MCID: SPN189
MIFTS: 14

Spondyloepiphyseal Dysplasia, Kimberley Type malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section


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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
Sources:
46OMIM, 48Orphanet, 27ICD10 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 Orphanet27 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Symptoms for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

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

About this section

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

About this section

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

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

Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section

Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

7
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

About this section
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
  • Proteins
  • Kits and Assays

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet