SEDK
MCID: SPN189
MIFTS: 16

Spondyloepiphyseal Dysplasia, Kimberley Type (SEDK) malady

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

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Aliases & Descriptions for Spondyloepiphyseal Dysplasia, Kimberley Type:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 52 24 54 12 68
Spondyloepiphyseal Dysplasia Type Kimberley 70 27
 
Sedk 70

Characteristics:

Orphanet epidemiological data:

54
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 608361
Orphanet54 ORPHA93283
ICD10 via Orphanet31 Q77.7
MedGen37 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM:52 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

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Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kimberley Type

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Symptoms by clinical synopsis from OMIM:

608361

Clinical features from OMIM:

608361

Human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly64 54 Very frequent (99-80%) HP:0000926
2 spondyloepiphyseal dysplasia64 54 Very frequent (99-80%) HP:0002655
3 osteoarthritis64 54 Very frequent (99-80%) HP:0002758
4 micromelia64 54 Very frequent (99-80%) HP:0002983
5 proportionate short stature64 54 Very frequent (99-80%) HP:0003508
6 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
7 short thorax64 54 Very frequent (99-80%) HP:0010306
8 delayed skeletal maturation64 HP:0002750
9 genu valgum64 HP:0002857
10 genu varum64 HP:0002970
11 flat capital femoral epiphysis64 HP:0003370

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

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Interventional clinical trials:

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

Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

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Genetic tests related to Spondyloepiphyseal Dysplasia, Kimberley Type:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Kimberley Type27 24 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

36
Bone

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

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Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

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Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACANNM_ 013227.3(ACAN): c.3758dupC (p.Gly1254Trpfs)duplicationPathogenicrs387906534GRCh37Chr 15, 89399574: 89399574

Expression for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

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

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

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GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

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Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet