MCID: SPN189
MIFTS: 18

Spondyloepiphyseal Dysplasia, Kimberley Type

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Kimberley Type:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 53 55 36 28 13 69
Sedk 53 71
Spondyloepiphyseal Dysplasia Type Kimberley 71

Characteristics:

Orphanet epidemiological data:

55
spondyloepiphyseal dysplasia, kimberley type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia, kimberley type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 608361
Orphanet 55 ORPHA93283
UMLS via Orphanet 70 C1842149
ICD10 via Orphanet 33 Q77.7
MedGen 39 C1842149
KEGG 36 H00765
UMLS 69 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

UniProtKB/Swiss-Prot : 71 Spondyloepiphyseal dysplasia type Kimberley: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.

MalaCards based summary : Spondyloepiphyseal Dysplasia, Kimberley Type, is also known as sedk, and has symptoms including osteoarthritis, abnormality of epiphysis morphology and platyspondyly. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone.

Description from OMIM: 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
platyspondyly
anterior osteophytes
vertebral end plate irregularity
sclerotic vertebral bodies

Skeletal Limbs:
genu valga
genu vara
progressive osteoarthropathy (early-onset)

Growth Other:
stocky body habitus

Skeletal:
spondyloepiphyseal dysplasia
delayed bone age

Growth Height:
short stature, proportionate (<5th percentile)

Skeletal Pelvis:
flat femoral capital epiphyses


Clinical features from OMIM:

608361

Human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002758
2 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
6 proportionate short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003508
7 spondyloepiphyseal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002655
8 genu valgum 31 HP:0002857
9 delayed skeletal maturation 31 HP:0002750
10 genu varum 31 HP:0002970
11 flat capital femoral epiphysis 31 HP:0003370

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Kimberley Type

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic Tests for Spondyloepiphyseal Dysplasia, Kimberley Type

Genetic tests related to Spondyloepiphyseal Dysplasia, Kimberley Type:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Kimberley Type 28 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

38
Bone

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAN NM_013227.3(ACAN): c.3758dupC (p.Gly1254Trpfs) duplication Pathogenic rs387906534 GRCh37 Chromosome 15, 89399574: 89399574

Expression for Spondyloepiphyseal Dysplasia, Kimberley Type

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Kimberley Type.

Pathways for Spondyloepiphyseal Dysplasia, Kimberley Type

GO Terms for Spondyloepiphyseal Dysplasia, Kimberley Type

Sources for Spondyloepiphyseal Dysplasia, Kimberley Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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