BBDS
MCID: BNT003
MIFTS: 41

Bent Bone Dysplasia Syndrome (BBDS)

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

Aliases & Classifications for Bent Bone Dysplasia Syndrome

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 58 54 76 30 13 6 74
Bbds 58 76
Perinatal Lethal Bent Bone Dysplasia 60
Fgfr2-Related Bent Bone Dysplasia 60
Bent Bone Dysplasia -Fgfr2 Type 54
Dysplasia, Bent Bone Syndrome 41

Characteristics:

Orphanet epidemiological data:

60
fgfr2-related bent bone dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bent bone dysplasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : 54 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones.  Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia).  This condition is associated with mutations in the FGFR2 gene.

MalaCards based summary : Bent Bone Dysplasia Syndrome, also known as bbds, is related to breast disease and breast cancer. An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 76 Bent bone dysplasia syndrome: A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.

Description from OMIM: 614592

Related Diseases for Bent Bone Dysplasia Syndrome

Diseases related to Bent Bone Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 breast disease 10.2
2 breast cancer 10.0
3 multiple sclerosis 10.0
4 myeloma, multiple 10.0
5 miliary tuberculosis 10.0
6 estrogen-receptor positive breast cancer 9.8 ERBB2 FGFR2
7 endometrial adenocarcinoma 9.8 ERBB2 FGFR2
8 adenocarcinoma 9.8 ERBB2 FGFR2
9 uterine carcinosarcoma 9.7 ERBB2 FGFR2
10 gastric adenocarcinoma 9.7 ERBB2 FGFR2
11 squamous cell carcinoma 9.7 ERBB2 FGFR2
12 glioblastoma 9.6 ERBB2 FGFR2
13 endometrial cancer 9.5 ERBB2 FGFR2

Graphical network of the top 20 diseases related to Bent Bone Dysplasia Syndrome:



Diseases related to Bent Bone Dysplasia Syndrome

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

Human phenotypes related to Bent Bone Dysplasia Syndrome:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
3 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
4 gingival overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000212
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 megalocornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000485
7 coronal craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004440
8 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
9 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
10 congenital stationary night blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007642
11 decreased calvarial ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0005474
12 short clavicles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000894
13 hypoplastic ischia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003175
14 bell-shaped thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0001591
15 hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001007
16 natal tooth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000695
17 extramedullary hematopoiesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001978
18 overfolding of the superior helices 60 33 hallmark (90%) Very frequent (99-80%) HP:0004453
19 steep acetabular roof 60 33 hallmark (90%) Very frequent (99-80%) HP:0010455
20 metopic depression 60 33 hallmark (90%) Very frequent (99-80%) HP:0011223
21 incomplete ossification of pubis 60 33 hallmark (90%) Very frequent (99-80%) HP:0030042
22 abnormality of the periosteum 60 33 hallmark (90%) Very frequent (99-80%) HP:0040166
23 clitoral hypertrophy 33 hallmark (90%) HP:0008665
24 hepatosplenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001433
25 bowing of the legs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002979
26 malar flattening 33 HP:0000272
27 abnormality of the lower limb 60 Occasional (29-5%)
28 clitoromegaly 60 Very frequent (99-80%)
29 abnormality of the outer ear 60 Very frequent (99-80%)
30 abnormally large globe 33 HP:0001090

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
megalophthalmos

Head And Neck Face:
micrognathia
midface hypoplasia

Skeletal Hands:
brachydactyly
areas of periosteal reaction
areas of deficient ossification

Chest External Features:
bell-shaped thorax

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic clavicles
decreased mineralization of inferior margin of scapula

Head And Neck Head:
open metopic suture

Abdomen Liver:
hepatosplenomegaly (rare)

Skeletal Pelvis:
narrow acetabular roof
narrowed ischia
decreased mineralization of pubis

Hematology:
hepatosplenomegaly, with extramedullary hematopoiesis (rare)

Head And Neck Ears:
low-set ears
overfolded superior helix
deficient auricle

Skeletal Skull:
coronal craniosynostosis
diminished mineralization of the calvarium

Genitourinary External Genitalia Female:
clitoromegaly

Skin Nails Hair Hair:
hirsutism

Head And Neck Mouth:
gingival hyperplasia

Head And Neck Teeth:
prenatal teeth

Abdomen Spleen:
hepatosplenomegaly (rare)

Skeletal Limbs:
bending of long bones to varying degrees, particularly femora
prominent periosteum

Clinical features from OMIM:

614592

GenomeRNAi Phenotypes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.62 ERBB2 FGFR2

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

Genetic tests related to Bent Bone Dysplasia Syndrome:

# Genetic test Affiliating Genes
1 Bent Bone Dysplasia Syndrome 30 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

42
Bone, Eye

Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

# Title Authors Year
1
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. ( 28595297 )
2017
2
Cyclohexenylboration of Aldehydes and Ketones with the Borabicyclo[3.3.2]decanes (BBDs). ( 26284657 )
2015
3
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. ( 24908667 )
2014
4
(E)-2-boryl 1,3-dienes from the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-α,β-disubstituted β-allenylamines from the allylboration of aldimines. ( 25003976 )
2014
5
(E)-2-boryl-1,3-butadiene derivatives of the 10-TMS-9-BBDs: highly selective reagents for the asymmetric synthesis of anti-1,2-disubstituted 3,4-pentadien-1-ols. ( 19580266 )
2009

Variations for Bent Bone Dysplasia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Tyr381Asp VAR_067977 rs387906678
2 FGFR2 p.Met391Arg VAR_067978 rs387906677

ClinVar genetic disease variations for Bent Bone Dysplasia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1172T> G (p.Met391Arg) single nucleotide variant Pathogenic rs387906677 GRCh37 Chromosome 10, 123274746: 123274746
2 FGFR2 NM_000141.4(FGFR2): c.1172T> G (p.Met391Arg) single nucleotide variant Pathogenic rs387906677 GRCh38 Chromosome 10, 121515232: 121515232
3 FGFR2 NM_000141.4(FGFR2): c.1141T> G (p.Tyr381Asp) single nucleotide variant Pathogenic rs387906678 GRCh37 Chromosome 10, 123274777: 123274777
4 FGFR2 NM_000141.4(FGFR2): c.1141T> G (p.Tyr381Asp) single nucleotide variant Pathogenic rs387906678 GRCh38 Chromosome 10, 121515263: 121515263

Expression for Bent Bone Dysplasia Syndrome

Search GEO for disease gene expression data for Bent Bone Dysplasia Syndrome.

Pathways for Bent Bone Dysplasia Syndrome

Pathways related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.27 ERBB2 FGFR2
2 12.18 ERBB2 FGFR2
3
Show member pathways
12.16 ERBB2 FGFR2
4
Show member pathways
12.12 ERBB2 FGFR2
5
Show member pathways
12.12 ERBB2 FGFR2
6
Show member pathways
11.9 ERBB2 FGFR2
7
Show member pathways
11.83 ERBB2 FGFR2
8
Show member pathways
11.74 ERBB2 FGFR2
9
Show member pathways
11.55 ERBB2 FGFR2
10 11.41 ERBB2 FGFR2
11 11.33 ERBB2 FGFR2
12 11.15 ERBB2 FGFR2
13 10.78 ERBB2 FGFR2
14 10.77 ERBB2 FGFR2
15 10.46 ERBB2 FGFR2
16 10.28 ERBB2 FGFR2

GO Terms for Bent Bone Dysplasia Syndrome

Cellular components related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 ERBB2 FGFR2

Biological processes related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.46 ERBB2 FGFR2
2 peptidyl-tyrosine phosphorylation GO:0018108 9.43 ERBB2 FGFR2
3 protein autophosphorylation GO:0046777 9.4 ERBB2 FGFR2
4 positive regulation of protein kinase B signaling GO:0051897 9.37 ERBB2 FGFR2
5 positive regulation of MAPK cascade GO:0043410 9.32 ERBB2 FGFR2
6 phosphatidylinositol phosphorylation GO:0046854 9.26 ERBB2 FGFR2
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.18 FGFR2
8 wound healing GO:0042060 9.16 ERBB2 FGFR2
9 positive regulation of epithelial cell proliferation GO:0050679 8.96 ERBB2 FGFR2
10 regulation of ERK1 and ERK2 cascade GO:0070372 8.62 ERBB2 FGFR2

Molecular functions related to Bent Bone Dysplasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.4 ERBB2 FGFR2
2 nucleotide binding GO:0000166 9.37 ERBB2 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.26 ERBB2 FGFR2
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.16 ERBB2 FGFR2
5 transmembrane signaling receptor activity GO:0004888 9.02 ERBB2
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 ERBB2 FGFR2
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 ERBB2 FGFR2

Sources for Bent Bone Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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