MCID: SPN411
MIFTS: 44

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

Name: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 57
Spondyloepimetaphyseal Dysplasia 57 12 76 13 6 15
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 53 29 6 40
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 53 75
Semd, Matn3-Related 57 59
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 75
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 59
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 75
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 75
Spondyloepimetaphyseal Dysplasia Matn3-Related 75
Dysplasia, Spondyloepimetaphyseal 40
Spondyloepimetaphyseal Disorder 73
Matrilin-3 Related Semd 75
Semd, Matrilin-3 Type 59
Semd Matrilin-3 Type 75
Semd Matn3-Related 53
Semd-Matn3 75

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, matrilin-3 type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Miscellaneous:
waddling gait
allelic to multiple epiphyseal dysplasia, type 5 and hand osteoarthritis

Inheritance:
autosomal recessive


HPO:

32
spondyloepimetaphyseal dysplasia, matrilin-3 related:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608728
Disease Ontology 12 DOID:0080027
Orphanet 59 ORPHA156728
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 74 C1837481
MedGen 42 C1837481
MeSH 44 D001848
UMLS 73 C0432211

Summaries for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

NIH Rare Diseases : 53 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, vertebral column and epiphysis, and related phenotypes are pectus excavatum and flat face

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 : 75 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 : 76 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 46)
# 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 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 CHST3 COL2A1 SMARCAL1 TRAPPC2
4 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.5
5 spondyloepimetaphyseal dysplasia, missouri type 12.5
6 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.4
7 spondyloepimetaphyseal dysplasia, x-linked 12.4
8 spondyloepimetaphyseal dysplasia, faden-alkuraya type 12.3
9 spondyloepimetaphyseal dysplasia, aggrecan type 12.3
10 spondyloepimetaphyseal dysplasia, shohat type 12.3
11 spondyloepimetaphyseal dysplasia, genevieve type 12.3
12 spondyloepimetaphyseal dysplasia, sponastrime type 12.3
13 spondyloepimetaphyseal dysplasia joint laxity 12.2
14 spondyloepimetaphyseal dysplasia, di rocco type 12.2
15 spondyloepimetaphyseal dysplasia with multiple dislocations 12.2
16 spondyloepimetaphyseal dysplasia with hypotrichosis 12.0
17 spondyloepimetaphyseal dysplasia, irapa type 12.0
18 spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration 12.0
19 spondyloepimetaphyseal dysplasia with abnormal dentition 12.0
20 spondyloepimetaphyseal dysplasia, micromelic 12.0
21 spondyloepimetaphyseal dysplasia, isidor type 11.9
22 spondylometaepiphyseal dysplasia, short limb-hand type 11.9
23 anauxetic dysplasia 1 11.6
24 handigodu joint disease 11.6
25 dyggve-melchior-clausen disease 11.1
26 anauxetic dysplasia 2 11.1
27 metatropic dysplasia 11.0
28 hypotrichosis 8 10.4 COL2A1 MATN3
29 achondrogenesis, type ii 10.3 COL2A1 SEMA3A
30 hypochondrogenesis 10.3 COL2A1 SEMA3A
31 kniest dysplasia 10.2 COL2A1 SEMA3A
32 bone development disease 10.1 COL2A1 MATN3 SMARCAL1
33 spondyloepiphyseal dysplasia congenita 10.1 COL2A1 SEMA3A
34 brachyolmia 10.1 COL2A1 PAPSS2
35 multiple epiphyseal dysplasia 10.1 COL2A1 MATN3
36 retinal detachment 9.9
37 aging 9.9
38 scoliosis 9.9
39 laryngitis 9.9
40 retinitis 9.9
41 hypotrichosis 9.9
42 mitochondrial metabolism disease 9.9
43 mitochondrial disorders 9.9
44 dysspondyloenchondromatosis 9.9
45 osteochondrodysplasia 9.7 COL2A1 DYM
46 skeletal dysplasias 9.3 COL2A1 MATN3 PAPSS2 TRAPPC2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 flat face 59 32 occasional (7.5%) Occasional (29-5%) HP:0012368
3 disproportionate short-limb short stature 59 32 frequent (33%) Frequent (79-30%) HP:0008873
4 thoracic hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005257
5 lumbar hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0002938
6 limited elbow extension 59 32 frequent (33%) Frequent (79-30%) HP:0001377
7 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
8 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826
9 bowing of the legs 59 32 hallmark (90%) Very frequent (99-80%) HP:0002979
10 enlarged joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0003037
11 short stature 59 Very frequent (99-80%)
12 ovoid vertebral bodies 32 HP:0003300
13 platyspondyly 32 HP:0000926
14 micromelia 32 HP:0002983
15 short long bone 32 HP:0003026
16 flat acetabular roof 32 HP:0003180
17 narrow iliac wings 32 HP:0002868
18 hypoplastic pubic bone 32 HP:0003173
19 small epiphyses 32 HP:0010585
20 irregular epiphyses 32 HP:0010582
21 metaphyseal widening 32 HP:0003016
22 spondyloepimetaphyseal dysplasia 32 HP:0002651
23 posterior rib cupping 32 HP:0000922
24 dysplastic iliac wings 32 HP:0008794
25 metaphyseal spurs 32 HP:0005054

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 COL2A1 DYM MATN3 PAPSS2
2 skeleton MP:0005390 9.17 CHST3 COL2A1 DYM MATN3 PAPSS2 SEMA3A

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 29 MATN3

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

41
Bone

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

19
Vertebral Column, Epiphysis, Metaphysis

Publications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Articles related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

(show all 36)
# Title Authors Year
1
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. ( 28892125 )
2017
2
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. ( 28263186 )
2017
3
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. ( 27102849 )
2016
4
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. ( 27236923 )
2016
5
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ( 27245527 )
2016
6
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). ( 26250472 )
2015
7
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. ( 25383842 )
2014
8
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ( 24766538 )
2014
9
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ( 25256152 )
2014
10
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. ( 23956136 )
2013
11
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ( 23665482 )
2013
12
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. ( 23633440 )
2013
13
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. ( 21818555 )
2011
14
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ( 22152677 )
2011
15
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ( 19277648 )
2009
16
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ( 18841068 )
2008
17
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. ( 18256824 )
2008
18
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. ( 17676604 )
2007
19
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. ( 17090519 )
2006
20
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. ( 16280719 )
2006
21
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. ( 15727611 )
2005
22
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). ( 16167086 )
2005
23
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. ( 16088915 )
2005
24
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. ( 15726110 )
2005
25
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? ( 15194947 )
2004
26
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. ( 14755468 )
2004
27
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. ( 12966527 )
2003
28
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ( 12784311 )
2003
29
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. ( 12925722 )
2003
30
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. ( 12205110 )
2002
31
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. ( 9771708 )
1998
32
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. ( 9714015 )
1998
33
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. ( 9678701 )
1998
34
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). ( 8723096 )
1996
35
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. ( 7550321 )
1995
36
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. ( 2363424 )
1990

Variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

75
# 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 Likely benign rs2298258 GRCh37 Chromosome 1, 162737116: 162737116
6 DDR2 NM_006182.3(DDR2): c.1260C> G (p.Leu420=) single nucleotide variant 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 GRCh37 Chromosome 1, 162729630: 162729630
8 DDR2 NM_006182.3(DDR2): c.716T> C (p.Leu239Pro) single nucleotide variant Uncertain significance rs578015216 GRCh38 Chromosome 1, 162759840: 162759840
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 GRCh37 Chromosome 1, 162750113: 162750113
12 DDR2 NM_006182.3(DDR2): c.*77C> G single nucleotide variant Uncertain significance rs886045499 GRCh38 Chromosome 1, 162780323: 162780323
13 DDR2 NM_006182.3(DDR2): c.*173_*174delAC deletion Uncertain significance rs886045500 GRCh37 Chromosome 1, 162750209: 162750210
14 DDR2 NM_006182.3(DDR2): c.*173_*174delAC deletion Uncertain significance rs886045500 GRCh38 Chromosome 1, 162780419: 162780420
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 GRCh38 Chromosome 1, 162780288: 162780288
32 DDR2 NM_006182.3(DDR2): c.*42C> A single nucleotide variant Uncertain significance rs886045498 GRCh37 Chromosome 1, 162750078: 162750078
33 DDR2 NM_006182.3(DDR2): c.-27-11G> C single nucleotide variant Uncertain significance rs180854216 GRCh37 Chromosome 1, 162688816: 162688816
34 DDR2 NM_006182.3(DDR2): c.-27-11G> C single nucleotide variant Uncertain significance rs180854216 GRCh38 Chromosome 1, 162719026: 162719026
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 GRCh37 Chromosome 1, 162750223: 162750224
42 DDR2 NM_006182.3(DDR2): c.*187_*188delTT deletion Benign rs5778295 GRCh38 Chromosome 1, 162780433: 162780434
43 DDR2 NM_006182.3(DDR2): c.*188delT deletion Uncertain significance rs886045501 GRCh37 Chromosome 1, 162750224: 162750224
44 DDR2 NM_006182.3(DDR2): c.*188delT deletion Uncertain significance rs886045501 GRCh38 Chromosome 1, 162780434: 162780434
45 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh37 Chromosome 11, 102814110: 102814110
46 MMP13 NM_002427.3(MMP13): c.*885A> G single nucleotide variant Benign rs1042840 GRCh38 Chromosome 11, 102943381: 102943381
47 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh37 Chromosome 11, 102814146: 102814146
48 MMP13 NM_002427.3(MMP13): c.*849dupT duplication Uncertain significance rs886047552 GRCh38 Chromosome 11, 102943417: 102943417
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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL2A1 MATN3

Sources for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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