SEDSTN
MCID: SPN328
MIFTS: 27

Spondyloepiphyseal Dysplasia, Stanescu Type (SEDSTN)

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Stanescu Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Stanescu Type:

Name: Spondyloepiphyseal Dysplasia, Stanescu Type 57 58 72 29 6
Sed, Stanescu Type 57 58 72
Sedstn 57 72

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia, stanescu type
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
symptoms appear in early childhood and are progressive


HPO:

31
spondyloepiphyseal dysplasia, stanescu type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 616583
MeSH 44 D010009
ICD10 via Orphanet 33 Q77.7
Orphanet 58 ORPHA459051

Summaries for Spondyloepiphyseal Dysplasia, Stanescu Type

OMIM® : 57 Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998). (616583) (Updated 20-May-2021)

MalaCards based summary : Spondyloepiphyseal Dysplasia, Stanescu Type, also known as sed, stanescu type, is related to spondyloepiphyseal dysplasia congenita and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Spondyloepiphyseal Dysplasia, Stanescu Type is COL2A1 (Collagen Type II Alpha 1 Chain). Related phenotypes are trismus and beaking of vertebral bodies

UniProtKB/Swiss-Prot : 72 Spondyloepiphyseal dysplasia, Stanescu type: An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands.

Related Diseases for Spondyloepiphyseal Dysplasia, Stanescu Type

Diseases related to Spondyloepiphyseal Dysplasia, Stanescu Type via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 11.3
2 spondyloepiphyseal dysplasia with congenital joint dislocations 10.4
3 progressive pseudorheumatoid dysplasia 10.3
4 brachydactyly 10.3
5 cataract 9.5 COL2A1 ALDH18A1

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia, Stanescu Type:



Diseases related to Spondyloepiphyseal Dysplasia, Stanescu Type

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Stanescu Type

Human phenotypes related to Spondyloepiphyseal Dysplasia, Stanescu Type:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 trismus 31 occasional (7.5%) HP:0000211
2 beaking of vertebral bodies 31 HP:0004568
3 kyphoscoliosis 31 HP:0002751
4 arthralgia 31 HP:0002829
5 platyspondyly 31 HP:0000926
6 coxa valga 31 HP:0002673
7 hypoplastic ilia 31 HP:0000946
8 spondyloepiphyseal dysplasia 31 HP:0002655
9 stiff neck 31 HP:0025258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Limbs:
joint stiffness
joint pain
joint space narrowing
flexion contractures, especially at hip and knee
epiphyseal flattening of long bones
more
Skeletal Pelvis:
coxa valga
hypoplastic ilia
flat acetabulum

Growth Height:
normal height

Skeletal:
'z'-posture (due to hip and knee flexion)
accumulation of glycoprotein in chondrocytes

Skeletal Spine:
kyphoscoliosis
platyspondyly
stiffness
anterior wedging
elongated vertebral bodies

Head And Neck Neck:
neck stiffness

Head And Neck Mouth:
limited mouth opening (in some patients)

Skeletal Hands:
prominent metaphyses
contractures of finger joints
bulbous ends of short tubular bones

Clinical features from OMIM®:

616583 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia, Stanescu Type:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 ALDH18A1 COL2A1

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia, Stanescu Type

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

Genetic Tests for Spondyloepiphyseal Dysplasia, Stanescu Type

Genetic tests related to Spondyloepiphyseal Dysplasia, Stanescu Type:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia, Stanescu Type 29 COL2A1

Anatomical Context for Spondyloepiphyseal Dysplasia, Stanescu Type

Publications for Spondyloepiphyseal Dysplasia, Stanescu Type

Articles related to Spondyloepiphyseal Dysplasia, Stanescu Type:

(showing 5, show less)
# Title Authors PMID Year
1
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. 57 6 61
26183434 2015
2
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. 6 57
26420734 2016
3
Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type. 61 57
9592900 1998
4
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 57
10471507 1999
5
[Spondyloepiphyseal dysplasia with an accumulation of glycoproteins in chondrocytes]. 57
6430256 1984

Variations for Spondyloepiphyseal Dysplasia, Stanescu Type

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Stanescu Type:

6 (showing 12, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) SNV Pathogenic 224878 rs869312907 GRCh37: 12:48389693-48389693
GRCh38: 12:47995910-47995910
2 COL2A1 NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) SNV Pathogenic 446168 rs760093841 GRCh37: 12:48369331-48369331
GRCh38: 12:47975548-47975548
3 COL2A1 NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg) SNV Pathogenic 666308 rs1592198747 GRCh37: 12:48370332-48370332
GRCh38: 12:47976549-47976549
4 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
5 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
6 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
7 COL2A1 NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) SNV Likely pathogenic 829805 rs1592197682 GRCh37: 12:48369780-48369780
GRCh38: 12:47975997-47975997
8 ALDH18A1 NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) SNV Uncertain significance 392663 rs765380273 GRCh37: 10:97387286-97387286
GRCh38: 10:95627529-95627529
9 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
10 ALDH18A1 NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) SNV Uncertain significance 689652 rs773714478 GRCh37: 10:97369983-97369983
GRCh38: 10:95610226-95610226
11 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
12 COL2A1 NM_001844.5(COL2A1):c.541G>T (p.Ala181Ser) SNV Benign 983054 GRCh37: 12:48390399-48390399
GRCh38: 12:47996616-47996616

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia, Stanescu Type:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly207Arg VAR_075729 rs869312907

Expression for Spondyloepiphyseal Dysplasia, Stanescu Type

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

Pathways for Spondyloepiphyseal Dysplasia, Stanescu Type

GO Terms for Spondyloepiphyseal Dysplasia, Stanescu Type

Molecular functions related to Spondyloepiphyseal Dysplasia, Stanescu Type according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 COL2A1 ALDH18A1

Sources for Spondyloepiphyseal Dysplasia, Stanescu Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....