MCID: BNT003
MIFTS: 20

Bent Bone Dysplasia Syndrome malady

Bone diseases, Fetal diseases categories

Summaries for Bent Bone Dysplasia Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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). Affiliated tissues include bone and eye.

Description from OMIM:46 614592

Aliases & Classifications for Bent Bone Dysplasia Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
perinatal lethal bent bone dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bent bone dysplasia syndrome 42 22 46
perinatal lethal bent bone dysplasia 48
fgfr2-related bent bone dysplasia 48
bent bone dysplasia -fgfr2 type 42


External Ids:

OMIM46 614592

Related Diseases for Bent Bone Dysplasia Syndrome

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Clinical Features for Bent Bone Dysplasia Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

614592

Clinical synopsis from OMIM:

614592

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bent Bone Dysplasia Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Bent Bone Dysplasia Syndrome

Search CenterWatch for Bent Bone Dysplasia Syndrome

Genetic Tests for Bent Bone Dysplasia Syndrome

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Bent Bone Dysplasia Syndrome:

32
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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Genetic Variations for Bent Bone Dysplasia Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Bent Bone Dysplasia Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGFR2p.Tyr381AspVAR_067977
2FGFR2p.Met391ArgVAR_067978

Expression for genes affiliated with Bent Bone Dysplasia Syndrome

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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

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Compounds 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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Products for genes affiliated with Bent Bone Dysplasia Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bent Bone Dysplasia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet