MCID: SPN189
MIFTS: 13

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Spondyloepiphyseal Dysplasia, Kimberley Type and has symptoms including epiphyseal anomaly, osteoarthritis and autosomal dominant inheritance. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (aggrecan). Affiliated tissues include bone.

Description from OMIM:48 608361

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepiphyseal dysplasia, kimberley type 48 50


External Ids:

OMIM48 608361
ICD10 via Orphanet27 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Symptoms for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

608361

Clinical features from OMIM:

608361

Symptoms:

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

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Spondyloepiphyseal Dysplasia, Kimberley Type

Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia, Kimberley Type

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia, Kimberley Type

Search CenterWatch for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
34MalaCards
See all sources

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

34
Bone

Animal Models for Spondyloepiphyseal Dysplasia, Kimberley Type or affiliated genes

About this section

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACANNM_013227.3(ACAN): c.3758dupC (p.Gly1254Trpfs)duplicationPathogenicrs387906534GRCh37Chr 15, 89399574: 89399575

Expression for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

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

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Products for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet