MCID: BNT003
MIFTS: 36

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 51 47 24 69 26 12 67
Bbds 24 69
Perinatal Lethal Bent Bone Dysplasia 53
 
Fgfr2-Related Bent Bone Dysplasia 53
Bent Bone Dysplasia -Fgfr2 Type 47

Characteristics:

Orphanet epidemiological data:

53
perinatal lethal bent bone dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
bent bone dysplasia syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 614592
Orphanet53 ORPHA313855
MedGen36 C3281247
MeSH38 D001848

Summaries for Bent Bone Dysplasia Syndrome

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NIH Rare Diseases:47 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 Glioma and Pathways in cancer. Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Bent Bone Dysplasia Syndrome:

 63 53 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatosplenomegaly63 53 rare (5%) Occasional (29-5%) HP:0001433
2 clitoral hypertrophy63 HP:0000057
3 gingival overgrowth63 53 Very frequent (99-80%) HP:0000212
4 malar flattening63 HP:0000272
5 hypertelorism63 53 Very frequent (99-80%) HP:0000316
6 micrognathia63 53 Very frequent (99-80%) HP:0000347
7 low-set ears63 53 Very frequent (99-80%) HP:0000369
8 short clavicles63 53 Very frequent (99-80%) HP:0000894
9 hirsutism63 53 Very frequent (99-80%) HP:0001007
10 brachydactyly syndrome63 53 Very frequent (99-80%) HP:0001156
11 bell-shaped thorax63 53 Very frequent (99-80%) HP:0001591
12 coronal craniosynostosis63 53 Very frequent (99-80%) HP:0004440
13 midface retrusion63 53 Very frequent (99-80%) HP:0011800
14 clitoromegaly53 Very frequent (99-80%)
15 abnormality of the outer ear53 Very frequent (99-80%)
16 megalocornea53 Very frequent (99-80%)
17 natal tooth53 Very frequent (99-80%)
18 osteopenia53 Very frequent (99-80%)
19 extramedullary hematopoiesis53 Very frequent (99-80%)
20 abnormality of the lower limb53 Occasional (29-5%)
21 bowing of the legs53 Occasional (29-5%)
22 hypoplastic ischia53 Very frequent (99-80%)
23 overfolding of the superior helices53 Very frequent (99-80%)
24 decreased calvarial ossification53 Very frequent (99-80%)
25 congenital stationary night blindness53 Very frequent (99-80%)
26 steep acetabular roof53 Very frequent (99-80%)
27 metopic depression53 Very frequent (99-80%)
28 incomplete ossification of pubis53 Very frequent (99-80%)
29 abnormality of the periosteum53 Very frequent (99-80%)

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 Syndrome26 24 FGFR2

Anatomical Context for Bent Bone Dysplasia Syndrome

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MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

35
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:

69
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)SNVLikely 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:00468549.6ERBB2, 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
5peptidyl-tyrosine phosphorylationGO:00181089.5ERBB2, FGFR2
6protein autophosphorylationGO:00467779.5ERBB2, FGFR2
7positive regulation of epithelial cell proliferationGO:00506799.5ERBB2, FGFR2
8positive regulation of GTPase activityGO:00435479.1ERBB2, FGFR2
9MAPK cascadeGO:00001659.0ERBB2, 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:00469349.5ERBB2, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet