SEDT
MCID: SPN405
MIFTS: 47

Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

Categories: Bone diseases, Fetal diseases, 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 54 71
Spondyloepiphyseal Dysplasia Tarda 57 12 58 73 36 29 13 6 15 39
X-Linked Spondyloepiphyseal Dysplasia Tarda 12 25 43
Sedt 57 73
Spondyloepiphyseal Dysplasia Tarda X-Linked 20
X Linked Spondyloepiphyseal Dysplasia Tarda 20
Late Onset Spondyloepiphyseal Dysplasia 43
X-Linked Spondyloepiphyseal Dysplasia 20
Dysplasia, Spondyloepiphyseal, Tarda 39
Spondyloepiphyseal Dysplasia, Late 57
Spondyloepiphyseal Dysplasia 71
Sed Tarda, X-Linked 57
X-Linked Sedt 43
X-Linked Sed 43
Sed Tarda 43
Sed 20

Characteristics:

Orphanet epidemiological data:

58
spondyloepiphyseal dysplasia tarda
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
arthralgias
age of onset 5-10 years
carrier females have arthralgias in middle age

Inheritance:
x-linked recessive


HPO:

31
spondyloepiphyseal dysplasia tarda, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080362
OMIM® 57 313400
KEGG 36 H00760
ICD10 via Orphanet 33 Q77.7
Orphanet 58 ORPHA93284
UMLS 71 C0038015 C3541456

Summaries for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MedlinePlus Genetics : 43 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.Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, X-Linked, also known as spondyloepiphyseal dysplasia tarda, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and odontochondrodysplasia, and has symptoms including arthralgia An important gene associated with Spondyloepiphyseal Dysplasia Tarda, X-Linked is TRAPPC2 (Trafficking Protein Particle Complex Subunit 2), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include bone, and related phenotypes are short thorax and arthralgia

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22.

GARD : 20 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.

KEGG : 36 X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.

UniProtKB/Swiss-Prot : 73 Spondyloepiphyseal dysplasia tarda: X-linked recessive disorder of endochondral bone formation.

More information from OMIM: 313400
GeneReviews: NBK1145

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:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 30.8 TRAPPC2B TRAPPC2 CCN6
2 odontochondrodysplasia 30.6 TRAPPC2B TRAPPC2 MIA2 CCN6
3 spondyloepiphyseal dysplasia, maroteaux type 11.6
4 spondyloepiphyseal dysplasia tarda, autosomal recessive 11.4
5 spondyloepiphyseal dysplasia congenita 11.4
6 brachyolmia type 1, toledo type 11.4
7 spondyloepiphyseal dysplasia tarda with characteristic facies 11.3
8 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 11.3
9 progressive pseudorheumatoid dysplasia 11.2
10 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.2
11 spondyloepiphyseal dysplasia, stanescu type 11.1
12 spondyloepiphyseal dysplasia tarda, autosomal dominant 11.1
13 spondyloepiphyseal dysplasia, kondo-fu type 11.0
14 spondyloepiphyseal dysplasia tarda with mental retardation 10.9
15 spondyloepiphyseal dysplasia, kimberley type 10.9
16 spondyloepimetaphyseal dysplasia, strudwick type 10.9
17 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 10.9
18 juvenile rheumatoid arthritis 10.4
19 osteoarthritis 10.3
20 coxa vara 10.2
21 autosomal recessive disease 10.2
22 scoliosis 10.2
23 bone disease 10.2
24 osteochondrosis 10.2
25 back pain 10.2
26 primary bone dysplasia 10.2
27 fibrosarcoma 10.1
28 schimke immunoosseous dysplasia 10.1
29 osteogenic sarcoma 10.1
30 czech dysplasia 10.1
31 odontoid hypoplasia 10.1
32 juvenile arthritis 10.1
33 brachydactyly 10.1
34 metaphyseal dysplasia 10.1
35 nephrotic syndrome 10.1
36 gonadal dysgenesis 10.1
37 dysostosis 10.1
38 glomerulonephritis 10.1
39 turner syndrome 10.1
40 mesangial proliferative glomerulonephritis 10.1
41 eye disease 10.1
42 paraplegia 10.1
43 lymphopenia 10.1
44 spinal stenosis 10.1
45 cataract 10.1
46 osteochondritis dissecans 10.1
47 arthritis 10.1
48 dwarfism 10.1
49 slipped capital femoral epiphysis 10.1
50 idiopathic avascular necrosis 10.1

Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:



Diseases related to Spondyloepiphyseal Dysplasia Tarda, X-Linked

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
4 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 disproportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003498
6 thoracic kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002942
7 upper limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009824
8 barrel-shaped chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0001552
9 spondyloepiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002655
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
12 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
13 hypoplasia of the odontoid process 58 31 frequent (33%) Frequent (79-30%) HP:0003311
14 hypoplastic iliac wing 58 31 frequent (33%) Frequent (79-30%) HP:0002866
15 hip osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0008843
16 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
17 kyphosis 31 HP:0002808
18 disproportionate short-trunk short stature 31 HP:0003521
19 opacification of the corneal stroma 31 HP:0007759
20 shield chest 31 HP:0000914
21 osteoarthritis 58 Very frequent (99-80%)
22 limitation of joint mobility 31 HP:0001376
23 irregular epiphyses 31 HP:0010582
24 short femoral neck 31 HP:0100864
25 hypoplasia of the capital femoral epiphysis 31 HP:0003090
26 hump-shaped mound of bone in central and posterior portions of vertebral endplate 31 HP:0004594

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
kyphosis
platyspondyly
lumbar hyperlordosis
hump-shaped mound of bone in central and posterior portions of vertebral endplate
mild scoliosis
more
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

Head And Neck Neck:
short neck

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 (Updated 05-Mar-2021)

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

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:

40
Bone

Publications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Articles related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. 25 54 57 61 6
10431248 1999
2
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. 25 61 57 6
9990351 1999
3
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. 6 57 61 54
14755465 2004
4
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. 61 57 25
23019651 2012
5
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. 25 61 6
12919139 2003
6
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. 61 25 6
11326333 2001
7
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. 61 6 25
11349230 2001
8
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. 6 61 54
12446987 2002
9
The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. 25 57
3155744 1985
10
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. 6 61
23656395 2014
11
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. 61 6
12030902 2002
12
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. 54 25 61
11252002 2001
13
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. 61 6
10999831 2000
14
Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. 61 57
3198127 1988
15
Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma. 61 57
6809944 1982
16
X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. 61 57
4999590 1971
17
Spondyloepiphyseal dysplasia tarda: report of one case. 25 61
12041616 2002
18
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 6
11424925 2001
19
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. 61 25
11031107 2000
20
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. 57
8733060 1996
21
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. 57
7903956 1993
22
Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers. 57
3733841 1986
23
SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT. 57
14153674 1964
24
An unusual form of familial osteodystrophy. 57
13796581 1960
25
Late spondyloepiphyseal dysplasia; clinical and radiological description. 57
13453331 1957
26
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
27
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 54 61
19766614 2009
28
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. 61 54
19417549 2009
29
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. 54 61
19002213 2009
30
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. 61 54
18393234 2008
31
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. 54 61
11760838 2001
32
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. 61
32471379 2020
33
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India. 61
32953644 2020
34
Spondyloepiphyseal Dysplasia Tarda. 61
31693650 2019
35
The modified anterolateral approach to the humerus. 61
31423937 2019
36
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. 61
31053099 2019
37
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 61
30200995 2018
38
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia. 61
29593476 2018
39
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). 61
30647738 2018
40
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. 61
30083037 2018
41
A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis. 61
29686445 2018
42
Progressive Pseudorheumatoid Dysplasia or JIA? 61
28316857 2017
43
Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. 61
27890699 2016
44
Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. 61
27401665 2016
45
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. 61
26252088 2015
46
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. 61
26594095 2015
47
Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. 61
25553839 2015
48
[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. 61
25297591 2014
49
Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. 61
24862418 2014
50
[Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family]. 61
24711020 2014

Variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC2 NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter) SNV Pathogenic 11514 rs122460156 X:13732558-13732558 X:13714439-13714439
2 TRAPPC2 NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter) SNV Pathogenic 11515 rs104894949 X:13732620-13732620 X:13714501-13714501
3 TRAPPC2 NM_001011658.4(TRAPPC2):c.387del (p.Val130fs) Deletion Pathogenic 11517 rs587776754 X:13732562-13732562 X:13714443-13714443
4 TRAPPC2 NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu) SNV Pathogenic 623471 rs1602717698 X:13738082-13738082 X:13719963-13719963
5 TRAPPC2 NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs) Deletion Pathogenic 623472 rs1602717625 X:13738043-13738043 X:13719924-13719924
6 TRAPPC2 NM_001011658.4(TRAPPC2):c.239_240AT[1] (p.Met81fs) Microsatellite Pathogenic 804351 rs1602708047 X:13734205-13734206 X:13716086-13716087
7 TRAPPC2 NC_000023.11:g.13716556_13716557CA[1] Microsatellite Pathogenic 694600 X:13734674-13734675 X:13716555-13716556
8 TRAPPC2 NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer) Deletion Pathogenic 11507 rs587776748 X:13738029-13738030 X:13719910-13719911
9 TRAPPC2 NM_001011658.4(TRAPPC2):c.189_190TG[1] (p.Val64fs) Microsatellite Pathogenic 11508 rs587776749 X:13734699-13734700 X:13716580-13716581
10 TRAPPC2 NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs) Deletion Pathogenic 11509 rs587776750 X:13734733-13734734 X:13716614-13716615
11 TRAPPC2 NM_001011658.4(TRAPPC2):c.93+5G>A SNV Pathogenic 11512 rs587776752 X:13737985-13737985 X:13719866-13719866
12 TRAPPC2 NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) SNV Pathogenic 11513 rs104894948 X:13734199-13734199 X:13716080-13716080
13 TRAPPC2 NM_001011658.4(TRAPPC2):c.238+4T>C SNV Pathogenic 11516 rs587776753 X:13734649-13734649 X:13716530-13716530
14 TRAPPC2 NM_001011658.4(TRAPPC2):c.239-11_239-9del Deletion Pathogenic 127114 rs587777330 X:13734217-13734219 X:13716098-13716100
15 TRAPPC2 NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs) Deletion Pathogenic 11510 rs587776751 X:13734172-13734176 X:13716053-13716057
16 TRAPPC2 NM_001011658.4(TRAPPC2):c.-97G>A SNV Conflicting interpretations of pathogenicity 212743 rs746032983 X:13752240-13752240 X:13734121-13734121
17 TRAPPC2 NM_001011658.4(TRAPPC2):c.-19-3T>C SNV Uncertain significance 912342 X:13738104-13738104 X:13719985-13719985
18 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1486G>A SNV Uncertain significance 915018 X:13731040-13731040 X:13712921-13712921
19 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1442C>T SNV Uncertain significance 915020 X:13731084-13731084 X:13712965-13712965
20 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1436C>T SNV Uncertain significance 915021 X:13731090-13731090 X:13712971-13712971
21 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1288T>G SNV Uncertain significance 915023 X:13731238-13731238 X:13713119-13713119
22 TRAPPC2 NM_001011658.4(TRAPPC2):c.*332C>T SNV Uncertain significance 915066 X:13732194-13732194 X:13714075-13714075
23 TRAPPC2 NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr) SNV Uncertain significance 931726 X:13734715-13734715 X:13716596-13716596
24 TRAPPC2 NM_001011658.4(TRAPPC2):c.*187A>T SNV Uncertain significance 912340 X:13732339-13732339 X:13714220-13714220
25 TRAPPC2 NM_001011658.4(TRAPPC2):c.*263T>C SNV Uncertain significance 912339 X:13732263-13732263 X:13714144-13714144
26 TRAPPC2 NM_001011658.4(TRAPPC2):c.*308G>A SNV Uncertain significance 912337 X:13732218-13732218 X:13714099-13714099
27 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1287G>T SNV Uncertain significance 913060 X:13731239-13731239 X:13713120-13713120
28 TRAPPC2 NM_001011658.4(TRAPPC2):c.-179G>C SNV Uncertain significance 367996 rs1057515797 X:13752661-13752661 X:13734542-13734542
29 TRAPPC2 NM_001011658.4(TRAPPC2):c.*243G>T SNV Uncertain significance 367994 rs1057515795 X:13732283-13732283 X:13714164-13714164
30 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1032T>C SNV Uncertain significance 913062 X:13731494-13731494 X:13713375-13713375
31 TRAPPC2 NM_001011658.4(TRAPPC2):c.*989G>T SNV Uncertain significance 913063 X:13731537-13731537 X:13713418-13713418
32 TRAPPC2 NM_001011658.4(TRAPPC2):c.*949G>T SNV Uncertain significance 913422 X:13731577-13731577 X:13713458-13713458
33 TRAPPC2 NM_001011658.4(TRAPPC2):c.*867C>T SNV Uncertain significance 913423 X:13731659-13731659 X:13713540-13713540
34 TRAPPC2 NM_001011658.4(TRAPPC2):c.*712A>G SNV Uncertain significance 913424 X:13731814-13731814 X:13713695-13713695
35 TRAPPC2 NM_001011658.4(TRAPPC2):c.*690T>C SNV Uncertain significance 914536 X:13731836-13731836 X:13713717-13713717
36 TRAPPC2 NM_001011658.4(TRAPPC2):c.*670C>T SNV Uncertain significance 914537 X:13731856-13731856 X:13713737-13713737
37 TRAPPC2 NM_001011658.4(TRAPPC2):c.*522G>A SNV Uncertain significance 914539 X:13732004-13732004 X:13713885-13713885
38 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1191C>T SNV Uncertain significance 367972 rs1057515789 X:13731335-13731335 X:13713216-13713216
39 TRAPPC2 NM_001011658.4(TRAPPC2):c.*703G>A SNV Uncertain significance 367984 rs554971161 X:13731823-13731823 X:13713704-13713704
40 TRAPPC2 NM_001011658.4(TRAPPC2):c.*465T>G SNV Uncertain significance 367987 rs780841342 X:13732061-13732061 X:13713942-13713942
41 TRAPPC2 NM_001011658.4(TRAPPC2):c.*752A>G SNV Uncertain significance 367982 rs1057515791 X:13731774-13731774 X:13713655-13713655
42 TRAPPC2 NM_001011658.4(TRAPPC2):c.*942G>T SNV Uncertain significance 367979 rs768568672 X:13731584-13731584 X:13713465-13713465
43 TRAPPC2 NM_001011658.4(TRAPPC2):c.*435A>G SNV Uncertain significance 367988 rs368897746 X:13732091-13732091 X:13713972-13713972
44 TRAPPC2 NM_001011658.4(TRAPPC2):c.*323T>G SNV Uncertain significance 367991 rs1057515792 X:13732203-13732203 X:13714084-13714084
45 TRAPPC2 NM_001011658.4(TRAPPC2):c.*179A>T SNV Uncertain significance 367995 rs1057515796 X:13732347-13732347 X:13714228-13714228
46 TRAPPC2 NM_001011658.4(TRAPPC2):c.*2060G>A SNV Uncertain significance 367965 rs1057515788 X:13730466-13730466 X:13712347-13712347
47 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1050C>T SNV Likely benign 367974 rs184686872 X:13731476-13731476 X:13713357-13713357
48 TRAPPC2 NM_001011658.4(TRAPPC2):c.*849C>T SNV Likely benign 367980 rs112880750 X:13731677-13731677 X:13713558-13713558
49 TRAPPC2 NM_001011658.4(TRAPPC2):c.*710T>C SNV Likely benign 367983 rs141763219 X:13731816-13731816 X:13713697-13713697
50 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1229C>T SNV Likely benign 367971 rs141809461 X:13731297-13731297 X:13713178-13713178

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

73
# 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

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

Cellular components related to Spondyloepiphyseal Dysplasia Tarda, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.1 TRAPPC9 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L
2 endoplasmic reticulum GO:0005783 10 TRAPPC9 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L TRAPPC3
3 Golgi membrane GO:0000139 9.81 TRAPPC9 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3 TRAPPC2L
4 perinuclear region of cytoplasm GO:0048471 9.78 TRAPPC2L TRAPPC2B TRAPPC2 TRAPPC12
5 Golgi apparatus GO:0005794 9.7 TRAPPC9 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L
6 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.63 TRAPPC2B TRAPPC2 TRAPPC12
7 TRAPP complex GO:0030008 9.44 TRAPPC9 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L
8 cis-Golgi network membrane GO:0033106 9.43 TRAPPC3L TRAPPC3
9 TRAPPII protein complex GO:1990071 9.4 TRAPPC5 TRAPPC10
10 TRAPPIII protein complex GO:1990072 9.37 TRAPPC8 TRAPPC5

Biological processes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 COPII vesicle coating GO:0048208 9.81 TRAPPC9 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3 TRAPPC2L
2 vesicle-mediated transport GO:0016192 9.73 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L TRAPPC3
3 Golgi vesicle transport GO:0048193 9.56 TRAPPC6A TRAPPC5 TRAPPC3L TRAPPC3
4 intra-Golgi vesicle-mediated transport GO:0006891 9.5 TRAPPC3L TRAPPC3 TRAPPC10
5 ER to Golgi vesicle-mediated transport GO:0006888 9.4 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3L TRAPPC3

Sources for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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