MCID: SPN189
MIFTS: 18

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 49 11 22 51 65
Spondyloepiphyseal Dysplasia Type Kimberley 67 24
 
Sedk 67

Characteristics:

Orphanet epidemiological data:

51
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 608361
Orphanet51 93283
ICD10 via Orphanet28 Q77.7
MedGen34 C1842149
UMLS65 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

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UniProtKB/Swiss-Prot:67 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:49 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

Symptoms:

 51 (show all 8)
  • short rib cage/thorax
  • abnormal vertebral size/shape
  • short limbs/micromelia/brachymelia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • epiphyseal anomaly
  • osteoarthritis
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

(show all 14)
id Description Frequency HPO Source Accession
1 skeletal dysplasia hallmark (90%) HP:0002652
2 osteoarthritis hallmark (90%) HP:0002758
3 micromelia hallmark (90%) HP:0002983
4 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
5 short stature hallmark (90%) HP:0004322
6 abnormality of epiphysis morphology hallmark (90%) HP:0005930
7 short thorax hallmark (90%) HP:0010306
8 platyspondyly HP:0000926
9 spondyloepiphyseal dysplasia HP:0002655
10 delayed skeletal maturation HP:0002750
11 genu valgum HP:0002857
12 genu varum HP:0002970
13 flat capital femoral epiphysis HP:0003370
14 proportionate short stature 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 Type22 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet