MCID: BNT003
MIFTS: 18

Bent Bone Dysplasia Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Bent Bone Dysplasia Syndrome

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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:47 614592

Aliases & Classifications for Bent Bone Dysplasia Syndrome

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

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


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

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Symptoms for Bent Bone Dysplasia Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

614592

Clinical features from OMIM:

614592

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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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33MalaCards
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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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Publications for Bent Bone Dysplasia Syndrome

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Variations for Bent Bone Dysplasia Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bent Bone Dysplasia Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR2p.Tyr381AspVAR_067977
2FGFR2p.Met391ArgVAR_067978

Clinvar genetic disease variations for Bent Bone Dysplasia Syndrome:

1
id Gene Name 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 variantPathogenicrs387906678GRCh37Chr 10, 123274777: 123274777

Expression for genes affiliated with Bent Bone Dysplasia Syndrome

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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet