MCID: BNT003
MIFTS: 39

Bent Bone Dysplasia Syndrome

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

Aliases & Classifications for Bent Bone Dysplasia Syndrome

MalaCards integrated aliases for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 53 49 71 28 13 69
Bbds 53 71
Perinatal Lethal Bent Bone Dysplasia 55
Fgfr2-Related Bent Bone Dysplasia 55
Bent Bone Dysplasia -Fgfr2 Type 49

Characteristics:

Orphanet epidemiological data:

55
fgfr2-related bent bone dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
bent bone dysplasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : 49 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. Last updated: 6/26/2014

MalaCards based summary : Bent Bone Dysplasia Syndrome, also known as bbds, is related to breast cancer and mycobacterium tuberculosis 1, and has symptoms including hepatosplenomegaly, hypertelorism and low-set ears. 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 Gastric cancer. Affiliated tissues include bone and eye, and related phenotype is Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 breast cancer 9.9
2 mycobacterium tuberculosis 1 9.9
3 breast disease 9.9
4 miliary tuberculosis 9.9
5 estrogen-receptor positive breast cancer 9.6 ERBB2 FGFR2
6 adenocarcinoma 9.6 ERBB2 FGFR2
7 squamous cell carcinoma 9.5 ERBB2 FGFR2
8 endometrial cancer 9.4 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
megalophthalmos

Head And Neck Face:
micrognathia
midface hypoplasia

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

Skin Nails Hair Hair:
hirsutism

Head And Neck Mouth:
gingival hyperplasia

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

Chest External Features:
bell-shaped thorax

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

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

Human phenotypes related to Bent Bone Dysplasia Syndrome:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatosplenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001433
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 osteopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000938
5 gingival overgrowth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000212
6 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 megalocornea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000485
8 coronal craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004440
9 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
11 congenital stationary night blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0007642
12 decreased calvarial ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0005474
13 short clavicles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000894
14 hypoplastic ischia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003175
15 hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0001007
16 bell-shaped thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0001591
17 bowing of the legs 55 31 occasional (7.5%) Occasional (29-5%) HP:0002979
18 natal tooth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000695
19 extramedullary hematopoiesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001978
20 overfolding of the superior helices 55 31 hallmark (90%) Very frequent (99-80%) HP:0004453
21 steep acetabular roof 55 31 hallmark (90%) Very frequent (99-80%) HP:0010455
22 metopic depression 55 31 hallmark (90%) Very frequent (99-80%) HP:0011223
23 incomplete ossification of pubis 55 31 hallmark (90%) Very frequent (99-80%) HP:0030042
24 abnormality of the periosteum 55 31 hallmark (90%) Very frequent (99-80%) HP:0040166
25 malar flattening 31 HP:0000272
26 abnormality of the lower limb 55 Occasional (29-5%)
27 clitoromegaly 55 Very frequent (99-80%)
28 abnormality of the outer ear 55 Very frequent (99-80%)
29 clitoral hypertrophy 31 hallmark (90%) HP:0008665

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

25
# 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 28 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

38
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
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. ( 24908667 )
2014

Variations for Bent Bone Dysplasia Syndrome

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

71
# 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.1141T> G (p.Tyr381Asp) single nucleotide variant Pathogenic rs387906678 GRCh37 Chromosome 10, 123274777: 123274777

Expression for Bent Bone Dysplasia Syndrome

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

Pathways for Bent Bone Dysplasia Syndrome

GO Terms for Bent Bone Dysplasia Syndrome

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 9.43 ERBB2 FGFR2
2 protein autophosphorylation GO:0046777 9.4 ERBB2 FGFR2
3 peptidyl-tyrosine phosphorylation GO:0018108 9.37 ERBB2 FGFR2
4 positive regulation of protein kinase B signaling GO:0051897 9.32 ERBB2 FGFR2
5 phosphatidylinositol phosphorylation GO:0046854 9.26 ERBB2 FGFR2
6 wound healing GO:0042060 9.16 ERBB2 FGFR2
7 positive regulation of epithelial cell proliferation GO:0050679 8.96 ERBB2 FGFR2
8 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 9.37 ERBB2 FGFR2
2 nucleotide binding GO:0000166 9.32 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 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 ERBB2 FGFR2
6 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....