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

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Aliases & Descriptions for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 52 48 24 70 27 12 68
Bbds 24 70
Perinatal Lethal Bent Bone Dysplasia 54
 
Fgfr2-Related Bent Bone Dysplasia 54
Bent Bone Dysplasia -Fgfr2 Type 48

Characteristics:

Orphanet epidemiological data:

54
perinatal lethal bent bone dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
bent bone dysplasia syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614592
Orphanet54 ORPHA313855
MedGen37 C3281247
MeSH39 D001848

Summaries for Bent Bone Dysplasia Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways are G-protein signaling_RhoA regulation pathway and Pathways in cancer. Affiliated tissues include bone and eye, and related mouse phenotype 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:70 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:52 614592

Related Diseases for Bent Bone Dysplasia Syndrome

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Graphical network of diseases related to Bent Bone Dysplasia Syndrome:



Diseases related to bent bone dysplasia syndrome

Symptoms & Phenotypes for Bent Bone Dysplasia Syndrome

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Symptoms by clinical synopsis from OMIM:

614592

Clinical features from OMIM:

614592

Human phenotypes related to Bent Bone Dysplasia Syndrome:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clitoromegaly54 Very frequent (99-80%)
2 gingival overgrowth64 54 Very frequent (99-80%) HP:0000212
3 hypertelorism64 54 Very frequent (99-80%) HP:0000316
4 micrognathia64 54 Very frequent (99-80%) HP:0000347
5 abnormality of the outer ear54 Very frequent (99-80%)
6 low-set ears64 54 Very frequent (99-80%) HP:0000369
7 megalocornea64 54 Very frequent (99-80%) HP:0000485
8 natal tooth64 54 Very frequent (99-80%) HP:0000695
9 short clavicles64 54 Very frequent (99-80%) HP:0000894
10 osteopenia64 54 Very frequent (99-80%) HP:0000938
11 hirsutism64 54 Very frequent (99-80%) HP:0001007
12 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
13 hepatosplenomegaly64 54 Occasional (29-5%) HP:0001433
14 bell-shaped thorax64 54 Very frequent (99-80%) HP:0001591
15 extramedullary hematopoiesis64 54 Very frequent (99-80%) HP:0001978
16 coronal craniosynostosis64 54 Very frequent (99-80%) HP:0004440
17 abnormality of the lower limb54 Occasional (29-5%)
18 bowing of the legs64 54 Occasional (29-5%) HP:0002979
19 hypoplastic ischia64 54 Very frequent (99-80%) HP:0003175
20 overfolding of the superior helices64 54 Very frequent (99-80%) HP:0004453
21 decreased calvarial ossification64 54 Very frequent (99-80%) HP:0005474
22 congenital stationary night blindness64 54 Very frequent (99-80%) HP:0007642
23 steep acetabular roof64 54 Very frequent (99-80%) HP:0010455
24 metopic depression64 54 Very frequent (99-80%) HP:0011223
25 midface retrusion64 54 Very frequent (99-80%) HP:0011800
26 incomplete ossification of pubis64 54 Very frequent (99-80%) HP:0030042
27 abnormality of the periosteum64 54 Very frequent (99-80%) HP:0040166
28 malar flattening64 HP:0000272
29 clitoral hypertrophy64 HP:0008665

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00210-A9.1ERBB2, FGFR2

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

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Genetic tests related to Bent Bone Dysplasia Syndrome:

id Genetic test Affiliating Genes
1 Bent Bone Dysplasia Syndrome27 24 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

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MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

36
Bone, Eye

Publications for Bent Bone Dysplasia Syndrome

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Articles related to Bent Bone Dysplasia Syndrome:

idTitleAuthorsYear
1
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. (24908667)
2014

Variations for Bent Bone Dysplasia Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1FGFR2p.Tyr381AspVAR_067977rs387906678
2FGFR2p.Met391ArgVAR_067978rs387906677

Clinvar genetic disease variations for Bent Bone Dysplasia Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_ 000141.4(FGFR2): c.1172T> G (p.Met391Arg)SNVPathogenicrs387906677GRCh37Chr 10, 123274746: 123274746
2FGFR2NM_ 000141.4(FGFR2): c.1141T> G (p.Tyr381Asp)SNVPathogenic/ Likely pathogenicrs387906678GRCh37Chr 10, 123274777: 123274777

Expression for genes affiliated with Bent Bone Dysplasia Syndrome

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

Pathways for genes affiliated with Bent Bone Dysplasia Syndrome

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GO Terms for genes affiliated with Bent Bone Dysplasia Syndrome

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1MAPK cascadeGO:00001659.8ERBB2, FGFR2
2peptidyl-tyrosine phosphorylationGO:00181089.8ERBB2, FGFR2
3phosphatidylinositol phosphorylationGO:00468549.8ERBB2, FGFR2
4phosphatidylinositol-mediated signalingGO:00480159.8ERBB2, FGFR2
5positive regulation of epithelial cell proliferationGO:00506799.8ERBB2, FGFR2
6protein autophosphorylationGO:00467779.7ERBB2, FGFR2
7regulation of ERK1 and ERK2 cascadeGO:00703729.7ERBB2, FGFR2
8regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6ERBB2, FGFR2
9wound healingGO:00420609.1ERBB2, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:00001669.8ERBB2, FGFR2
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.8ERBB2, FGFR2
3protein kinase activityGO:00046729.8ERBB2, FGFR2
4protein tyrosine kinase activityGO:00047139.7ERBB2, FGFR2
5Ras guanyl-nucleotide exchange factor activityGO:00050889.6ERBB2, FGFR2
6transmembrane receptor protein tyrosine kinase activityGO:00047149.1ERBB2, FGFR2

Sources for Bent Bone Dysplasia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet