MCID: BNT003
MIFTS: 34

Bent Bone Dysplasia Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Bent Bone Dysplasia Syndrome

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Aliases & Descriptions for Bent Bone Dysplasia Syndrome:

Name: Bent Bone Dysplasia Syndrome 49 11 45 22 67 24 65
Bbds 22 67
 
Bent Bone Dysplasia -Fgfr2 Type 45

Characteristics:

HPO:

61
bent bone dysplasia syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 614592
MedGen34 C3281247
MeSH36 D001848
UMLS65 C3281247

Summaries for Bent Bone Dysplasia Syndrome

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NIH Rare Diseases:45 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 basal cell carcinoma and gyrate atrophy of choroid and retina with or without ornithinemia, 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 Glioma and Pathways in cancer. Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:67 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:49 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

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 Syndrome22 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

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MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

33
Bone, Eye

Animal Models for Bent Bone Dysplasia Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bent Bone Dysplasia Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Bent Bone Dysplasia Syndrome

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Articles related to Bent Bone Dysplasia Syndrome:

idTitleAuthorsYear
1
CYP1B1 is not a major determinant of the disposition of aromatase inhibitors in epithelial cells of invasive ductal carcinoma. (18256205)
2008

Variations for Bent Bone Dysplasia Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1FGFR2p.Tyr381AspVAR_067977
2FGFR2p.Met391ArgVAR_067978

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
1regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6ERBB2, FGFR2
2phosphatidylinositol-mediated signalingGO:00480159.6ERBB2, FGFR2
3protein autophosphorylationGO:00467779.5ERBB2, FGFR2
4fibroblast growth factor receptor signaling pathwayGO:00085439.5ERBB2, FGFR2
5regulation of ERK1 and ERK2 cascadeGO:00703729.2ERBB2, FGFR2
6positive regulation of GTPase activityGO:00435479.1ERBB2, FGFR2
7axon guidanceGO:00074119.1ERBB2, FGFR2
8activation of MAPKK activityGO:00001869.0ERBB2, FGFR2
9insulin receptor signaling pathwayGO:00082868.8ERBB2, FGFR2

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:00047139.1ERBB2, FGFR2

Sources for Bent Bone Dysplasia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet