MCID: DYS134
MIFTS: 18

Dysspondyloenchondromatosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysspondyloenchondromatosis

MalaCards integrated aliases for Dysspondyloenchondromatosis:

Name: Dysspondyloenchondromatosis 58

Characteristics:

Orphanet epidemiological data:

58
dysspondyloenchondromatosis
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Dysspondyloenchondromatosis

MalaCards based summary : Dysspondyloenchondromatosis is related to chondroma and enchondroma. An important gene associated with Dysspondyloenchondromatosis is COL2A1 (Collagen Type II Alpha 1 Chain). Related phenotypes are short stature and kyphoscoliosis

Related Diseases for Dysspondyloenchondromatosis

Diseases related to Dysspondyloenchondromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondroma 10.2
2 enchondroma 10.2
3 scoliosis 10.1
4 spondyloepimetaphyseal dysplasia 10.0
5 spondyloepimetaphyseal dysplasia, strudwick type 9.9
6 multiple enchondromatosis, maffucci type 9.9
7 lymphangioma 9.9
8 dwarfism 9.9
9 rare lymphatic malformation 9.9

Graphical network of the top 20 diseases related to Dysspondyloenchondromatosis:



Diseases related to Dysspondyloenchondromatosis

Symptoms & Phenotypes for Dysspondyloenchondromatosis

Human phenotypes related to Dysspondyloenchondromatosis:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
3 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
4 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
5 lower limb asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0100559
6 multiple enchondromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005701
7 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
8 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
9 enlarged joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0003037
10 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
11 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
12 pretibial blistering 58 31 hallmark (90%) Very frequent (99-80%) HP:0012221
13 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
14 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
15 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
16 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
17 abnormality of fibula morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002991
18 abnormality of ulnar metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0004039
19 anisospondyly 58 31 frequent (33%) Frequent (79-30%) HP:0002879
20 metaphyseal enchondromatosis 58 31 frequent (33%) Frequent (79-30%) HP:0005868
21 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
22 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
23 scoliosis 58 Very frequent (99-80%)

Drugs & Therapeutics for Dysspondyloenchondromatosis

Search Clinical Trials , NIH Clinical Center for Dysspondyloenchondromatosis

Genetic Tests for Dysspondyloenchondromatosis

Anatomical Context for Dysspondyloenchondromatosis

Publications for Dysspondyloenchondromatosis

Articles related to Dysspondyloenchondromatosis:

# Title Authors PMID Year
1
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1. 61
29928178 2018
2
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
3
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity. 61
24357493 2014
4
Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis. 61
23555318 2013
5
Enchondromatosis revisited: new classification with molecular basis. 61
22791316 2012
6
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? 61
22570642 2011
7
Enchondromatosis: insights on the different subtypes. 61
20661403 2010
8
Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome. 61
9546836 1998
9
Dysspondyloenchondromatosis in the newborn. Report of four cases. 61
7824359 1994

Variations for Dysspondyloenchondromatosis

Expression for Dysspondyloenchondromatosis

Search GEO for disease gene expression data for Dysspondyloenchondromatosis.

Pathways for Dysspondyloenchondromatosis

GO Terms for Dysspondyloenchondromatosis

Sources for Dysspondyloenchondromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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