BBDS
MCID: BNT003
MIFTS: 37

Bent Bone Dysplasia Syndrome (BBDS) malady

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

Aliases & Classifications for Bent Bone Dysplasia Syndrome

Aliases & Descriptions for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 54 50 24 66 29 13 69
Bbds 24 66
Perinatal Lethal Bent Bone Dysplasia 56
Fgfr2-Related Bent Bone Dysplasia 56
Bent Bone Dysplasia -Fgfr2 Type 50

Characteristics:

Orphanet epidemiological data:

56
fgfr2-related bent bone dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
bent bone dysplasia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614592
Orphanet 56 ORPHA313855
MedGen 40 C3281247
MeSH 42 D001848

Summaries for Bent Bone Dysplasia Syndrome

NIH Rare Diseases : 50 bent bone dysplasia syndrome is 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 hypogonadotropic hypogonadism 14 with or without anosmia and gastric cancer, somatic, 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 Downstream signaling events of B Cell Receptor (BCR) and Pathways in 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 : 66 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:

id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 14 with or without anosmia 9.9 ERBB2 FGFR2
2 gastric cancer, somatic 9.9 ERBB2 FGFR2
3 progesterone-receptor negative breast cancer 9.9 ERBB2 FGFR2
4 familial glucocorticoid deficiency 9.8 ERBB2 FGFR2
5 muscular dystrophy-dystroglycanopathy , type b, 2 9.8 ERBB2 FGFR2
6 tuberculosis 9.8
7 miliary tuberculosis 9.8
8 ocular melanoma 9.8 ERBB2 FGFR2
9 testicular cancer 9.7 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 by clinical synopsis from OMIM:

614592

Clinical features from OMIM:

614592

Human phenotypes related to Bent Bone Dysplasia Syndrome:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatosplenomegaly 56 32 Occasional (29-5%) HP:0001433
2 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
3 low-set ears 56 32 Very frequent (99-80%) HP:0000369
4 osteopenia 56 32 Very frequent (99-80%) HP:0000938
5 gingival overgrowth 56 32 Very frequent (99-80%) HP:0000212
6 micrognathia 56 32 Very frequent (99-80%) HP:0000347
7 megalocornea 56 32 Very frequent (99-80%) HP:0000485
8 coronal craniosynostosis 56 32 Very frequent (99-80%) HP:0004440
9 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
10 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
11 congenital stationary night blindness 56 32 Very frequent (99-80%) HP:0007642
12 decreased calvarial ossification 56 32 Very frequent (99-80%) HP:0005474
13 short clavicles 56 32 Very frequent (99-80%) HP:0000894
14 hypoplastic ischia 56 32 Very frequent (99-80%) HP:0003175
15 hirsutism 56 32 Very frequent (99-80%) HP:0001007
16 bell-shaped thorax 56 32 Very frequent (99-80%) HP:0001591
17 natal tooth 56 32 Very frequent (99-80%) HP:0000695
18 bowing of the legs 56 32 Occasional (29-5%) HP:0002979
19 extramedullary hematopoiesis 56 32 Very frequent (99-80%) HP:0001978
20 overfolding of the superior helices 56 32 Very frequent (99-80%) HP:0004453
21 steep acetabular roof 56 32 Very frequent (99-80%) HP:0010455
22 metopic depression 56 32 Very frequent (99-80%) HP:0011223
23 incomplete ossification of pubis 56 32 Very frequent (99-80%) HP:0030042
24 abnormality of the periosteum 56 32 Very frequent (99-80%) HP:0040166
25 malar flattening 32 HP:0000272
26 abnormality of the lower limb 56 Occasional (29-5%)
27 clitoromegaly 56 Very frequent (99-80%)
28 abnormality of the outer ear 56 Very frequent (99-80%)
29 clitoral hypertrophy 32 HP:0008665

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

26
id 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:

id Genetic test Affiliating Genes
1 Bent Bone Dysplasia Syndrome 29 24 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

39
Bone, Eye

Publications for Bent Bone Dysplasia Syndrome

Articles related to Bent Bone Dysplasia Syndrome:

id Title Authors Year
1
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:

66
id 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
id 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/Likely 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:

id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.46 ERBB2 FGFR2
2 protein autophosphorylation GO:0046777 9.43 ERBB2 FGFR2
3 peptidyl-tyrosine phosphorylation GO:0018108 9.4 ERBB2 FGFR2
4 phosphatidylinositol-mediated signaling GO:0048015 9.37 ERBB2 FGFR2
5 phosphatidylinositol phosphorylation GO:0046854 9.32 ERBB2 FGFR2
6 wound healing GO:0042060 9.26 ERBB2 FGFR2
7 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.16 ERBB2 FGFR2
8 positive regulation of epithelial cell proliferation GO:0050679 8.96 ERBB2 FGFR2
9 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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