SEMD-MATN3
MCID: SPN411
MIFTS: 48

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 56
Spondyloepimetaphyseal Dysplasia 56 12 74 36 13 6 15
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 52 29 6 39
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 52 73
Semd, Matn3-Related 56 58
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 73
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 58
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 73
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 73
Spondyloepimetaphyseal Dysplasia Matn3-Related 73
Dysplasia, Spondyloepimetaphyseal 39
Spondyloepimetaphyseal Disorder 71
Matrilin-3 Related Semd 73
Semd, Matrilin-3 Type 58
Semd Matrilin-3 Type 73
Semd Matn3-Related 52
Semd-Matn3 73

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, matrilin-3 type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Miscellaneous:
waddling gait
allelic to multiple epiphyseal dysplasia, type 5 and hand osteoarthritis

Inheritance:
autosomal recessive


HPO:

31
spondyloepimetaphyseal dysplasia, matrilin-3 related:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080027
OMIM 56 608728
KEGG 36 H02187
MeSH 43 D001848
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C1837481
Orphanet 58 ORPHA156728
MedGen 41 C1837481
UMLS 71 C0432211

Summaries for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 156728 Definition Spondyloepimetaphyseal 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. Epidemiology The syndrome has been described in a large consanguineous Arab Muslim family. Etiology It 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 spondyloepimetaphyseal dysplasia, missouri type. 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 vertebral column, epiphysis and metaphysis, 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.

KEGG : 36 Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia.

UniProtKB/Swiss-Prot : 73 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 : 74 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the... more...

More information 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 top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 35.0 SEMA3A COL2A1
2 spondyloepimetaphyseal dysplasia, missouri type 34.5 SEMA3A ACAN
3 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 34.3 SEMA3A PAPSS2
4 dyggve-melchior-clausen disease 33.3 TRAPPC2 GALNS DYM
5 spondyloepiphyseal dysplasia tarda, x-linked 32.5 TRAPPC2B TRAPPC2 MIA2 CCN6
6 spondyloepiphyseal dysplasia with congenital joint dislocations 31.6 TRAPPC2B TRAPPC2 SMARCAL1 SEMA3A RNU6ATAC RNU4ATAC
7 skeletal dysplasias 31.3 MATN3 COL2A1
8 pyle disease 31.2 GALNS DYM COL2A1
9 brachydactyly 30.9 RNU6ATAC RNU4ATAC PAPSS2 COL2A1 ACAN
10 kniest dysplasia 30.7 SEMA3A GALNS COL2A1
11 stickler syndrome 30.7 MATN3 COL2A1 ACAN
12 scoliosis 30.7 KIF22 COL2A1 CCN6 ACAN
13 pseudoachondroplasia 30.7 MATN3 COL2A1 ACAN
14 achondrogenesis, type ii 30.7 SEMA3A COL2A1 ACAN
15 spondyloepiphyseal dysplasia congenita 30.6 TRAPPC2B TRAPPC2 MATN3 GALNS DYM COL2A1
16 larsen syndrome 30.5 PAPSS2 GALNS CHST3 B3GALT6
17 achondrogenesis 30.5 TRAPPC2B TRAPPC2 MATN3 COL2A1 ACAN
18 hypochondrogenesis 30.4 TRAPPC2B TRAPPC2 SEMA3A COL2A1 ACAN
19 multiple epiphyseal dysplasia 30.3 TRAPPC2 PAPSS2 MATN3 LOC101928222 COL2A1 ACAN
20 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.8
21 spondyloepimetaphyseal dysplasia, sponastrime type 12.8
22 spondyloepimetaphyseal dysplasia, genevieve type 12.8
23 spondyloepimetaphyseal dysplasia, aggrecan type 12.8
24 spondyloepimetaphyseal dysplasia, faden-alkuraya type 12.8
25 spondyloepimetaphyseal dysplasia, shohat type 12.7
26 spondyloepimetaphyseal dysplasia, di rocco type 12.7
27 spondyloepimetaphyseal dysplasia, x-linked 12.7
28 spondyloepimetaphyseal dysplasia with multiple dislocations 12.7
29 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.7
30 spondyloepimetaphyseal dysplasia with hypotrichosis 12.7
31 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 12.6
32 spondyloepimetaphyseal dysplasia, krakow type 12.6
33 spondyloepimetaphyseal dysplasia with joint laxity, type 3 12.6
34 spondyloepimetaphyseal dysplasia joint laxity 12.6
35 spondyloepimetaphyseal dysplasia with abnormal dentition 12.5
36 spondyloepimetaphyseal dysplasia, irapa type 12.3
37 spondyloepimetaphyseal dysplasia, micromelic 12.3
38 spondyloepimetaphyseal dysplasia x-linked with mental deterioration 12.3
39 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 12.3
40 spondylometaepiphyseal dysplasia, short limb-hand type 12.3
41 obsolete: spondyloepimetaphyseal dysplasia 12.2
42 spondyloepimetaphyseal dysplasia, isidor type 12.2
43 handigodu joint disease 12.1
44 anauxetic dysplasia 1 12.0
45 metatropic dysplasia 11.7
46 anauxetic dysplasia 2 11.4
47 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.3
48 patellofemoral pain syndrome 10.6 TRAPPC2B TRAPPC2
49 epiphyseal dysplasia, multiple, 1 10.5 MIA2 MATN3
50 scheuermann disease 10.5 COL2A1 CCN6

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
2 bowing of the legs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002979
3 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
4 disproportionate short-limb short stature 58 31 frequent (33%) Frequent (79-30%) HP:0008873
5 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
6 limited elbow extension 58 31 frequent (33%) Frequent (79-30%) HP:0001377
7 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
8 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
9 thoracic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005257
10 enlarged joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0003037
11 short stature 58 Very frequent (99-80%)
12 ovoid vertebral bodies 31 HP:0003300
13 platyspondyly 31 HP:0000926
14 micromelia 31 HP:0002983
15 short long bone 31 HP:0003026
16 flat acetabular roof 31 HP:0003180
17 narrow iliac wings 31 HP:0002868
18 hypoplastic pubic bone 31 HP:0003173
19 small epiphyses 31 HP:0010585
20 irregular epiphyses 31 HP:0010582
21 metaphyseal widening 31 HP:0003016
22 spondyloepimetaphyseal dysplasia 31 HP:0002651
23 posterior rib cupping 31 HP:0000922
24 metaphyseal spurs 31 HP:0005054
25 dysplastic iliac wings 31 HP:0008794

Symptoms via clinical synopsis from OMIM:

56
Skeletal Pelvis:
flat acetabular roof
narrow iliac wings
dysplastic iliac wings
hypoplastic pubic bones
underossified ischia

Skeletal Limbs:
limited elbow extension
short limbs
bowed legs
short, tubular bones
wide metaphyses with lateral spurs
more
Chest External Features:
small chest

Skeletal Spine:
lumbar hyperlordosis
flat oval-shaped vertebral bodies

Chest Ribs Sternum Clavicles And Scapulae:
posterior rib cupping

Growth Height:
short-limb dwarfism

Clinical features from OMIM:

608728

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

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

19
Vertebral Column, Epiphysis, Metaphysis

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

40
Bone, Skin, Testes

Publications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

Articles related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. 6 56
15121775 2004
2
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 61
31724101 2019
3
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 61
31630789 2019
4
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 61
30358852 2019
5
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 61
30488656 2019
6
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
7
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. 61
30124491 2019
8
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 61
29931299 2018
9
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
10
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 61
29464738 2018
11
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. 61
29443383 2018
12
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 61
28892125 2018
13
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 61
29230159 2017
14
Novel pathogenic ACAN variants in non-syndromic short stature patients. 61
28396070 2017
15
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. 61
28328135 2017
16
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 61
28263186 2017
17
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 61
27888646 2017
18
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
19
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 61
27102849 2017
20
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 61
26669664 2016
21
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. 61
27353333 2016
22
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. 61
27236923 2016
23
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 61
27245527 2016
24
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
25
Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress. 61
26499313 2015
26
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. 61
26365341 2015
27
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. 61
25652408 2015
28
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 61
24766538 2015
29
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 61
25256152 2015
30
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. 61
28649518 2015
31
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
32
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. 61
26582078 2015
33
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells. 61
25196597 2014
34
Occipitocervical fusion in skeletal dysplasia: a new surgical technique. 61
24825152 2014
35
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
36
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. 61
24300288 2014
37
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis. 61
24575553 2013
38
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. 61
24223250 2013
39
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 61
23956136 2013
40
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 61
23665482 2013
41
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. 61
23633440 2013
42
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 61
23664117 2013
43
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 61
23664118 2013
44
The different roles of aggrecan interaction domains. 61
23019016 2012
45
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
46
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 61
22152677 2011
47
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 61
22152678 2011
48
Trilogy of gastrointestinal atresias: a case report and review of the literature. 61
22152889 2011
49
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? 61
22570642 2011
50
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. 61
21818555 2011

Variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MATN3 NM_002381.5(MATN3):c.910T>A (p.Cys304Ser)SNV Pathogenic 7544 rs104893639 2:20202928-20202928 2:20003167-20003167
2 RPL13 NM_000977.3(RPL13):c.477+1G>ASNV Pathogenic 689802 16:89628800-89628800 16:89562392-89562392
3 RPL13 NM_000977.3(RPL13):c.477+1G>TSNV Pathogenic 689800 16:89628800-89628800 16:89562392-89562392
4 RPL13 NM_000977.3(RPL13):c.477+2T>CSNV Pathogenic 689801 16:89628801-89628801 16:89562393-89562393
5 RPL13 NM_000977.3(RPL13):c.548G>T (p.Arg183Leu)SNV Pathogenic 689803 16:89629362-89629362 16:89562954-89562954
6 MMP13 NM_002427.4(MMP13):c.*374_*376dupduplication Uncertain significance 301969 rs886047556 11:102814619-102814621 11:102943890-102943892
7 MMP13 NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly)SNV Uncertain significance 301978 rs145425594 11:102818749-102818749 11:102948020-102948020
8 MMP13 NM_002427.4(MMP13):c.*1102T>CSNV Uncertain significance 301959 rs886047550 11:102813893-102813893 11:102943164-102943164
9 MMP13 NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe)SNV Uncertain significance 301977 rs886047557 11:102818708-102818708 11:102947979-102947979
10 MMP13 NM_002427.4(MMP13):c.951T>G (p.Asp317Glu)SNV Uncertain significance 301982 rs367612153 11:102819854-102819854 11:102949125-102949125
11 MMP13 NM_002427.4(MMP13):c.997C>T (p.Arg333Cys)SNV Uncertain significance 301980 rs782152104 11:102819808-102819808 11:102949079-102949079
12 DDR2 NM_006182.4(DDR2):c.720C>T (p.Asp240=)SNV Uncertain significance 198839 rs141801107 1:162729634-162729634 1:162759844-162759844
13 DDR2 NM_006182.4(DDR2):c.*188deldeletion Uncertain significance 293387 rs5778295 1:162750224-162750224 1:162780434-162780434
14 MMP13 NM_002427.4(MMP13):c.*849dupduplication Uncertain significance 301963 rs886047552 11:102814146-102814146 11:102943417-102943417
15 MMP13 NM_002427.4(MMP13):c.*436G>CSNV Uncertain significance 301967 rs886047555 11:102814559-102814559 11:102943830-102943830
16 MMP13 NM_002427.4(MMP13):c.*275T>CSNV Uncertain significance 301971 rs781825443 11:102814720-102814720 11:102943991-102943991
17 MMP13 NM_002427.4(MMP13):c.686G>T (p.Gly229Val)SNV Uncertain significance 301988 rs782723542 11:102822854-102822854 11:102952125-102952125
18 MMP13 NM_002427.4(MMP13):c.*1007T>CSNV Uncertain significance 301960 rs886047551 11:102813988-102813988 11:102943259-102943259
19 MMP13 NM_002427.4(MMP13):c.*771T>GSNV Uncertain significance 301964 rs886047553 11:102814224-102814224 11:102943495-102943495
20 MMP13 NM_002427.4(MMP13):c.*756A>GSNV Uncertain significance 301965 rs886047554 11:102814239-102814239 11:102943510-102943510
21 DDR2 NM_006182.4(DDR2):c.*171_*172AC[1]short repeat Uncertain significance 293386 rs886045500 1:162750209-162750210 1:162780419-162780420
22 DDR2 NM_006182.4(DDR2):c.716T>C (p.Leu239Pro)SNV Uncertain significance 293374 rs578015216 1:162729630-162729630 1:162759840-162759840
23 DDR2 NM_006182.4(DDR2):c.1005G>C (p.Thr335=)SNV Uncertain significance 293377 rs201957075 1:162731150-162731150 1:162761360-162761360
24 DDR2 NM_006182.4(DDR2):c.*77C>GSNV Uncertain significance 293385 rs886045499 1:162750113-162750113 1:162780323-162780323
25 DDR2 NM_006182.4(DDR2):c.-219T>CSNV Uncertain significance 293370 rs2292335 1:162602394-162602394 1:162632604-162632604
26 DDR2 NM_006182.4(DDR2):c.383G>A (p.Arg128His)SNV Uncertain significance 293372 rs149507401 1:162724611-162724611 1:162754821-162754821
27 DDR2 NM_006182.4(DDR2):c.2068A>G (p.Met690Val)SNV Uncertain significance 293380 rs377626332 1:162745945-162745945 1:162776155-162776155
28 DDR2 NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)SNV Uncertain significance 293376 rs189870832 1:162731077-162731077 1:162761287-162761287
29 DDR2 NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser)SNV Uncertain significance 293379 rs573628844 1:162741817-162741817 1:162772027-162772027
30 DDR2 NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln)SNV Uncertain significance 293381 rs771259035 1:162746114-162746114 1:162776324-162776324
31 DDR2 NM_006182.4(DDR2):c.2253C>T (p.Ile751=)SNV Uncertain significance 293382 rs768825317 1:162746130-162746130 1:162776340-162776340
32 DDR2 NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp)SNV Uncertain significance 293383 rs762649297 1:162748483-162748483 1:162778693-162778693
33 DDR2 NM_006182.4(DDR2):c.*42C>ASNV Uncertain significance 293384 rs886045498 1:162750078-162750078 1:162780288-162780288
34 DDR2 NM_006182.4(DDR2):c.-27-11G>CSNV Uncertain significance 293371 rs180854216 1:162688816-162688816 1:162719026-162719026
35 DDR2 NM_006182.4(DDR2):c.476T>C (p.Ile159Thr)SNV Uncertain significance 293373 rs145611112 1:162725004-162725004 1:162755214-162755214
36 DDR2 NM_006182.4(DDR2):c.778C>T (p.Arg260Trp)SNV Uncertain significance 293375 rs200965319 1:162729692-162729692 1:162759902-162759902
37 DDR2 NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg)SNV Uncertain significance 293378 rs753466072 1:162735833-162735833 1:162766043-162766043
38 MMP13 NM_002427.4(MMP13):c.*628A>GSNV Likely benign 301966 rs114428333 11:102814367-102814367 11:102943638-102943638
39 MMP13 NM_002427.4(MMP13):c.*426A>GSNV Likely benign 301968 rs182315436 11:102814569-102814569 11:102943840-102943840
40 MMP13 NM_002427.4(MMP13):c.*314T>CSNV Likely benign 301970 rs17860584 11:102814681-102814681 11:102943952-102943952
41 MMP13 NM_002427.4(MMP13):c.*160G>ASNV Likely benign 301973 rs17860583 11:102814835-102814835 11:102944106-102944106
42 MMP13 NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly)SNV Likely benign 301976 rs17860568 11:102818662-102818662 11:102947933-102947933
43 MMP13 NM_002427.4(MMP13):c.138C>T (p.Tyr46=)SNV Likely benign 301991 rs200537937 11:102826205-102826205 11:102955476-102955476
44 MMP13 NM_002427.4(MMP13):c.770A>T (p.Asp257Val)SNV Likely benign 301987 rs140993310 11:102822770-102822770 11:102952041-102952041
45 MMP13 NM_002427.4(MMP13):c.*1219A>CSNV Likely benign 301958 rs188511209 11:102813776-102813776 11:102943047-102943047
46 MMP13 NM_002427.4(MMP13):c.*264C>TSNV Likely benign 301972 rs555759372 11:102814731-102814731 11:102944002-102944002
47 MMP13 NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)SNV Likely benign 301974 rs142064825 11:102815039-102815039 11:102944310-102944310
48 MMP13 NM_002427.4(MMP13):c.1315+15T>CSNV Likely benign 301975 rs373735518 11:102816360-102816360 11:102945631-102945631
49 MMP13 NM_002427.4(MMP13):c.1080T>C (p.Tyr360=)SNV Likely benign 301979 rs61737008 11:102818751-102818751 11:102948022-102948022
50 MMP13 NM_002427.4(MMP13):c.968C>T (p.Thr323Met)SNV Likely benign 301981 rs185832993 11:102819837-102819837 11:102949108-102949108

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

73
# Symbol AA change Variation ID SNP ID
1 MATN3 p.Cys304Ser VAR_019888 rs104893639

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 10.36 COL2A1 CHST3 ACAN

GO Terms for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 MATN3 COL2A1 CCN6 ACAN

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 9.32 CHST3 B3GALT6
2 cartilage condensation GO:0001502 9.26 COL2A1 ACAN
3 keratan sulfate catabolic process GO:0042340 9.16 GALNS ACAN
4 bone development GO:0060348 9.13 PAPSS2 DYM COL2A1
5 skeletal system development GO:0001501 9.02 TRAPPC2 PAPSS2 MATN3 COL2A1 ACAN

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 8.8 MATN3 COL2A1 ACAN

Sources for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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