SEMD-MATN3
MCID: SPN411
MIFTS: 44

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (SEMD-MATN3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

Name: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 58
Spondyloepimetaphyseal Dysplasia 58 12 77 38 13 6 15
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 54 30 6 41
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 54 76
Semd, Matn3-Related 58 60
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 76
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 60
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 76
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 76
Spondyloepimetaphyseal Dysplasia Matn3-Related 76
Dysplasia, Spondyloepimetaphyseal 41
Spondyloepimetaphyseal Disorder 74
Matrilin-3 Related Semd 76
Semd, Matrilin-3 Type 60
Semd Matrilin-3 Type 76
Semd Matn3-Related 54
Semd-Matn3 76

Characteristics:

Orphanet epidemiological data:

60
spondyloepimetaphyseal dysplasia, matrilin-3 type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Miscellaneous:
waddling gait
allelic to multiple epiphyseal dysplasia, type 5 and hand osteoarthritis

Inheritance:
autosomal recessive


HPO:

33
spondyloepimetaphyseal dysplasia, matrilin-3 related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080027
OMIM 58 608728
KEGG 38 H02187
MeSH 45 D001848
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C1837481
Orphanet 60 ORPHA156728
MedGen 43 C1837481
UMLS 74 C0432211

Summaries for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 156728Disease definitionSpondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.EpidemiologyThe syndrome has been described in a large consanguineous Arab Muslim family.EtiologyIt is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. *Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related, also known as spondyloepimetaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia, strudwick type and brachyolmia type 4 with mild epiphyseal and metaphyseal changes. An important gene associated with Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related is MATN3 (Matrilin 3), and among its related pathways/superpathways is Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, testes and vertebral column, and related phenotypes are limb undergrowth and bowing of the legs

Disease Ontology : 12 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.

UniProtKB/Swiss-Prot : 76 Spondyloepimetaphyseal dysplasia MATN3-related: A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.

Wikipedia : 77 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the... more...

Description from OMIM: 608728

Related Diseases for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Diseases related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 34.3 COL2A1 SEMA3A
2 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 33.4 PAPSS2 SEMA3A
3 dyggve-melchior-clausen disease 31.6 DYM GALNS PAPSS2
4 spondyloepiphyseal dysplasia with congenital joint dislocations 30.6 CHST3 COL2A1 GALNS SMARCAL1 TRAPPC2
5 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.7
6 spondyloepimetaphyseal dysplasia, missouri type 12.7
7 spondyloepimetaphyseal dysplasia, x-linked 12.6
8 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.6
9 spondyloepimetaphyseal dysplasia, faden-alkuraya type 12.6
10 spondyloepimetaphyseal dysplasia, aggrecan type 12.6
11 spondyloepimetaphyseal dysplasia, shohat type 12.6
12 spondyloepimetaphyseal dysplasia, genevieve type 12.6
13 spondyloepimetaphyseal dysplasia, di rocco type 12.6
14 spondyloepimetaphyseal dysplasia, sponastrime type 12.5
15 spondyloepimetaphyseal dysplasia, krakow type 12.5
16 spondyloepimetaphyseal dysplasia with joint laxity, type 3 12.4
17 spondyloepimetaphyseal dysplasia with multiple dislocations 12.4
18 spondyloepimetaphyseal dysplasia joint laxity 12.4
19 spondyloepimetaphyseal dysplasia with hypotrichosis 12.2
20 spondyloepimetaphyseal dysplasia, irapa type 12.2
21 spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration 12.2
22 spondyloepimetaphyseal dysplasia with abnormal dentition 12.2
23 spondyloepimetaphyseal dysplasia, micromelic 12.2
24 spondyloepimetaphyseal dysplasia, isidor type 12.1
25 spondylometaepiphyseal dysplasia, short limb-hand type 11.9
26 anauxetic dysplasia 1 11.9
27 handigodu joint disease 11.8
28 anauxetic dysplasia 2 11.3
29 metatropic dysplasia 11.1
30 spondyloepiphyseal dysplasia tarda, x-linked 11.1
31 skeletal dysplasias 10.2 COL2A1 MATN3
32 hypotrichosis 8 10.1 COL2A1 MATN3
33 cleft palate, isolated 10.1
34 retinal detachment 10.1
35 spondyloepiphyseal dysplasia, maroteaux type 10.1
36 pyle disease 10.1
37 craniosynostosis 10.1
38 brachydactyly 10.1
39 scoliosis 10.1
40 dermatitis 10.1
41 hypotrichosis 10.1
42 dysspondyloenchondromatosis 10.1
43 bone development disease 10.0 COL2A1 MATN3 SMARCAL1
44 achondrogenesis, type ii 10.0 COL2A1 SEMA3A
45 hypochondrogenesis 10.0 COL2A1 SEMA3A
46 multiple epiphyseal dysplasia 9.9 COL2A1 MATN3
47 kniest dysplasia 9.9 COL2A1 GALNS SEMA3A
48 spondyloepiphyseal dysplasia congenita 9.9 COL2A1 GALNS SEMA3A
49 brachyolmia 9.8 COL2A1 GALNS PAPSS2
50 larsen syndrome 9.7 CHST3 GALNS

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:



Diseases related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009826
2 bowing of the legs 60 33 hallmark (90%) Very frequent (99-80%) HP:0002979
3 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
4 disproportionate short-limb short stature 60 33 frequent (33%) Frequent (79-30%) HP:0008873
5 lumbar hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0002938
6 limited elbow extension 60 33 frequent (33%) Frequent (79-30%) HP:0001377
7 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
8 flat face 60 33 occasional (7.5%) Occasional (29-5%) HP:0012368
9 thoracic hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005257
10 enlarged joints 60 33 occasional (7.5%) Occasional (29-5%) HP:0003037
11 short stature 60 Very frequent (99-80%)
12 ovoid vertebral bodies 33 HP:0003300
13 platyspondyly 33 HP:0000926
14 micromelia 33 HP:0002983
15 short long bone 33 HP:0003026
16 flat acetabular roof 33 HP:0003180
17 narrow iliac wings 33 HP:0002868
18 hypoplastic pubic bone 33 HP:0003173
19 small epiphyses 33 HP:0010585
20 irregular epiphyses 33 HP:0010582
21 metaphyseal widening 33 HP:0003016
22 spondyloepimetaphyseal dysplasia 33 HP:0002651
23 posterior rib cupping 33 HP:0000922
24 dysplastic iliac wings 33 HP:0008794
25 metaphyseal spurs 33 HP:0005054

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
flat acetabular roof
narrow iliac wings
hypoplastic pubic bones
underossified ischia
dysplastic iliac wings

Skeletal Limbs:
limited elbow extension
short limbs
bowed legs
short, tubular bones
wide metaphyses with lateral spurs
more
Growth Height:
short-limb dwarfism

Skeletal Spine:
lumbar hyperlordosis
flat oval-shaped vertebral bodies

Chest External Features:
small chest

Chest Ribs Sternum Clavicles And Scapulae:
posterior rib cupping

Clinical features from OMIM:

608728

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 COL2A1 DYM GALNS KIF22 MATN3 SEMA3A
2 renal/urinary system MP:0005367 9.35 COL2A1 DYM GALNS SEMA3A SMARCAL1
3 skeleton MP:0005390 9.23 CHST3 COL2A1 DYM GALNS MATN3 PAPSS2

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 30 MATN3

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

42
Bone, Testes

The Foundational Model of Anatomy Ontology organs/tissues related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

20
Vertebral Column, Epiphysis, Metaphysis

Publications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Articles related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

(show top 50) (show all 61)
# Title Authors Year
1
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. ( 30124491 )
2019
2
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. ( 30358852 )
2019
3
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. ( 30063090 )
2018
4
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. ( 28892125 )
2018
5
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. ( 30488656 )
2018
6
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. ( 28263186 )
2017
7
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. ( 27102849 )
2017
8
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. ( 27236923 )
2016
9
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ( 27245527 )
2016
10
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). ( 26250472 )
2015
11
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. ( 25383842 )
2015
12
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ( 24766538 )
2015
13
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ( 25256152 )
2015
14
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. ( 23633440 )
2013
15
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ( 23665482 )
2013
16
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. ( 23956136 )
2013
17
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. ( 21818555 )
2011
18
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ( 22152677 )
2011
19
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ( 19277648 )
2009
20
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. ( 18256824 )
2008
21
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ( 18841068 )
2008
22
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. ( 17676604 )
2007
23
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. ( 16280719 )
2006
24
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. ( 17090519 )
2006
25
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. ( 15726110 )
2005
26
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. ( 15727611 )
2005
27
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. ( 16088915 )
2005
28
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). ( 16167086 )
2005
29
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. ( 15121775 )
2004
30
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. ( 14755468 )
2004
31
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? ( 15194947 )
2004
32
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. ( 12966527 )
2003
33
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. ( 12567412 )
2003
34
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ( 12784311 )
2003
35
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. ( 12925722 )
2003
36
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. ( 12205110 )
2002
37
Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset. ( 12401991 )
2002
38
Rhizomelic spondyloepimetaphyseal dysplasia. ( 11666005 )
2001
39
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. ( 10319195 )
1999
40
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. ( 10482874 )
1999
41
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. ( 9678701 )
1998
42
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. ( 9714015 )
1998
43
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. ( 9771708 )
1998
44
Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the Ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report. ( 10093811 )
1998
45
Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndrome. ( 9018411 )
1997
46
Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity. ( 9258750 )
1997
47
Aberrant retropharyngeal internal carotid artery in a child with spondyloepimetaphyseal dysplasia and cleft palate. ( 8827392 )
1996
48
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. ( 8669438 )
1996
49
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). ( 8723096 )
1996
50
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. ( 8897044 )
1996

Variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

76
# Symbol AA change Variation ID SNP ID
1 MATN3 p.Cys304Ser VAR_019888 rs104893639

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.910T> A (p.Cys304Ser) single nucleotide variant Pathogenic rs104893639 GRCh37 Chromosome 2, 20202928: 20202928
2 MATN3 NM_002381.4(MATN3): c.910T> A (p.Cys304Ser) single nucleotide variant Pathogenic rs104893639 GRCh38 Chromosome 2, 20003167: 20003167
3 DDR2 NM_006182.3(DDR2): c.720C> T (p.Asp240=) single nucleotide variant Uncertain significance rs141801107 GRCh37 Chromosome 1, 162729634: 162729634
4 DDR2 NM_006182.3(DDR2): c.720C> T (p.Asp240=) single nucleotide variant Uncertain significance rs141801107 GRCh38 Chromosome 1, 162759844: 162759844
5 DDR2 NM_006182.3(DDR2): c.1260C> G (p.Leu420=) single nucleotide variant Benign/Likely benign rs2298258 GRCh37 Chromosome 1, 162737116: 162737116
6 DDR2 NM_006182.3(DDR2): c.1260C> G (p.Leu420=) single nucleotide variant Benign/Likely benign rs2298258 GRCh38 Chromosome 1, 162767326: 162767326
7 DDR2 NM_006182.3(DDR2): c.716T> C (p.Leu239Pro) single nucleotide variant Uncertain significance rs578015216 GRCh38 Chromosome 1, 162759840: 162759840
8 DDR2 NM_006182.3(DDR2): c.716T> C (p.Leu239Pro) single nucleotide variant Uncertain significance rs578015216 GRCh37 Chromosome 1, 162729630: 162729630
9 DDR2 NM_006182.3(DDR2): c.1005G> C (p.Thr335=) single nucleotide variant Uncertain significance rs201957075 GRCh37 Chromosome 1, 162731150: 162731150
10 DDR2 NM_006182.3(DDR2): c.1005G> C (p.Thr335=) single nucleotide variant Uncertain significance rs201957075 GRCh38 Chromosome 1, 162761360: 162761360
11 DDR2 NM_006182.3(DDR2): c.*77C> G single nucleotide variant Uncertain significance rs886045499 GRCh38 Chromosome 1, 162780323: 162780323
12 DDR2 NM_006182.3(DDR2): c.*77C> G single nucleotide variant Uncertain significance rs886045499 GRCh37 Chromosome 1, 162750113: 162750113
13 DDR2 NM_006182.3(DDR2): c.*173_*174delAC deletion Uncertain significance rs886045500 GRCh38 Chromosome 1, 162780419: 162780420
14 DDR2 NM_006182.3(DDR2): c.*173_*174delAC deletion Uncertain significance rs886045500 GRCh37 Chromosome 1, 162750209: 162750210
15 DDR2 NM_006182.3(DDR2): c.-219T> C single nucleotide variant Uncertain significance rs2292335 GRCh38 Chromosome 1, 162632604: 162632604
16 DDR2 NM_006182.3(DDR2): c.-219T> C single nucleotide variant Uncertain significance rs2292335 GRCh37 Chromosome 1, 162602394: 162602394
17 DDR2 NM_006182.3(DDR2): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs149507401 GRCh38 Chromosome 1, 162754821: 162754821
18 DDR2 NM_006182.3(DDR2): c.383G> A (p.Arg128His) single nucleotide variant Uncertain significance rs149507401 GRCh37 Chromosome 1, 162724611: 162724611
19 DDR2 NM_006182.3(DDR2): c.2068A> G (p.Met690Val) single nucleotide variant Uncertain significance rs377626332 GRCh37 Chromosome 1, 162745945: 162745945
20 DDR2 NM_006182.3(DDR2): c.2068A> G (p.Met690Val) single nucleotide variant Uncertain significance rs377626332 GRCh38 Chromosome 1, 162776155: 162776155
21 DDR2 NM_006182.3(DDR2): c.932G> A (p.Ser311Asn) single nucleotide variant Uncertain significance rs189870832 GRCh38 Chromosome 1, 162761287: 162761287
22 DDR2 NM_006182.3(DDR2): c.932G> A (p.Ser311Asn) single nucleotide variant Uncertain significance rs189870832 GRCh37 Chromosome 1, 162731077: 162731077
23 DDR2 NM_006182.3(DDR2): c.1508G> C (p.Cys503Ser) single nucleotide variant Uncertain significance rs573628844 GRCh37 Chromosome 1, 162741817: 162741817
24 DDR2 NM_006182.3(DDR2): c.1508G> C (p.Cys503Ser) single nucleotide variant Uncertain significance rs573628844 GRCh38 Chromosome 1, 162772027: 162772027
25 DDR2 NM_006182.3(DDR2): c.2237G> A (p.Arg746Gln) single nucleotide variant Uncertain significance rs771259035 GRCh37 Chromosome 1, 162746114: 162746114
26 DDR2 NM_006182.3(DDR2): c.2237G> A (p.Arg746Gln) single nucleotide variant Uncertain significance rs771259035 GRCh38 Chromosome 1, 162776324: 162776324
27 DDR2 NM_006182.3(DDR2): c.2253C> T (p.Ile751=) single nucleotide variant Uncertain significance rs768825317 GRCh37 Chromosome 1, 162746130: 162746130
28 DDR2 NM_006182.3(DDR2): c.2253C> T (p.Ile751=) single nucleotide variant Uncertain significance rs768825317 GRCh38 Chromosome 1, 162776340: 162776340
29 DDR2 NM_006182.3(DDR2): c.2397G> C (p.Glu799Asp) single nucleotide variant Uncertain significance rs762649297 GRCh37 Chromosome 1, 162748483: 162748483
30 DDR2 NM_006182.3(DDR2): c.2397G> C (p.Glu799Asp) single nucleotide variant Uncertain significance rs762649297 GRCh38 Chromosome 1, 162778693: 162778693
31 DDR2 NM_006182.3(DDR2): c.*42C> A single nucleotide variant Uncertain significance rs886045498 GRCh37 Chromosome 1, 162750078: 162750078
32 DDR2 NM_006182.3(DDR2): c.*42C> A single nucleotide variant Uncertain significance rs886045498 GRCh38 Chromosome 1, 162780288: 162780288
33 DDR2 NM_006182.3(DDR2): c.-27-11G> C single nucleotide variant Uncertain significance rs180854216 GRCh38 Chromosome 1, 162719026: 162719026
34 DDR2 NM_006182.3(DDR2): c.-27-11G> C single nucleotide variant Uncertain significance rs180854216 GRCh37 Chromosome 1, 162688816: 162688816
35 DDR2 NM_006182.3(DDR2): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs145611112 GRCh38 Chromosome 1, 162755214: 162755214
36 DDR2 NM_006182.3(DDR2): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs145611112 GRCh37 Chromosome 1, 162725004: 162725004
37 DDR2 NM_006182.3(DDR2): c.778C> T (p.Arg260Trp) single nucleotide variant Uncertain significance rs200965319 GRCh38 Chromosome 1, 162759902: 162759902
38 DDR2 NM_006182.3(DDR2): c.778C> T (p.Arg260Trp) single nucleotide variant Uncertain significance rs200965319 GRCh37 Chromosome 1, 162729692: 162729692
39 DDR2 NM_006182.3(DDR2): c.1142C> G (p.Pro381Arg) single nucleotide variant Uncertain significance rs753466072 GRCh37 Chromosome 1, 162735833: 162735833
40 DDR2 NM_006182.3(DDR2): c.1142C> G (p.Pro381Arg) single nucleotide variant Uncertain significance rs753466072 GRCh38 Chromosome 1, 162766043: 162766043
41 DDR2 NM_006182.3(DDR2): c.*187_*188delTT deletion Benign rs5778295 GRCh38 Chromosome 1, 162780433: 162780434
42 DDR2 NM_006182.3(DDR2): c.*187_*188delTT deletion Benign rs5778295 GRCh37 Chromosome 1, 162750223: 162750224
43 DDR2 NM_006182.3(DDR2): c.*188delT deletion Uncertain significance rs5778295 GRCh38 Chromosome 1, 162780434: 162780434
44 DDR2 NM_006182.3(DDR2): c.*188delT deletion Uncertain significance rs5778295 GRCh37 Chromosome 1, 162750224: 162750224
45 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh38 Chromosome 11, 102943381: 102943381
46 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh37 Chromosome 11, 102814110: 102814110
47 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh38 Chromosome 11, 102943417: 102943417
48 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh37 Chromosome 11, 102814146: 102814146
49 MMP13 NM_002427.3(MMP13): c.*436G> C single nucleotide variant Uncertain significance rs886047555 GRCh37 Chromosome 11, 102814559: 102814559
50 MMP13 NM_002427.3(MMP13): c.*436G> C single nucleotide variant Uncertain significance rs886047555 GRCh38 Chromosome 11, 102943830: 102943830

Expression for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related.

Pathways for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Pathways related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 CHST3 COL2A1

GO Terms for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Biological processes related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chondroitin sulfate biosynthetic process GO:0030206 9.16 B3GALT6 CHST3
2 bone development GO:0060348 9.13 COL2A1 DYM PAPSS2
3 skeletal system development GO:0001501 8.92 COL2A1 MATN3 PAPSS2 TRAPPC2

Sources for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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