MCID: SPN328
MIFTS: 21

Spondyloepiphyseal Dysplasia, Stanescu Type

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

Aliases & Classifications for Spondyloepiphyseal Dysplasia, Stanescu Type

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia, Stanescu Type:

Name: Spondyloepiphyseal Dysplasia, Stanescu Type 57 59 75 29 6
Sed, Stanescu Type 57 59 75
Sedstn 57 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepiphyseal dysplasia, stanescu type
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
symptoms appear in early childhood and are progressive


HPO:

32
spondyloepiphyseal dysplasia, stanescu type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616583
Orphanet 59 ORPHA459051
ICD10 via Orphanet 34 Q77.7
MeSH 44 D010009

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)

MalaCards based summary : Spondyloepiphyseal Dysplasia, Stanescu Type, also known as sed, stanescu type, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and arthropathy, progressive pseudorheumatoid, of childhood. An important gene associated with Spondyloepiphyseal Dysplasia, Stanescu Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are trismus and platyspondyly

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
2 arthropathy, progressive pseudorheumatoid, of childhood 10.2

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia, Stanescu Type

Symptoms via clinical synopsis from OMIM:

57
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

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

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

Skeletal Spine:
platyspondyly
kyphoscoliosis
stiffness
anterior wedging
elongated vertebral bodies

Growth Height:
normal height

Head And Neck Neck:
neck stiffness

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


Clinical features from OMIM:

616583

Human phenotypes related to Spondyloepiphyseal Dysplasia, Stanescu Type:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 trismus 32 occasional (7.5%) HP:0000211
2 platyspondyly 32 HP:0000926
3 hypoplastic ilia 32 HP:0000946
4 spondyloepiphyseal dysplasia 32 HP:0002655
5 coxa valga 32 HP:0002673
6 kyphoscoliosis 32 HP:0002751
7 arthralgia 32 HP:0002829
8 beaking of vertebral bodies 32 HP:0004568
9 stiff neck 32 HP:0025258

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

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

41
Bone

Publications for Spondyloepiphyseal Dysplasia, Stanescu Type

Articles related to Spondyloepiphyseal Dysplasia, Stanescu Type:

# Title Authors Year
1
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. ( 26183434 )
2015

Variations for Spondyloepiphyseal Dysplasia, Stanescu Type

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

75
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly207Arg VAR_075729 rs869312907

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia, Stanescu Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.619G> A (p.Gly207Arg) single nucleotide variant Pathogenic rs869312907 GRCh37 Chromosome 12, 48389693: 48389693
2 COL2A1 NM_001844.4(COL2A1): c.619G> A (p.Gly207Arg) single nucleotide variant Pathogenic rs869312907 GRCh38 Chromosome 12, 47995910: 47995910
3 COL2A1 NM_001844.4(COL2A1): c.3655G> C (p.Asp1219His) single nucleotide variant Pathogenic rs760093841 GRCh37 Chromosome 12, 48369331: 48369331
4 COL2A1 NM_001844.4(COL2A1): c.3655G> C (p.Asp1219His) single nucleotide variant Pathogenic rs760093841 GRCh38 Chromosome 12, 47975548: 47975548

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

Sources for Spondyloepiphyseal Dysplasia, Stanescu 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
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38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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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