MCID: SPN189
MIFTS: 13

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

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Sources:
46OMIM, 9diseasecard, 48Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Spondyloepiphyseal Dysplasia, Kimberley Type:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 46 9 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 608361
Orphanet48 93283
ICD10 via Orphanet26 Q77.7

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

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MalaCards based summary: Spondyloepiphyseal Dysplasia, Kimberley Type and has symptoms including skeletal dysplasia, osteoarthritis and micromelia. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (aggrecan). Affiliated tissues include bone.

Description from OMIM:46 608361

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:

31
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:

5
id Gene Variation 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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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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Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet