SEDT
MCID: SPN405
MIFTS: 50

Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

Name: Spondyloepiphyseal Dysplasia Tarda, X-Linked 57 28 53 5 71
Spondyloepiphyseal Dysplasia Tarda 57 11 58 73 28 12 5 14 38
X-Linked Spondyloepiphyseal Dysplasia Tarda 11 24 42 14
Sedt 57 73
Spondyloepiphyseal Dysplasia Tarda X-Linked 19
X Linked Spondyloepiphyseal Dysplasia Tarda 19
Late Onset Spondyloepiphyseal Dysplasia 42
X-Linked Spondyloepiphyseal Dysplasia 19
Dysplasia, Spondyloepiphyseal, Tarda 38
Spondyloepiphyseal Dysplasia, Late 57
Spondyloepiphyseal Dysplasia 71
Sed Tarda, X-Linked 57
X-Linked Sedt 42
X-Linked Sed 42
Sed Tarda 42
Sed 19

Characteristics:


Inheritance:

Spondyloepiphyseal Dysplasia Tarda, X-Linked: X-linked recessive 57
Spondyloepiphyseal Dysplasia Tarda: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Spondyloepiphyseal Dysplasia Tarda: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
arthralgias
age of onset 5-10 years
carrier females have arthralgias in middle age


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondyloepiphyseal Dysplasia Tarda, X-Linked

MedlinePlus Genetics: 42 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 congenita and osteochondrodysplasia, 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 failure to thrive and disproportionate short-trunk short stature

GARD: 19 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 genetic changes in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.

Disease Ontology 11 X-linked spondyloepiphyseal dysplasia tarda: A spondyloepiphyseal 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.

Spondyloepiphyseal dysplasia tarda: A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth.

Orphanet: 58 Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

UniProtKB/Swiss-Prot: 73 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 113)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 32.1 TRIP11 TRAPPC2 SEC23A DYM
2 osteochondrodysplasia 29.7 TRIP11 TRAPPC3 TRAPPC2B TRAPPC2 DYM
3 spondyloepiphyseal dysplasia tarda, autosomal recessive 11.8
4 spondyloepiphyseal dysplasia tarda with characteristic facies 11.7
5 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 11.7
6 spondyloepiphyseal dysplasia tarda with intellectual disability 11.7
7 spondyloepiphyseal dysplasia, maroteaux type 11.5
8 brachyolmia type 1, toledo type 11.5
9 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
10 progressive pseudorheumatoid dysplasia 11.2
11 spondyloepiphyseal dysplasia, stanescu type 11.2
12 spondyloepiphyseal dysplasia, kondo-fu type 11.2
13 spondyloepiphyseal dysplasia tarda, autosomal dominant 11.1
14 spondyloepiphyseal dysplasia tarda with mental retardation 11.0
15 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness 10.9
16 spondyloepimetaphyseal dysplasia, strudwick type 10.9
17 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 10.9
18 mir140-related spondyloepiphyseal dysplasia 10.9
19 juvenile rheumatoid arthritis 10.5
20 spondyloepiphyseal dysplasia with congenital joint dislocations 10.5
21 ataxia with vitamin e deficiency 10.3
22 coxa vara 10.3
23 scoliosis 10.3
24 turner syndrome 10.3
25 osteochondrosis 10.3
26 type ii collagen disorders 10.3
27 back pain 10.3
28 primary bone dysplasia 10.3
29 diabetes mellitus 10.2
30 cardiovascular system disease 10.1
31 fibrosarcoma 10.1
32 spastic paraplegia 4, autosomal dominant 10.1 TRAPPC2 OFD1
33 chondrocalcinosis 2 10.1
34 developmental dysplasia of the hip 1 10.1
35 endosteal hyperostosis, autosomal dominant 10.1
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
37 osteogenic sarcoma 10.1
38 pyle disease 10.1
39 czech dysplasia 10.1
40 odontoid hypoplasia 10.1
41 juvenile arthritis 10.1
42 brachydactyly 10.1
43 metaphyseal dysplasia 10.1
44 spondyloarthropathy 10.1
45 nephrotic syndrome 10.1
46 mucopolysaccharidosis iv 10.1
47 dysostosis 10.1
48 glomerulonephritis 10.1
49 mesangial proliferative glomerulonephritis 10.1
50 eye disease 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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 disproportionate short-trunk short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003521
3 platyspondyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000926
4 multiple epiphyseal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002654
5 increased arm span 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012771
6 barrel-shaped chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001552
7 multiple skeletal anomalies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005775
8 enlarged metaphyses 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003051
9 hump-shaped mound of bone in central and posterior portions of vertebral endplate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004594
10 premature osteoarthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003088
11 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
12 back pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0003418
13 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
14 joint swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0001386
15 increased bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0011001
16 abnormally ossified vertebrae 58 30 Frequent (33%) Frequent (79-30%)
HP:0100569
17 abnormal cartilage morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002763
18 hip osteoarthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008843
19 intervertebral space narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002945
20 arthralgia of the hip 58 30 Frequent (33%) Frequent (79-30%)
HP:0003365
21 knee pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0030839
22 knee osteoarthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005086
23 abnormal epiphyseal ossification 58 30 Frequent (33%) Frequent (79-30%)
HP:0010656
24 spurred metaphyses of the upper limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0003855
25 abnormal shoulder morphology 30 Frequent (33%) HP:0003043
26 abnormal lumbar spine morphology 30 Frequent (33%) HP:0100712
27 kyphoscoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002751
28 limited elbow movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002996
29 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002812
30 lumbar hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002938
31 biconcave vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004586
32 limited wrist movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006248
33 flattened femoral head 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008812
34 short femoral neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100864
35 hypoplasia of the odontoid process 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003311
36 thoracic kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002942
37 limited shoulder movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006467
38 decreased cervical spine mobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004637
39 finger swelling 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025131
40 localized osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040161
41 dysplasia of the femoral head 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010575
42 abnormality of the tibial plateaux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003832
43 osteoarthritis of the distal interphalangeal joint 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006233
44 enlarged epiphyses of the phalanges of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010231
45 stiff knee 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025263
46 paresthesia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003401
47 scoliosis 58 30 Occasional (29-5%)
HP:0002650
48 limitation of joint mobility 58 30 Frequent (79-30%)
HP:0001376
49 kyphosis 30 HP:0002808
50 opacification of the corneal stroma 30 HP:0007759

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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


arthralgia

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Search Clinical Trials, 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 28
2 Spondyloepiphyseal Dysplasia Tarda, X-Linked 28

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

MalaCards : Bone

Publications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Articles related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

(show top 50) (show all 173)
# Title Authors PMID Year
1
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. 53 62 24 57 5
10431248 1999
2
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. 62 24 57 5
9990351 1999
3
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. 53 62 57 5
14755465 2004
4
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. 62 24 57
23019651 2012
5
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. 62 24 5
12919139 2003
6
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. 62 24 5
11326333 2001
7
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. 62 24 5
11349230 2001
8
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. 53 62 5
12446987 2002
9
The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. 24 57
3155744 1985
10
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. 62 5
23656395 2014
11
An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. 62 5
12030902 2002
12
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 62 5
11424925 2001
13
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. 53 62 24
11252002 2001
14
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. 62 5
10999831 2000
15
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia. 62 57
8733060 1996
16
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. 62 57
7903956 1993
17
Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. 62 57
3198127 1988
18
Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma. 62 57
6809944 1982
19
X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data. 62 57
4999590 1971
20
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. 62 24
15221797 2004
21
Spondyloepiphyseal dysplasia tarda: report of one case. 62 24
12041616 2002
22
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. 62 24
11031107 2000
23
Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers. 57
3733841 1986
24
SPONDYLOEPIPHYSIAL DYSPLASIA TARDA. HEREDITARY CHONDRODYSPLASIA WITH CHARACTERISTIC VERTEBRAL CONFIGURATION IN THE ADULT. 57
14153674 1964
25
An unusual form of familial osteodystrophy. 57
13796581 1960
26
Late spondyloepiphyseal dysplasia; clinical and radiological description. 57
13453331 1957
27
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
28
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. 53 62
19766614 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. 53 62
19002213 2009
30
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. 53 62
19417549 2009
31
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. 53 62
18393234 2008
32
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. 53 62
11760838 2001
33
Mechanisms and influencing factors of yttrium sorption on paddy soil: Experiments and modeling. 62
35843430 2022
34
Spondyloepiphyseal Dysplasia Tarda. 62
31693650 2021
35
Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia. 62
34271408 2021
36
Different binding characteristics of ciprofloxacin to iron mineral surfaces: Thermodynamic evidence and site energy distribution analysis. 62
33751591 2021
37
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report. 62
33726005 2021
38
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Early-onset Hip Arthritis - A Case Report. 62
34141656 2021
39
Growth hormone therapy in a boy with X-linked spondyloepiphyseal dysplasia tarda: a 3-year observation. 62
34010451 2021
40
Effect of Adherence to Physical Exercise on Cardiometabolic Profile in Postmenopausal Women. 62
33466649 2021
41
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. 62
32471379 2020
42
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India. 62
32953644 2020
43
The modified anterolateral approach to the humerus. 62
31423937 2019
44
Evaluation of hepatic iron concentration heterogeneities using the MRI R2* mapping method. 62
31153573 2019
45
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases. 62
31053099 2019
46
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 62
30200995 2018
47
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia. 62
29593476 2018
48
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. 62
30083037 2018
49
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). 62
30647738 2018
50
A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis. 62
29686445 2018

Variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

5 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer) DEL Pathogenic
11507 rs587776748 GRCh37: X:13738029-13738030
GRCh38: X:13719910-13719911
2 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.157_158del (p.Met53fs) DEL Pathogenic
11509 rs587776750 GRCh37: X:13734733-13734734
GRCh38: X:13716614-13716615
3 TRAPPC2 NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter) SNV Pathogenic
11514 rs122460156 GRCh37: X:13732558-13732558
GRCh38: X:13714439-13714439
4 TRAPPC2 NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter) SNV Pathogenic
11515 rs104894949 GRCh37: X:13732620-13732620
GRCh38: X:13714501-13714501
5 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.238+4T>C SNV Pathogenic
11516 rs587776753 GRCh37: X:13734649-13734649
GRCh38: X:13716530-13716530
6 TRAPPC2 NM_001011658.4(TRAPPC2):c.387del (p.Val130fs) DEL Pathogenic
11517 rs587776754 GRCh37: X:13732562-13732562
GRCh38: X:13714443-13714443
7 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.239-11_239-9del DEL Pathogenic
127114 rs587777330 GRCh37: X:13734217-13734219
GRCh38: X:13716098-13716100
8 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.1A>T (p.Met1Leu) SNV Pathogenic
623471 rs1602717698 GRCh37: X:13738082-13738082
GRCh38: X:13719963-13719963
9 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.40del (p.Asp14fs) DEL Pathogenic
623472 rs1602717625 GRCh37: X:13738043-13738043
GRCh38: X:13719924-13719924
10 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.216_217del (p.Ser73fs) MICROSAT Pathogenic
694600 rs2046290303 GRCh37: X:13734674-13734675
GRCh38: X:13716555-13716556
11 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.239-10_239-7del DEL Pathogenic
1332782 GRCh37: X:13734215-13734218
GRCh38: X:13716096-13716099
12 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs) DEL Pathogenic
11510 rs587776751 GRCh37: X:13734172-13734176
GRCh38: X:13716053-13716057
13 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.93+5G>A SNV Pathogenic
Pathogenic
11512 rs587776752 GRCh37: X:13737985-13737985
GRCh38: X:13719866-13719866
14 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs) MICROSAT Pathogenic
804351 rs1602708047 GRCh37: X:13734205-13734206
GRCh38: X:13716086-13716087
15 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) SNV Pathogenic
11513 rs104894948 GRCh37: X:13734199-13734199
GRCh38: X:13716080-13716080
16 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs) MICROSAT Pathogenic
11508 rs587776749 GRCh37: X:13734699-13734700
GRCh38: X:13716580-13716581
17 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.324+1G>T SNV Likely Pathogenic
997993 rs2046279070 GRCh37: X:13734122-13734122
GRCh38: X:13716003-13716003
18 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.-97G>A SNV Conflicting Interpretations Of Pathogenicity
212743 rs746032983 GRCh37: X:13752240-13752240
GRCh38: X:13734121-13734121
19 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.-19G>T SNV Uncertain Significance
1706552 GRCh37: X:13738101-13738101
GRCh38: X:13719982-13719982
20 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1032T>C SNV Uncertain Significance
913062 rs1412886464 GRCh37: X:13731494-13731494
GRCh38: X:13713375-13713375
21 TRAPPC2 NM_001011658.4(TRAPPC2):c.*989G>T SNV Uncertain Significance
913063 rs1449359101 GRCh37: X:13731537-13731537
GRCh38: X:13713418-13713418
22 TRAPPC2 NM_001011658.4(TRAPPC2):c.*949G>T SNV Uncertain Significance
913422 rs2106707 GRCh37: X:13731577-13731577
GRCh38: X:13713458-13713458
23 TRAPPC2 NM_001011658.4(TRAPPC2):c.*867C>T SNV Uncertain Significance
913423 rs1471265901 GRCh37: X:13731659-13731659
GRCh38: X:13713540-13713540
24 TRAPPC2 NM_001011658.4(TRAPPC2):c.*712A>G SNV Uncertain Significance
913424 rs1276471670 GRCh37: X:13731814-13731814
GRCh38: X:13713695-13713695
25 TRAPPC2 NM_001011658.4(TRAPPC2):c.*690T>C SNV Uncertain Significance
