MCID: CMP100
MIFTS: 16

Campomelic Dysplasia and Related Disorders

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Campomelic Dysplasia and Related Disorders

MalaCards integrated aliases for Campomelic Dysplasia and Related Disorders:

Name: Campomelic Dysplasia and Related Disorders 58
Bent Bone Dysplasia 58 5

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0432238
Orphanet 58 ORPHA93439

Summaries for Campomelic Dysplasia and Related Disorders

MalaCards based summary: Campomelic Dysplasia and Related Disorders, also known as bent bone dysplasia, is related to bent bone dysplasia syndrome 1 and bent bone dysplasia syndrome 2. An important gene associated with Campomelic Dysplasia and Related Disorders is LOC108021846 (SOX9 Promoter Region). Affiliated tissues include bone.

Related Diseases for Campomelic Dysplasia and Related Disorders

Diseases in the Campomelic Dysplasia family:

Campomelic Dysplasia and Related Disorders

Diseases related to Campomelic Dysplasia and Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 bent bone dysplasia syndrome 1 11.9
2 bent bone dysplasia syndrome 2 11.7
3 weismann-netter syndrome 11.3
4 severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome 11.1
5 craniosynostosis 10.3
6 bone disease 10.3
7 osteochondrodysplasia 10.2
8 polyhydramnios 10.2
9 crouzon syndrome 10.0
10 prenatal bowing 10.0
11 fgfr craniosynostosis syndromes 10.0
12 campomelic dysplasia 9.6 SOX9 LOC108021846
13 connective tissue disease 9.5 SOX9 LOC108021846

Graphical network of the top 20 diseases related to Campomelic Dysplasia and Related Disorders:



Diseases related to Campomelic Dysplasia and Related Disorders

Symptoms & Phenotypes for Campomelic Dysplasia and Related Disorders

Drugs & Therapeutics for Campomelic Dysplasia and Related Disorders

Search Clinical Trials, NIH Clinical Center for Campomelic Dysplasia and Related Disorders

Genetic Tests for Campomelic Dysplasia and Related Disorders

Anatomical Context for Campomelic Dysplasia and Related Disorders

Organs/tissues related to Campomelic Dysplasia and Related Disorders:

MalaCards : Bone

Publications for Campomelic Dysplasia and Related Disorders

Articles related to Campomelic Dysplasia and Related Disorders:

(show all 18)
# Title Authors PMID Year
1
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. 62
33242826 2020
2
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb. 62
30620790 2019
3
The bHLH Protein Nulp1 is Essential for Femur Development Via Acting as a Cofactor in Wnt Signaling in Drosophila. 62
29437009 2018
4
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. 62
28595297 2017
5
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. 62
29230096 2017
6
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. 62
27240702 2016
7
A new case of bent bone dysplasia--FGFR2 type and review of the literature. 62
26573129 2016
8
Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation. 62
26446305 2016
9
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome. 62
26279654 2015
10
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. 62
24908667 2014
11
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. 62
23808569 2014
12
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. 62
24618404 2014
13
The postnatal features of bent bone dysplasia-FGFR2 type. 62
24300289 2014
14
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 62
22387015 2012
15
New insights in congenital bowing of the femora. 62
15324311 2004
16
Benign form of congenital angulation of long bones associated with shortening of soft tissues. 62
9546823 1998
17
The scapula as a window to the diagnosis of skeletal dysplasias. 62
9133361 1997
18
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy. 62
8723081 1996

Variations for Campomelic Dysplasia and Related Disorders

ClinVar genetic disease variations for Campomelic Dysplasia and Related Disorders:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108021846, SOX9 NM_000346.4(SOX9):c.358C>G (p.Arg120Gly) SNV Likely Pathogenic
1342866 GRCh37: 17:70117890-70117890
GRCh38: 17:72121749-72121749

Expression for Campomelic Dysplasia and Related Disorders

Search GEO for disease gene expression data for Campomelic Dysplasia and Related Disorders.

Pathways for Campomelic Dysplasia and Related Disorders

GO Terms for Campomelic Dysplasia and Related Disorders

Sources for Campomelic Dysplasia and Related Disorders

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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