MCID: SPN061
MIFTS: 42

Spondyloepiphyseal Dysplasia Tarda

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda:

Name: Spondyloepiphyseal Dysplasia Tarda 54 71 29 13
Spondyloepiphyseal Dysplasia Tarda, X-Linked 24 52 69
X-Linked Spondyloepiphyseal Dysplasia Tarda 23 24 25
X-Linked Sed 23 24 25
Sedt 23 24 71
Spondyloepiphyseal Dysplasia 25 69
Sed Tarda, X-Linked 23 24
Spondyloepiphyseal Dysplasia Tarda X-Linked 50
X Linked Spondyloepiphyseal Dysplasia Tarda 50
Late-Onset Spondyloepiphyseal Dysplasia 25
Spondyloepiphyseal Dysplasia, Congenita 69
X-Linked Spondyloepiphyseal Dysplasia 50
Dysplasia, Spondyloepiphyseal 25
Mucopolysaccharidosis Iv 69
X-Linked Sedt 25
Sed Tarda 25
Sed 50

Characteristics:

OMIM:

54
Miscellaneous:
arthralgias
age of onset 5-10 years
carrier females have arthralgias in middle age

Inheritance:
x-linked recessive


HPO:

32
spondyloepiphyseal dysplasia tarda:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Tarda

NIH Rare Diseases : 50 x-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that  affects males only. physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. this condition is caused by mutations in the trappc2 gene and is inherited in an x-linked recessive pattern. last updated: 5/10/2011

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, also known as spondyloepiphyseal dysplasia tarda, x-linked, is related to spondyloepiphyseal dysplasia tarda, autosomal dominant and spondyloepiphyseal dysplasia tarda with mental retardation, and has symptoms including scoliosis, lumbar hyperlordosis and platyspondyly. An important gene associated with Spondyloepiphyseal Dysplasia Tarda is TRAPPC2 (Trafficking Protein Particle Complex 2), and among its related pathways/superpathways are Endochondral Ossification and Cell adhesion_ECM remodeling. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 Spondyloepiphyseal dysplasia tarda: X-linked recessive disorder of endochondral bone formation.

Genetics Home Reference : 25 X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.

Description from OMIM: 313400
GeneReviews: NBK1145

Related Diseases for Spondyloepiphyseal Dysplasia Tarda

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia Tarda:



Diseases related to Spondyloepiphyseal Dysplasia Tarda

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
short trunk
final adult height 131-156 cm

Skeletal- Spine:
lumbar hyperlordosis
platyspondyly
kyphosis
mild scoliosis
hump-shaped mound of bone in central and posterior portions of vertebral endplate
more
Head And Neck- Neck:
short neck

Skeletal- Limbs:
short femoral neck
small capital femoral epiphyses
mild epiphyseal irregularities

Chest- External Features:
broad chest

Head And Neck- Eyes:
corneal opacities

Skeletal- Pelvis:
coxa vara
small iliac wings

Skeletal:
osteoarthritis (back, hip, knee)
limited joint motion


Clinical features from OMIM:

313400

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 lumbar hyperlordosis 32 frequent (33%) HP:0002938
3 platyspondyly 32 hallmark (90%) HP:0000926
4 kyphosis 32 HP:0002808
5 short neck 32 frequent (33%) HP:0000470
6 coxa vara 32 frequent (33%) HP:0002812
7 barrel-shaped chest 32 hallmark (90%) HP:0001552
8 spondyloepiphyseal dysplasia 32 hallmark (90%) HP:0002655
9 short femoral neck 32 HP:0100864
10 thoracic kyphosis 32 hallmark (90%) HP:0002942
11 arthralgia 32 hallmark (90%) HP:0002829
12 hypoplastic iliac wing 32 frequent (33%) HP:0002866
13 shield chest 32 HP:0000914
14 hip osteoarthritis 32 frequent (33%) HP:0008843
15 irregular epiphyses 32 HP:0010582
16 short thorax 32 hallmark (90%) HP:0010306
17 hump-shaped mound of bone in central and posterior portions of vertebral endplate 32 HP:0004594
18 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
19 disproportionate short-trunk short stature 32 HP:0003521
20 opacification of the corneal stroma 32 HP:0007759
21 limitation of joint mobility 32 HP:0001376
22 upper limb undergrowth 32 hallmark (90%) HP:0009824
23 hypoplasia of the odontoid process 32 frequent (33%) HP:0003311
24 disproportionate short stature 32 hallmark (90%) HP:0003498
25 hypoplasia of the capital femoral epiphysis 32 HP:0003090

UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda:


waddling gait, respiratory distress, arthralgia

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
2 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda

Genetic tests related to Spondyloepiphyseal Dysplasia Tarda:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Tarda 29
2 Spondyloepiphyseal Dysplasia Tarda, X-Linked 24 TRAPPC2

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Tarda:

39
Bone

Publications for Spondyloepiphyseal Dysplasia Tarda

Articles related to Spondyloepiphyseal Dysplasia Tarda:

(show top 50) (show all 59)
id Title Authors Year
1
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665 )
2016
2
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699 )
2016
3
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088 )
2015
4
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )
2015
5
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )
2015
6
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )
2014
7
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )
2014
8
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781 )
2014
9
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379 )
2013
10
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )
2012
11
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )
2012
12
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )
2012
13
Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896 )
2011
14
Large Osteochondral Fracture in a Patient with Bilateral Bicondylar Osteochondritis Dissecans and Spondyloepiphyseal Dysplasia Tarda. ( 26815696 )
2010
15
Spondyloepiphyseal dysplasia tarda: four cases from two families. ( 18932001 )
2009
16
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614 )
2009
17
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763 )
2009
18
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda. ( 19002213 )
2009
19
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. ( 19417549 )
2009
20
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. ( 18393234 )
2008
21
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 18247296 )
2008
22
Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). ( 17363178 )
2007
23
Slipped upper femoral epiphysis in a child with spondyloepiphyseal dysplasia tarda: a rare coincidence? ( 19197873 )
2007
24
Spondyloepiphyseal dysplasia tarda: description of one case. ( 16681109 )
2005
25
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. ( 15952107 )
2005
26
[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. ( 16029628 )
2005
27
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. ( 15631777 )
2004
28
[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. ( 15300622 )
2004
29
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964 )
2004
30
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. ( 15221797 )
2004
31
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. ( 14755465 )
2004
32
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15641278 )
2004
33
A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. ( 12650905 )
2003
34
[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 12579492 )
2003
35
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. ( 14763708 )
2003
36
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. ( 14624098 )
2003
37
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ( 12939648 )
2003
38
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. ( 12361953 )
2002
39
Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. ( 12123495 )
2002
40
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. ( 12446987 )
2002
41
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. ( 12030902 )
2002
42
The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. ( 11595175 )
2001
43
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. ( 11760838 )
2001
44
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. ( 11443194 )
2001
45
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. ( 11349230 )
2001
46
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. ( 11252002 )
2001
47
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. ( 11326333 )
2001
48
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. ( 11031107 )
2000
49
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: an important form of osteodysplasia in the differential diagnosis of juvenile rheumatoid arthritis. ( 11059550 )
2000
50
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. ( 10999831 )
2000

Variations for Spondyloepiphyseal Dysplasia Tarda

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia Tarda:

71
id Symbol AA change Variation ID SNP ID
1 TRAPPC2 p.Asp47Tyr VAR_012358
2 TRAPPC2 p.Ser73Leu VAR_012359 rs769218264
3 TRAPPC2 p.Val130Asp VAR_012360
4 TRAPPC2 p.Phe83Ser VAR_012361 rs104894948

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Tarda:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC2 NM_001011658.3(TRAPPC2): c.53_54delTT (p.Phe18Terfs) deletion Pathogenic rs587776748 GRCh37 Chromosome X, 13738029: 13738030
2 TRAPPC2 NM_001011658.3(TRAPPC2): c.191_192delTG (p.Val64Glyfs) deletion Pathogenic rs587776749 GRCh37 Chromosome X, 13734699: 13734700
3 TRAPPC2 NM_001011658.3(TRAPPC2): c.157_158delAT (p.Met53Valfs) deletion Pathogenic rs587776750 GRCh37 Chromosome X, 13734733: 13734734
4 TRAPPC2 NM_001011658.3(TRAPPC2): c.271_275delCAAGA (p.Gln91Argfs) deletion Pathogenic rs587776751 GRCh37 Chromosome X, 13734172: 13734176
5 TRAPPC2 NM_001011658.3(TRAPPC2): c.93+5G> A single nucleotide variant Pathogenic rs587776752 GRCh37 Chromosome X, 13737985: 13737985
6 TRAPPC2 NM_001011658.3(TRAPPC2): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic rs104894948 GRCh37 Chromosome X, 13734199: 13734199
7 TRAPPC2 NM_001011658.3(TRAPPC2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic rs122460156 GRCh37 Chromosome X, 13732558: 13732558
8 TRAPPC2 NM_001011658.3(TRAPPC2): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs104894949 GRCh37 Chromosome X, 13732620: 13732620
9 TRAPPC2 NM_001011658.3(TRAPPC2): c.238+4T> C single nucleotide variant Pathogenic rs587776753 GRCh37 Chromosome X, 13734649: 13734649
10 TRAPPC2 NM_001011658.3(TRAPPC2): c.387delA (p.Val130Phefs) deletion Pathogenic rs587776754 GRCh37 Chromosome X, 13732562: 13732562
11 TRAPPC2 NM_001011658.3(TRAPPC2): c.239-11_239-9delAAT deletion Pathogenic rs587777330 GRCh37 Chromosome X, 13734217: 13734219

Expression for Spondyloepiphyseal Dysplasia Tarda

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda.

Pathways for Spondyloepiphyseal Dysplasia Tarda

Pathways related to Spondyloepiphyseal Dysplasia Tarda according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.77 COL2A1 IGF1
2 10.41 COL2A1 IGF1

GO Terms for Spondyloepiphyseal Dysplasia Tarda

Cellular components related to Spondyloepiphyseal Dysplasia Tarda according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.62 TRAPPC2 TRAPPC2B

Biological processes related to Spondyloepiphyseal Dysplasia Tarda according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.8 COL2A1 IGF1 TRAPPC2

Sources for Spondyloepiphyseal Dysplasia Tarda

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