Spondyloepiphyseal Dysplasia Tarda, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SEDT MCID: SPN405 MIFTS: 37	Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT) Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁵ ⁷³

Spondyloepiphyseal Dysplasia Tarda ⁵⁷ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰

Sedt ⁵⁷ ²⁴ ⁷⁵

X-Linked Spondyloepiphyseal Dysplasia Tarda ²⁴ ²⁵

Sed Tarda, X-Linked ⁵⁷ ²⁴

X-Linked Sed ²⁴ ²⁵

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

X-Linked Sedt 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 313400

MedGen ⁴² C3541456 C0220776

KEGG ³⁷ H00760

SNOMED-CT via HPO ⁶⁹ 95427009 24228002 111266001 more

UMLS ⁷³ C3541456 C0038015

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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 tarda with characteristic facies and spondyloepiphyseal dysplasia tarda, autosomal recessive, 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 liver, 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: NBK1145

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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 78)

#	Related Disease	Score
1	spondyloepiphyseal dysplasia tarda with characteristic facies	12.5
2	spondyloepiphyseal dysplasia tarda, autosomal recessive	12.3
3	spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type	12.3
4	spondyloepiphyseal dysplasia, maroteaux type	11.9
5	spondyloepiphyseal dysplasia congenita	11.5
6	brachyolmia type 1, toledo type	11.5
7	arthropathy, progressive pseudorheumatoid, of childhood	11.4
8	spondyloepiphyseal dysplasia tarda, autosomal dominant	11.3
9	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	11.2
10	spondyloepiphyseal dysplasia, stanescu type	11.2
11	spondyloepiphyseal dysplasia tarda with mental retardation	11.1
12	hereditary sensory and autonomic neuropathy type 1	11.0
13	amnestic disorder	11.0
14	fetal thalidomide syndrome	11.0
15	spondyloepimetaphyseal dysplasia, strudwick type	11.0
16	psychotic disorder	10.8
17	spondyloepiphyseal dysplasia with congenital joint dislocations	10.4
18	arthritis	10.4
19	osteoarthritis	10.4
20	withdrawal disorder	10.3
21	allergic rhinitis	10.2
22	rheumatoid arthritis	10.1
23	cataract	10.1
24	osteochondritis dissecans	10.1
25	brachydactyly	10.1
26	nephrotic syndrome	10.1
27	turner syndrome	10.1
28	paraplegia	10.1
29	juvenile rheumatoid arthritis	10.1
30	pollen allergy	10.1
31	alacrima, achalasia, and mental retardation syndrome	10.1
32	arthropathy	10.1
33	anxiety	10.1
34	dementia	10.1
35	subacute delirium	10.1
36	diabetes mellitus	10.0
37	alcohol dependence	9.8
38	burkitt lymphoma	9.8
39	diabetes mellitus, noninsulin-dependent	9.8
40	attention deficit-hyperactivity disorder	9.8
41	sturge-weber syndrome	9.8
42	varicose veins	9.8
43	vertigo, benign recurrent	9.8
44	joubert syndrome 1	9.8
45	muscular dystrophy, duchenne type	9.8
46	acute insulin response	9.8
47	alcohol abuse	9.8
48	liver cirrhosis	9.8
49	infective endocarditis	9.8
50	lymphoma	9.8

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

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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

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Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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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

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Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

⁴¹

Bone, Liver

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Publications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Articles related to Spondyloepiphyseal Dysplasia Tarda, X-Linked:

(show top 50) (show all 87)

#	Title	Authors	Year
1	A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. ( 30083037 )	Fukuma M...Hasegawa T	2018
2	Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family. ( 27401665 )	Chung S.W....Song Y.W.	2016
3	Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder. ( 27890699 )		2016
4	[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 26252088 )	Wu X....Huang S.	2015
5	Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families. ( 25553839 )		2015
6	A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. ( 26594095 )		2015
7	[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ( 25297591 )	Li J....Zhao L.	2014
8	Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. ( 24862418 )		2014
9	A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree. ( 24841781 )		2014
10	A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 23876379 )	Wang H....Xie J.	2013
11	Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia. ( 23675282 )	Ruyani A....Suherlan .	2012
12	Incidental finding of Tc-99m MDP bone scintigraphy in a case of X-linked spondyloepiphyseal dysplasia tarda. ( 22228351 )	Yang F....Yang J.G.	2012
13	X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree. ( 22563562 )	Ryu H....Ok I.Y.	2012
14	Spondyloepiphyseal dysplasia tarda with progressive arthropathy complicated with paraplegia. ( 21273896 )		2011
15	Large Osteochondral Fracture in a Patient with Bilateral Bicondylar Osteochondritis Dissecans and Spondyloepiphyseal Dysplasia Tarda. ( 26815696 )	Aird J.J....Hughes P.	2010
16	A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ( 19766614 )	Xia X.Y....Huang T.T.	2009
17	Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. ( 19650763 )	Choi M.Y....Tanner J.A.	2009
18	Spondyloepiphyseal dysplasia tarda: four cases from two families. ( 18932001 )	Bal S....Dirim B.	2009
19	A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. ( 19417549 )		2009
20	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 )	Xiong F...He L	2009
21	[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree]. ( 18393234 )	Lin Y....Yang Y.	2008
22	[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 18247296 )		2008
23	Slipped upper femoral epiphysis in a child with spondyloepiphyseal dysplasia tarda: a rare coincidence? ( 19197873 )	Arumilli B.R....George H.	2007
24	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 )	Yang Y....Liao E.	2007
25	Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site. ( 15952107 )	Ma H.W....Niu G.H.	2005
26	[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. ( 16029628 )	Zhou H.D....Liao E.Y.	2005
27	Spondyloepiphyseal dysplasia tarda: description of one case. ( 16681109 )	Di Motta D....Matteucci C.	2005
28	Spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15641278 )	KaptanoA9lu E....TAPrel-ErgA1r A.	2004
29	X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations. ( 14755465 )	Bar-Yosef U....Birk O.S.	2004
30	X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. ( 15221797 )	Fiedler J....Brenner R.E.	2004
31	[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda]. ( 15300622 )	Lu J.F....Liu X.M.	2004
32	Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964 )		2004
33	[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. ( 15631777 )		2004
34	A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. ( 14755466 )	Leroy JG...Spranger JW	2004
35	A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family. ( 12650905 )	Xiao C....Su Z.	2003
36	X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. ( 14624098 )	Fiedler J....Brenner R.E.	2003
37	Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ( 12939648 )	Savarirayan R....GAccz J.	2003
38	[Identification of a novel mutation IVS2-2A--&gt;C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ( 12579492 )	Gao C....Gao T.Z.	2003
39	X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease. ( 14763708 )		2003
40	Spondyloepiphyseal dysplasia tarda simulating juvenile chronic arthritis. ( 14611128 )	Korkmaz C...Kasifoglu T	2003
41	Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men. ( 12123495 )	Fiedler J....Brenner R.E.	2002
42	A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda. ( 12446987 )	Shi Y.R....Tsai F.J.	2002
43	An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda. ( 12030902 )	Takahashi T....Takada G.	2002
44	Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda. ( 12361953 )		2002
45	Spondyloepiphyseal dysplasia tarda: report of one case. ( 12041616 )	Shu SG...Chi CS	2002
46	The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site. ( 11595175 )	Mumm S....Whyte M.P.	2001
47	The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. ( 11349230 )	Gedeon A.K....Mulley J.C.	2001
48	Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. ( 11760838 )	Mumm S....Whyte M.P.	2001
49	Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. ( 11252002 )	Matsui Y....Yoshikawa H.	2001
50	A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. ( 11326333 )	Tiller G.E....Gecz J.	2001

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Genes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRAPPC2	Trafficking Protein Particle Complex 2	Protein Coding	1321.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵	10431248 20301324 11349230 (more) 11326333 11424925 12030902 12446987 12919139 14755465 23656395 10999831 9990351 19002213 11252002 18393234 19766614 14755465 10431248 19417549 11760838 12446987

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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

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Expression for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

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Pathways for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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GO Terms for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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Sources for Spondyloepiphyseal Dysplasia Tarda, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

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Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

Characteristics:

OMIM:

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Summaries for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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:

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

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

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Genes for Spondyloepiphyseal Dysplasia Tarda, X-Linked

Genes related to Spondyloepiphyseal Dysplasia Tarda, X-Linked (1 elite genes):

Variations for Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

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

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