MCID: DYS134
MIFTS: 21

Dysspondyloenchondromatosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysspondyloenchondromatosis

MalaCards integrated aliases for Dysspondyloenchondromatosis:

Name: Dysspondyloenchondromatosis 59

Characteristics:

Orphanet epidemiological data:

59
dysspondyloenchondromatosis
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Dysspondyloenchondromatosis

MalaCards based summary : Dysspondyloenchondromatosis is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepimetaphyseal dysplasia, matrilin-3 related. An important gene associated with Dysspondyloenchondromatosis is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include skin and bone, and related phenotypes are joint dislocation and osteoarthritis

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 spondyloepimetaphyseal dysplasia, strudwick type 9.9
2 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.9
3 multiple enchondromatosis, maffucci type 9.9
4 skeletal dysplasias 9.9

Symptoms & Phenotypes for Dysspondyloenchondromatosis

Human phenotypes related to Dysspondyloenchondromatosis:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001373
2 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
3 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
9 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
10 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
11 anisospondyly 59 32 frequent (33%) Frequent (79-30%) HP:0002879
12 multiple enchondromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005701
13 lower limb asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0100559
14 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
15 spondylometaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002657
16 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
17 abnormality of ulnar metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0004039
18 enlarged joints 59 32 hallmark (90%) Very frequent (99-80%) HP:0003037
19 generalized joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002761
20 metaphyseal enchondromatosis 59 32 frequent (33%) Frequent (79-30%) HP:0005868
21 pretibial blistering 59 32 hallmark (90%) Very frequent (99-80%) HP:0012221
22 scoliosis 59 Very frequent (99-80%)
23 abnormality of the fibula 59 Frequent (79-30%)
24 abnormality of fibula morphology 32 frequent (33%) HP:0002991

Drugs & Therapeutics for Dysspondyloenchondromatosis

Search Clinical Trials , NIH Clinical Center for Dysspondyloenchondromatosis

Genetic Tests for Dysspondyloenchondromatosis

Anatomical Context for Dysspondyloenchondromatosis

MalaCards organs/tissues related to Dysspondyloenchondromatosis:

41
Skin, Bone

Publications for Dysspondyloenchondromatosis

Articles related to Dysspondyloenchondromatosis:

# Title Authors Year
1
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in <i>COL2A1</i>. ( 29928178 )
2018
2
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). ( 26250472 )
2015
3
Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis. ( 23555318 )
2013
4
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity. ( 24357493 )
2013
5
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? ( 22570642 )
2011
6
Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome. ( 9546836 )
1998
7
Dysspondyloenchondromatosis in the newborn. Report of four cases. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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