SEDK
MCID: SPN189
MIFTS: 22

Spondyloepiphyseal Dysplasia, Kimberley Type (SEDK)

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Kimberley Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Kimberley Type:

Name: Spondyloepiphyseal Dysplasia, Kimberley Type 56 58 36 29 13 6 71
Sedk 56 73
Dysplasia, Spondyloepiphyseal, Kimberley Type 39
Spondyloepiphyseal Dysplasia Type Kimberley 73

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, kimberley type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spondyloepiphyseal dysplasia, kimberley type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 608361
KEGG 36 H00765
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C1842149
Orphanet 58 ORPHA93283
MedGen 41 C1842149
UMLS 71 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

KEGG : 36 Spondyloepiphyseal dysplasia Kimberley type is a mild form of spondyloepiphyseal dysplasia (SED) with early-onset arthropathy. The phenotype of the disease is short stature and stocky build due to flattened vertebral bodies. Aggrecan, the protein of the proteoglycan of cartilage, is linked to the disease.

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

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kimberley Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
6 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
7 spondyloepiphyseal dysplasia 58 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

Symptoms via clinical synopsis from OMIM:

56
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

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 29 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

40
Bone

Publications for Spondyloepiphyseal Dysplasia, Kimberley Type

Articles related to Spondyloepiphyseal Dysplasia, Kimberley Type:

# Title Authors PMID Year
1
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 61 56 6
16080123 2005
2
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 56
12205105 2002
3
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. 56
1978986 1990
4
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 61
29464738 2018
5
Novel pathogenic ACAN variants in non-syndromic short stature patients. 61
28396070 2017

Variations for Spondyloepiphyseal Dysplasia, Kimberley Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Kimberley Type:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACAN NM_001369268.1(ACAN):c.3758dup (p.Gly1254fs)duplication Pathogenic 14304 rs387906534 15:89399570-89399571 15:88856339-88856340
2 ACAN NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)SNV Uncertain significance 444004 rs1555454545 15:89388877-89388877 15:88845646-88845646

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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