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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NIH Rare Diseases:42 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, is also known as perinatal lethal bent bone dysplasia and has symptoms including 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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Bent Bone Dysplasia Syndrome, Aliases & Descriptions:

Name: Bent Bone Dysplasia Syndrome 42 22 46 62
Perinatal Lethal Bent Bone Dysplasia 48
 
Fgfr2-Related Bent Bone Dysplasia 48
Bent Bone Dysplasia -Fgfr2 Type 42


Classifications:

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


External Ids:

OMIM46 614592

Related Diseases for Bent Bone Dysplasia Syndrome

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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 13)
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 bell-shaped thorax HP:0001591
12 coronal craniosynostosis HP:0004440
13 midface retrusion HP:0011800

Drugs & Therapeutics for Bent Bone Dysplasia Syndrome

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Drug clinical trials:

Search ClinicalTrials for Bent Bone Dysplasia Syndrome

Search 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

Anatomical Context for Bent Bone Dysplasia Syndrome

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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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Variations for Bent Bone Dysplasia Syndrome

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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet