MCID: SPN405
MIFTS: 33

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, X-Linked:

Name: Spondyloepiphyseal Dysplasia Tarda, X-Linked 57 55 73
Spondyloepiphyseal Dysplasia Tarda 57 75 37 29 13 6 40
X-Linked Spondyloepiphyseal Dysplasia Tarda 24 25
Sedt 57 75
Spondyloepiphyseal Dysplasia Tarda X-Linked 53
X Linked Spondyloepiphyseal Dysplasia Tarda 53
Late Onset Spondyloepiphyseal Dysplasia 25
X-Linked Spondyloepiphyseal Dysplasia 53
Dysplasia, Spondyloepiphyseal, Tarda 40
Spondyloepiphyseal Dysplasia, Late 57
Spondyloepiphyseal Dysplasia 73
Sed Tarda, X-Linked 57
X-Linked Sedt 25
X-Linked Sed 25
Sed Tarda 25
Sed 53

Characteristics:

OMIM:

57
Miscellaneous:
arthralgias
age of onset 5-10 years
carrier females have arthralgias in middle age

Inheritance:
x-linked recessive


HPO:

32
spondyloepiphyseal dysplasia tarda, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Spondyloepiphyseal Dysplasia Tarda, X-Linked

NIH Rare Diseases : 53 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.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, X-Linked, also known as spondyloepiphyseal dysplasia tarda, is related to spondyloepiphyseal dysplasia congenita and arthropathy, progressive pseudorheumatoid, of childhood, and has symptoms including arthralgia An important gene associated with Spondyloepiphyseal Dysplasia Tarda, X-Linked is TRAPPC2 (Trafficking Protein Particle Complex 2). Affiliated tissues include bone, and related phenotypes are short neck and abnormality of epiphysis morphology

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 of long bones (epiphyses) 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.

UniProtKB/Swiss-Prot : 75 Spondyloepiphyseal dysplasia tarda: X-linked recessive disorder of endochondral bone formation.

Description from OMIM: 313400
GeneReviews:

Related Diseases for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 11.5
2 arthropathy, progressive pseudorheumatoid, of childhood 11.2
3 spondyloepiphyseal dysplasia tarda, autosomal dominant 11.1
4 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

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

Chest External Features:
broad chest

Skeletal Spine:
kyphosis
platyspondyly
lumbar hyperlordosis
mild scoliosis
hump-shaped mound of bone in central and posterior portions of vertebral endplate
more
Skeletal Pelvis:
coxa vara
small iliac wings

Head And Neck Eyes:
corneal opacities

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


Clinical features from OMIM:

313400

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

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

UMLS symptoms related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:


arthralgia

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Interventional clinical trials:


# 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, X-Linked

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genetic tests related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

# Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Tarda 29 TRAPPC2

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

41
Bone

Publications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Articles related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

(show top 50) (show all 63)
# 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
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )
2015
5
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )
2015
6
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )
2014
7
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )
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
Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )
2012
11
Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )
2012
12
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )
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
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614 )
2009
16
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763 )
2009
17
Spondyloepiphyseal dysplasia tarda: four cases from two families. ( 18932001 )
2009
18
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. ( 19417549 )
2009
19
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
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
Slipped upper femoral epiphysis in a child with spondyloepiphyseal dysplasia tarda: a rare coincidence? ( 19197873 )
2007
23
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
24
Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. ( 15952107 )
2005
25
[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. ( 16029628 )
2005
26
Spondyloepiphyseal dysplasia tarda: description of one case. ( 16681109 )
2005
27
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15641278 )
2004
28
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. ( 14755465 )
2004
29
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. ( 15221797 )
2004
30
[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. ( 15300622 )
2004
31
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964 )
2004
32
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. ( 15631777 )
2004
33
A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. ( 12650905 )
2003
34
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. ( 14624098 )
2003
35
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ( 12939648 )
2003
36
[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 12579492 )
2003
37
X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. ( 14763708 )
2003
38
Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. ( 12123495 )
2002
39
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. ( 12446987 )
2002
40
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. ( 12030902 )
2002
41
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. ( 12361953 )
2002
42
The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. ( 11595175 )
2001
43
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. ( 11349230 )
2001
44
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. ( 11760838 )
2001
45
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. ( 11252002 )
2001
46
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. ( 11326333 )
2001
47
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. ( 11443194 )
2001
48
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. ( 10999831 )
2000
49
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: an important form of osteodysplasia in the differential diagnosis of juvenile rheumatoid arthritis. ( 11059550 )
2000
50
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. ( 11031107 )
2000

Variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

75
# 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, X-Linked:

6
(show all 24)
# 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.53_54delTT (p.Phe18Terfs) deletion Pathogenic rs587776748 GRCh38 Chromosome X, 13719910: 13719911
3 TRAPPC2 NM_001011658.3(TRAPPC2): c.191_192delTG (p.Val64Glyfs) deletion Pathogenic rs587776749 GRCh37 Chromosome X, 13734699: 13734700
4 TRAPPC2 NM_001011658.3(TRAPPC2): c.191_192delTG (p.Val64Glyfs) deletion Pathogenic rs587776749 GRCh38 Chromosome X, 13716580: 13716581
5 TRAPPC2 NM_001011658.3(TRAPPC2): c.157_158delAT (p.Met53Valfs) deletion Pathogenic rs587776750 GRCh37 Chromosome X, 13734733: 13734734
6 TRAPPC2 NM_001011658.3(TRAPPC2): c.157_158delAT (p.Met53Valfs) deletion Pathogenic rs587776750 GRCh38 Chromosome X, 13716614: 13716615
7 TRAPPC2 NM_001011658.3(TRAPPC2): c.271_275delCAAGA (p.Gln91Argfs) deletion Pathogenic rs587776751 GRCh37 Chromosome X, 13734172: 13734176
8 TRAPPC2 NM_001011658.3(TRAPPC2): c.271_275delCAAGA (p.Gln91Argfs) deletion Pathogenic rs587776751 GRCh38 Chromosome X, 13716053: 13716057
9 TRAPPC2 NM_001011658.3(TRAPPC2): c.93+5G> A single nucleotide variant Pathogenic rs587776752 GRCh37 Chromosome X, 13737985: 13737985
10 TRAPPC2 NM_001011658.3(TRAPPC2): c.93+5G> A single nucleotide variant Pathogenic rs587776752 GRCh38 Chromosome X, 13719866: 13719866
11 TRAPPC2 NM_001011658.3(TRAPPC2): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic rs104894948 GRCh37 Chromosome X, 13734199: 13734199
12 TRAPPC2 NM_001011658.3(TRAPPC2): c.248T> C (p.Phe83Ser) single nucleotide variant Pathogenic rs104894948 GRCh38 Chromosome X, 13716080: 13716080
13 TRAPPC2 NM_001011658.3(TRAPPC2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic rs122460156 GRCh37 Chromosome X, 13732558: 13732558
14 TRAPPC2 NM_001011658.3(TRAPPC2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic rs122460156 GRCh38 Chromosome X, 13714439: 13714439
15 TRAPPC2 NM_001011658.3(TRAPPC2): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs104894949 GRCh37 Chromosome X, 13732620: 13732620
16 TRAPPC2 NM_001011658.3(TRAPPC2): c.329C> A (p.Ser110Ter) single nucleotide variant Pathogenic rs104894949 GRCh38 Chromosome X, 13714501: 13714501
17 TRAPPC2 NM_001011658.3(TRAPPC2): c.238+4T> C single nucleotide variant Pathogenic rs587776753 GRCh37 Chromosome X, 13734649: 13734649
18 TRAPPC2 NM_001011658.3(TRAPPC2): c.238+4T> C single nucleotide variant Pathogenic rs587776753 GRCh38 Chromosome X, 13716530: 13716530
19 TRAPPC2 NM_001011658.3(TRAPPC2): c.387delA (p.Val130Phefs) deletion Pathogenic rs587776754 GRCh37 Chromosome X, 13732562: 13732562
20 TRAPPC2 NM_001011658.3(TRAPPC2): c.387delA (p.Val130Phefs) deletion Pathogenic rs587776754 GRCh38 Chromosome X, 13714443: 13714443
21 TRAPPC2 NM_001011658.3(TRAPPC2): c.239-11_239-9delAAT deletion Pathogenic rs587777330 GRCh37 Chromosome X, 13734217: 13734219
22 TRAPPC2 NM_001011658.3(TRAPPC2): c.239-11_239-9delAAT deletion Pathogenic rs587777330 GRCh38 Chromosome X, 13716098: 13716100
23 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh37 Chromosome X, 13752240: 13752240
24 TRAPPC2 NM_001128835.2(TRAPPC2): c.12G> A (p.Trp4Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746032983 GRCh38 Chromosome X, 13734121: 13734121

Expression for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda, X-Linked.

Pathways for Spondyloepiphyseal Dysplasia Tarda, X-Linked

GO Terms for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Sources for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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