SEDK
MCID: SPN189
MIFTS: 17

Spondyloepiphyseal Dysplasia, Kimberley Type (SEDK) malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

Aliases & Descriptions for Spondyloepiphyseal Dysplasia, Kimberley Type:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 54 24 56 13 69
Spondyloepiphyseal Dysplasia Type Kimberley 66 29
Sedk 66

Characteristics:

Orphanet epidemiological data:

56
spondyloepiphyseal dysplasia, kimberley type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
spondyloepiphyseal dysplasia, kimberley type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608361
Orphanet 56 ORPHA93283
ICD10 via Orphanet 34 Q77.7
MedGen 40 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

UniProtKB/Swiss-Prot : 66 Spondyloepiphyseal dysplasia type Kimberley: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.

MalaCards based summary : Spondyloepiphyseal Dysplasia, Kimberley Type, is also known as spondyloepiphyseal dysplasia type kimberley, and has symptoms including osteoarthritis, abnormality of epiphysis morphology and platyspondyly. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM: 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms by clinical synopsis from OMIM:

608361

Clinical features from OMIM:

608361

Human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 56 32 Very frequent (99-80%) HP:0002758
2 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
3 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
4 micromelia 56 32 Very frequent (99-80%) HP:0002983
5 short thorax 56 32 Very frequent (99-80%) HP:0010306
6 proportionate short stature 56 32 Very frequent (99-80%) HP:0003508
7 spondyloepiphyseal dysplasia 56 32 Very frequent (99-80%) HP:0002655
8 genu valgum 32 HP:0002857
9 delayed skeletal maturation 32 HP:0002750
10 genu varum 32 HP:0002970
11 flat capital femoral epiphysis 32 HP:0003370

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic tests related to Spondyloepiphyseal Dysplasia, Kimberley Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Kimberley Type 29 24 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Kimberley Type:

39
Bone

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.3758dupC (p.Gly1254Trpfs) duplication Pathogenic rs387906534 GRCh37 Chromosome 15, 89399574: 89399574

Expression for Spondyloepiphyseal Dysplasia, Kimberley Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Kimberley Type.

Pathways for Spondyloepiphyseal Dysplasia, Kimberley Type

GO Terms for Spondyloepiphyseal Dysplasia, Kimberley Type

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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