MCID: SPN189
MIFTS: 16

Spondyloepiphyseal Dysplasia, Kimberley Type 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 51 24 53 12 67
Spondyloepiphyseal Dysplasia Type Kimberley 69 26
 
Sedk 69

Characteristics:

Orphanet epidemiological data:

53
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 608361
Orphanet53 ORPHA93283
ICD10 via Orphanet30 Q77.7
MedGen36 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

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UniProtKB/Swiss-Prot:69 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 skeletal dysplasia, osteoarthritis and micromelia. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM:51 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

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Symptoms 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:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia63 hallmark (90%) HP:0002652
2 osteoarthritis63 53 hallmark (90%) Very frequent (99-80%) HP:0002758
3 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
4 abnormal form of the vertebral bodies63 hallmark (90%) HP:0003312
5 short stature63 hallmark (90%) HP:0004322
6 abnormality of epiphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0005930
7 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
8 platyspondyly63 53 Very frequent (99-80%) HP:0000926
9 spondyloepiphyseal dysplasia63 53 Very frequent (99-80%) HP:0002655
10 delayed skeletal maturation63 HP:0002750
11 genu valgum63 HP:0002857
12 genu varum63 HP:0002970
13 flat capital femoral epiphysis63 HP:0003370
14 proportionate short stature63 53 Very frequent (99-80%) HP:0003508

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 Type26 24 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

35
Bone

Animal Models for Spondyloepiphyseal Dysplasia, Kimberley Type or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet