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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MalaCards based summary: 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

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

Spondyloepiphyseal Dysplasia, Kimberley Type, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 46 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 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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Symptoms by clinical synopsis from OMIM:

608361

Clinical features 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

HPO human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

(show all 15)
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 the epiphyses hallmark (90%) HP:0005930
7 short thorax hallmark (90%) HP:0010306
8 autosomal dominant inheritance HP:0000006
9 platyspondyly HP:0000926
10 spondyloepiphyseal dysplasia HP:0002655
11 delayed skeletal maturation HP:0002750
12 genu valgum HP:0002857
13 genu varum HP:0002970
14 flat capital femoral epiphysis HP:0003370
15 proportionate short stature HP:0003508

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

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

32
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:

6
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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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

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet