MCID: SPN189

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Bone, Fetal categories

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

Sources:
47OMIM, 33MalaCards
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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).

Description from OMIM:47 608361

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

spondyloepiphyseal dysplasia, kimberley type 47 49


External Ids:

OMIM47 608361
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

Clinical Features for Spondyloepiphyseal Dysplasia, Kimberley Type

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

608361

Clinical synopsis from OMIM:

608361

Symptoms:

49 (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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

Animal Models for Spondyloepiphyseal Dysplasia, Kimberley Type or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

Expression for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

Products for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet