MCID: BNT003
MIFTS: 35

Bent Bone Dysplasia Syndrome malady

Genetic diseases, Rare diseases, Bone diseases categories

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 24 65 67
Bbds 22 67
 
Bent Bone Dysplasia -Fgfr2 Type 45


Classifications:



External Ids:

OMIM49 614592
MedGen34 C3281247
MeSH36 D001848

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 drug psychosis and opioid abuse, and has symptoms including hepatosplenomegaly, autosomal dominant inheritance and clitoromegaly. 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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Diseases related to Bent Bone Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1drug psychosis10.3
2opioid abuse10.3
3opiate dependence10.3
4substance abuse10.3
5blood protein disease10.1
6thrombocytopenic purpura, autoimmune10.0
7peters anomaly10.0
8anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0
9glucocorticoid therapy, response to10.0
10osteogenesis imperfecta, type v10.0
11dental anomalies and short stature10.0
12multiple myeloma10.0
13osteogenesis imperfecta, type x10.0
14mucopolysaccharidosis iva10.0
15osteogenesis imperfecta, type i10.0
16spinal and bulbar muscular atrophy of kennedy10.0
17peripheral vascular disease10.0
18bone fracture10.0
19dentinogenesis imperfecta10.0
20hematologic cancer10.0
21mucopolysaccharidosis iv10.0
22skin disease10.0
23osteogenesis imperfecta10.0
24thrombocytopenia due to platelet alloimmunization10.0
25sensorineural hearing loss10.0
26spastic diplegia10.0
27miliary tuberculosis10.0
28central nervous system hematologic cancer10.0
29secondary syphilis10.0
30autonomic nervous system disease10.0
31autonomic nervous system neoplasm10.0
32bone development disease10.0
33bone structure disease10.0
34central nervous system cancer10.0
35collagen disease10.0
36connective tissue disease10.0
37hermaphroditism10.0
38hypersensitivity reaction type iv disease10.0
39mouth disease10.0
40myeloma10.0
41nervous system cancer10.0
42osteochondrodysplasia10.0
43peripheral nervous system neoplasm10.0
44plasma cell neoplasm10.0
45scoliosis10.0
46tooth disease10.0
47tuberculosis10.0
48vascular cancer10.0
49vascular hemostatic disease10.0
50factor v leiden thrombophilia10.0

Graphical network of the top 20 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 14)
id Description Frequency HPO Source Accession
1 hepatosplenomegaly rare (5%) HP:0001433
2 autosomal dominant inheritance HP:0000006
3 clitoromegaly HP:0000057
4 gingival overgrowth HP:0000212
5 malar flattening HP:0000272
6 hypertelorism HP:0000316
7 micrognathia HP:0000347
8 low-set ears HP:0000369
9 short clavicles HP:0000894
10 hirsutism HP:0001007
11 brachydactyly syndrome HP:0001156
12 bell-shaped thorax HP:0001591
13 coronal craniosynostosis HP:0004440
14 hypoplasia of midface 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 24 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
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:

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ERBB2, FGFR2
29.1ERBB2, FGFR2
3
Show member pathways
9.1ERBB2, FGFR2
49.1ERBB2, FGFR2
59.1ERBB2, FGFR2
69.1ERBB2, FGFR2
79.1ERBB2, FGFR2

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 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell proliferationGO:00506799.7ERBB2, FGFR2
2positive regulation of MAPK cascadeGO:00434109.7ERBB2, FGFR2
3phosphatidylinositol-mediated signalingGO:00480159.6ERBB2, FGFR2
4regulation of ERK1 and ERK2 cascadeGO:00703729.6ERBB2, FGFR2
5protein autophosphorylationGO:00467779.6ERBB2, FGFR2
6positive regulation of cell proliferationGO:00082849.6ERBB2, FGFR2
7peptidyl-tyrosine phosphorylationGO:00181089.5ERBB2, FGFR2
8MAPK cascadeGO:00001659.5ERBB2, FGFR2
9activation of MAPKK activityGO:00001869.4ERBB2, FGFR2
10Ras protein signal transductionGO:00072659.4ERBB2, FGFR2
11insulin receptor signaling pathwayGO:00082869.4ERBB2, FGFR2
12fibroblast growth factor receptor signaling pathwayGO:00085439.4ERBB2, FGFR2
13Fc-epsilon receptor signaling pathwayGO:00380959.4ERBB2, FGFR2
14neurotrophin TRK receptor signaling pathwayGO:00480119.3ERBB2, FGFR2
15neuromuscular junction developmentGO:00075289.1ERBB2, FGFR2
16vascular endothelial growth factor receptor signaling pathwayGO:00480109.1ERBB2, FGFR2
17epidermal growth factor receptor signaling pathwayGO:00071739.0ERBB2, FGFR2
18axon guidanceGO:00074118.8ERBB2, 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
2protein kinase activityGO:00046728.8ERBB2, 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