MCID: BNT003
MIFTS: 13

Bent Bone Dysplasia Syndrome malady

Bone, Fetal categories

Summaries for Bent Bone Dysplasia Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Bent bone dysplasia syndrome is a 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: 11/7/2012

MalaCards: Bent Bone Dysplasia Syndrome, is also known as perinatal lethal bent bone dysplasia An important gene associated with Bent Bone Dysplasia Syndrome is FGFR2 (fibroblast growth factor receptor 2).

Description from OMIM:47 614592

Aliases & Classifications for Bent Bone Dysplasia Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
perinatal lethal bent bone dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bent bone dysplasia syndrome 43 22 47
perinatal lethal bent bone dysplasia 49
fgfr2-related bent bone dysplasia 49
bent bone dysplasia -fgfr2 type 43


External Ids:

OMIM47 614592

Related Diseases for Bent Bone Dysplasia Syndrome

Clinical Features for Bent Bone Dysplasia Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

614592

Clinical synopsis from OMIM:

614592

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bent Bone Dysplasia Syndrome

Drug clinical trials:

Search ClinicalTrials for Bent Bone Dysplasia Syndrome

Search NIH Clinical Center for Bent Bone Dysplasia Syndrome

Search CenterWatch for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

Sources:
22GTR
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Genetic tests related to Bent Bone Dysplasia Syndrome:

id Genetic test Affiliating Genes
1 Bent Bone Dysplasia Syndrome22

Anatomical Context for Bent Bone Dysplasia Syndrome

Animal Models for Bent Bone Dysplasia Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Bent Bone Dysplasia Syndrome

Sources:
51PubMed
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Articles related to Bent Bone Dysplasia Syndrome:

idTitleAuthorsYear
1
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. (23808569)
2013
2
StA1ve-Wiedemann syndrome and related bent bone dysplasias. (22300393)
2012

Genetic Variations for Bent Bone Dysplasia Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Bent Bone Dysplasia Syndrome:

63
id Symbol AA change Variation SNP ID
1FGFR2p.Tyr381AspVAR_067977
2FGFR2p.Met391ArgVAR_067978

Expression for genes affiliated with Bent Bone Dysplasia Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bent Bone Dysplasia Syndrome

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

Pathways for genes affiliated with Bent Bone Dysplasia Syndrome

Compounds for genes affiliated with Bent Bone Dysplasia Syndrome

GO Terms for genes affiliated with Bent Bone Dysplasia Syndrome

Products for genes affiliated with Bent Bone Dysplasia Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bent Bone Dysplasia Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet