO Terms for Beukes Hip Dysplasia

Sources for Beukes Hip Dysplasia

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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