914536 rs1478481249 GRCh37: X:13731836-13731836
GRCh38: X:13713717-13713717
26 TRAPPC2 NM_001011658.4(TRAPPC2):c.*670C>T SNV Uncertain Significance
914537 rs1429642104 GRCh37: X:13731856-13731856
GRCh38: X:13713737-13713737
27 TRAPPC2 NM_001011658.4(TRAPPC2):c.*522G>A SNV Uncertain Significance
914539 rs2046249479 GRCh37: X:13732004-13732004
GRCh38: X:13713885-13713885
28 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1486G>A SNV Uncertain Significance
915018 rs187740735 GRCh37: X:13731040-13731040
GRCh38: X:13712921-13712921
29 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1442C>T SNV Uncertain Significance
915020 rs771455096 GRCh37: X:13731084-13731084
GRCh38: X:13712965-13712965
30 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1436C>T SNV Uncertain Significance
915021 rs192328990 GRCh37: X:13731090-13731090
GRCh38: X:13712971-13712971
31 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1288T>G SNV Uncertain Significance
915023 rs1417991590 GRCh37: X:13731238-13731238
GRCh38: X:13713119-13713119
32 TRAPPC2 NM_001011658.4(TRAPPC2):c.*332C>T SNV Uncertain Significance
915066 rs1448063407 GRCh37: X:13732194-13732194
GRCh38: X:13714075-13714075
33 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr) SNV Uncertain Significance
931726 rs2046291142 GRCh37: X:13734715-13734715
GRCh38: X:13716596-13716596
34 TRAPPC2 NM_001011658.4(TRAPPC2):c.*308G>A SNV Uncertain Significance
912337 rs1457504825 GRCh37: X:13732218-13732218
GRCh38: X:13714099-13714099
35 TRAPPC2 NM_001011658.4(TRAPPC2):c.*263T>C SNV Uncertain Significance
912339 rs377210137 GRCh37: X:13732263-13732263
GRCh38: X:13714144-13714144
36 TRAPPC2 NM_001011658.4(TRAPPC2):c.*187A>T SNV Uncertain Significance
912340 rs1427810998 GRCh37: X:13732339-13732339
GRCh38: X:13714220-13714220
37 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.-19-3T>C SNV Uncertain Significance
912342 rs781420575 GRCh37: X:13738104-13738104
GRCh38: X:13719985-13719985
38 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1287G>T SNV Uncertain Significance
913060 rs1165831875 GRCh37: X:13731239-13731239
GRCh38: X:13713120-13713120
39 TRAPPC2 NM_001011658.4(TRAPPC2):c.*179A>T SNV Uncertain Significance
367995 rs1057515796 GRCh37: X:13732347-13732347
GRCh38: X:13714228-13714228
40 TRAPPC2 NM_001011658.4(TRAPPC2):c.*2060G>A SNV Uncertain Significance
367965 rs1057515788 GRCh37: X:13730466-13730466
GRCh38: X:13712347-13712347
41 OFD1, TRAPPC2 NM_001011658.4(TRAPPC2):c.-179G>C SNV Uncertain Significance
367996 rs1057515797 GRCh37: X:13752661-13752661
GRCh38: X:13734542-13734542
42 TRAPPC2 NM_001011658.4(TRAPPC2):c.*243G>T SNV Uncertain Significance
367994 rs1057515795 GRCh37: X:13732283-13732283
GRCh38: X:13714164-13714164
43 TRAPPC2 NM_001011658.4(TRAPPC2):c.*1191C>T SNV Uncertain Significance
367972 rs1057515789 GRCh37: X:13731335-13731335
GRCh38: X:13713216-13713216
44 TRAPPC2 NM_001011658.4(TRAPPC2):c.*703G>A SNV Uncertain Significance
367984 rs554971161 GRCh37: X:13731823-13731823
GRCh38: X:13713704-13713704
45 TRAPPC2 NM_001011658.4(TRAPPC2):c.*465T>G SNV Uncertain Significance
367987 rs780841342 GRCh37: X:13732061-13732061
GRCh38: X:13713942-13713942
46 TRAPPC2 NM_001011658.4(TRAPPC2):c.*752A>G SNV Uncertain Significance
367982 rs1057515791 GRCh37: X:13731774-13731774
GRCh38: X:13713655-13713655
47 TRAPPC2 NM_001011658.4(TRAPPC2):c.*942G>T SNV Uncertain Significance
367979 rs768568672 GRCh37: X:13731584-13731584
GRCh38: X:13713465-13713465
48 TRAPPC2 NM_001011658.4(TRAPPC2):c.*435A>G SNV Uncertain Significance
367988 rs368897746 GRCh37: X:13732091-13732091
GRCh38: X:13713972-13713972
49 TRAPPC2 NM_001011658.4(TRAPPC2):c.*323T>G SNV Uncertain Significance
367991 rs1057515792 GRCh37: X:13732203-13732203
GRCh38: X:13714084-13714084
50 TRAPPC2 NM_001011658.4(TRAPPC2):c.*710T>C SNV Likely Benign
367983 rs141763219 GRCh37: X:13731816-13731816
GRCh38: X:13713697-13713697

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 10.66 OFD1 SEC23A TRAPPC1 TRAPPC10 TRAPPC11 TRAPPC12
2 cytoplasm GO:0005737 10.61 DYM OFD1 SEC23A TRAPPC1 TRAPPC10 TRAPPC11
3 endoplasmic reticulum GO:0005783 10.36 SAR1A SEC23A TRAPPC1 TRAPPC2 TRAPPC2B TRAPPC2L
4 Golgi apparatus GO:0005794 10.28 DYM SAR1A TRAPPC1 TRAPPC10 TRAPPC11 TRAPPC12
5 TRAPPIII protein complex GO:1990072 10.23 TRAPPC2 TRAPPC13 TRAPPC12 TRAPPC11 TRAPPC1 TRAPPC2B
6 TRAPP complex GO:0030008 10.1 TRAPPC9 TRAPPC8 TRAPPC6B TRAPPC6A TRAPPC5 TRAPPC4
7 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 10.01 TRAPPC12 TRAPPC2 TRAPPC2B TRIP11
8 cis-Golgi network GO:0005801 9.91 TRIP11 TRAPPC6B TRAPPC6A
9 COPII vesicle coat GO:0030127 9.78 SEC23A SAR1A
10 TRAPPII protein complex GO:1990071 9.66 TRAPPC1 TRAPPC10 TRAPPC13 TRAPPC2 TRAPPC2B TRAPPC2L

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum to Golgi vesicle-mediated transport GO:0006888 10.56 TRAPPC9 TRIP11 TRAPPC8 TRAPPC6B TRAPPC6A TRAPPC5
2 vesicle tethering GO:0099022 10.33 TRAPPC1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC13 TRAPPC2
3 vesicle-mediated transport GO:0016192 10.13 SAR1A SEC23A TRAPPC1 TRAPPC10 TRAPPC11 TRAPPC12
4 Golgi organization GO:0007030 10.1 TRIP11 TRAPPC8 TRAPPC12 TRAPPC11 DYM
5 COPII vesicle coating GO:0048208 10 TRAPPC8 TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3 TRAPPC2L
6 Golgi vesicle transport GO:0048193 9.91 TRAPPC6B TRAPPC6A TRAPPC5 TRAPPC4 TRAPPC3 TRAPPC10
7 COPII-coated vesicle cargo loading GO:0090110 9.73 SEC23A SAR1A
8 vesicle coating GO:0006901 9.66 TRAPPC9 TRAPPC6B TRAPPC5 TRAPPC4 TRAPPC3 TRAPPC2L

Sources for Spondyloepiphyseal Dysplasia Tarda, X-Linked

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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