MCID: BNT003
MIFTS: 37

Bent Bone Dysplasia Syndrome 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 50 46 23 68 25 12 66
Bbds 23 68
Perinatal Lethal Bent Bone Dysplasia 52
 
Fgfr2-Related Bent Bone Dysplasia 52
Bent Bone Dysplasia -Fgfr2 Type 46

Characteristics:

Orphanet epidemiological data:

52
perinatal lethal bent bone dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
bent bone dysplasia syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614592
Orphanet52 ORPHA313855
MedGen35 C3281247
MeSH37 D001848

Summaries for Bent Bone Dysplasia Syndrome

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NIH Rare Diseases:46 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 tuberculosis and miliary tuberculosis, and has symptoms including hepatosplenomegaly, clitoral hypertrophy and gingival overgrowth. 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 Glioma. Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:68 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:50 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 for Bent Bone Dysplasia Syndrome

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Symptoms by clinical synopsis from OMIM:

614592

Clinical features from OMIM:

614592

Symptoms:

 52 (show all 27)
  • clitoromegaly
  • gingival overgrowth
  • hypertelorism
  • micrognathia
  • abnormality of the outer ear
  • low-set ears
  • megalocornea
  • natal tooth
  • short clavicles
  • osteopenia
  • hirsutism
  • brachydactyly syndrome
  • hepatosplenomegaly
  • bell-shaped thorax
  • extramedullary hematopoiesis
  • coronal craniosynostosis
  • abnormality of the lower limb
  • bowing of the legs
  • hypoplastic ischia
  • overfolding of the superior helices
  • decreased calvarial ossification
  • congenital stationary night blindness
  • steep acetabular roof
  • metopic depression
  • midface retrusion
  • incomplete ossification of pubis
  • abnormality of the periosteum

HPO human phenotypes related to Bent Bone Dysplasia Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 hepatosplenomegaly rare (5%) HP:0001433
2 clitoral hypertrophy HP:0000057
3 gingival overgrowth HP:0000212
4 malar flattening HP:0000272
5 hypertelorism HP:0000316
6 micrognathia HP:0000347
7 low-set ears HP:0000369
8 short clavicles HP:0000894
9 hirsutism HP:0001007
10 brachydactyly syndrome HP:0001156
11 bell-shaped thorax HP:0001591
12 coronal craniosynostosis HP:0004440
13 midface retrusion HP:0011800

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 Syndrome25 23 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

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MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

34
Bone, Eye

Animal Models for Bent Bone Dysplasia Syndrome or affiliated genes

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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:

68
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)single nucleotide variantPathogenicrs387906677GRCh37Chr 10, 123274746: 123274746
2FGFR2NM_000141.4(FGFR2): c.1141T> G (p.Tyr381Asp)single nucleotide variantLikely pathogenic, 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
1phosphatidylinositol phosphorylationGO:00468549.7ERBB2, FGFR2
2regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6ERBB2, FGFR2
3phosphatidylinositol-mediated signalingGO:00480159.6ERBB2, FGFR2
4regulation of ERK1 and ERK2 cascadeGO:00703729.6ERBB2, FGFR2
5protein autophosphorylationGO:00467779.5ERBB2, FGFR2
6peptidyl-tyrosine phosphorylationGO:00181089.5ERBB2, FGFR2
7MAPK cascadeGO:00001659.4ERBB2, FGFR2
8positive regulation of epithelial cell proliferationGO:00506799.3ERBB2, FGFR2
9positive regulation of GTPase activityGO:00435479.1ERBB2, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.4ERBB2, FGFR2
2Ras guanyl-nucleotide exchange factor activityGO:00050889.1ERBB2, FGFR2
3protein tyrosine kinase activityGO:00047138.8ERBB2, FGFR2

Sources for Bent Bone Dysplasia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet