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 57 59 37 29 13 6 40 73
Sedk 57 75
Spondyloepiphyseal Dysplasia Type Kimberley 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepiphyseal dysplasia, kimberley type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spondyloepiphyseal dysplasia, kimberley type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608361
Orphanet 59 ORPHA93283
UMLS via Orphanet 74 C1842149
ICD10 via Orphanet 34 Q77.7
MedGen 42 C1842149
KEGG 37 H00765
UMLS 73 C1842149

Summaries for Spondyloepiphyseal Dysplasia, Kimberley Type

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are platyspondyly and spondyloepiphyseal dysplasia

Description from OMIM: 608361

Related Diseases for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Kimberley Type

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
2 spondyloepiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002655
3 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
4 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
5 proportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003508
6 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
7 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
8 delayed skeletal maturation 32 HP:0002750
9 genu valgum 32 HP:0002857
10 genu varum 32 HP:0002970
11 flat capital femoral epiphysis 32 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 29 ACAN

Anatomical Context for Spondyloepiphyseal Dysplasia, Kimberley Type

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

41
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
2 ACAN NM_013227.3(ACAN): c.3758dupC (p.Gly1254Trpfs) duplication Pathogenic rs387906534 GRCh38 Chromosome 15, 88856343: 88856343
3 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 89388877: 89388877
4 ACAN NM_013227.3(ACAN): c.1193T> A (p.Ile398Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 88845646: 88845646
5 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh37 Chromosome 15, 89388840: 89388840
6 ACAN NM_013227.3(ACAN): c.1156C> T (p.Arg386Ter) single nucleotide variant Likely pathogenic rs773948197 GRCh38 Chromosome 15, 88845609: 88845609

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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