MCID: SPN189
MIFTS: 13

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

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47OMIM, 33MalaCards
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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:47 608361

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

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

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


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

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Symptoms for Spondyloepiphyseal Dysplasia, Kimberley Type

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

608361

Clinical features from OMIM:

608361

Symptoms:

49 (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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia, Kimberley Type

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

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Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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33MalaCards
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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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1 National Center for Biotechnology Information (Clinvar)
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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

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2BioGPS, 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

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Compounds 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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Products for genes affiliated with Spondyloepiphyseal Dysplasia, Kimberley Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet