MCID: SPN189
MIFTS: 13

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Bone diseases, Fetal diseases categories

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Spondyloepiphyseal Dysplasia, Kimberley Type and has symptoms including short rib cage/thorax, abnormal vertebral size/shape and short limbs/micromelia/brachymelia. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (aggrecan). Affiliated tissues include bone.

Description from OMIM:46 608361

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepiphyseal dysplasia, kimberley type 46 48


External Ids:

OMIM46 608361
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Clinical Features for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

608361

Clinical synopsis from OMIM:

608361

Symptoms:

48 (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

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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:
32MalaCards
See all sources

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

32
Bone

Animal Models for Spondyloepiphyseal Dysplasia, Kimberley Type or affiliated genes

About this section

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Genetic Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Expression for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
1BioGPS, 15Gene 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
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet