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SEMD-MATN3
MCID: SPN411
MIFTS: 46

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
Sources

Summaries for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

About this section
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. 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
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Related Diseases for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 35.0 SEMA3A COL2A1
2 spondyloepimetaphyseal dysplasia, missouri type 34.9 SEMA3A ACAN
3 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 34.3 SEMA3A PAPSS2
4 dyggve-melchior-clausen disease 33.4 TRAPPC2 GALNS DYM
5 metatropic dysplasia 33.0 TRPV4 SEMA3A GALNS DYM COL2A1
6 spondyloepiphyseal dysplasia tarda, x-linked 32.5 TRAPPC2B TRAPPC2 MIA2 CCN6
7 spondyloepiphyseal dysplasia with congenital joint dislocations 31.7 TRPV4 TRAPPC2B TRAPPC2 SMARCAL1 SEMA3A RNU6ATAC
8 metaphyseal dysplasia 31.4 MATN3 DYM COL2A1
9 skeletal dysplasias 31.3 TRPV4 MATN3 COL2A1
10 dwarfism 31.2 TRPV4 RNU4ATAC DYM
11 scoliosis 30.9 TRPV4 KIF22 COL2A1 CCN6 ACAN
12 achondrogenesis, type ii 30.8 SEMA3A MATN3 COL2A1
13 brachydactyly 30.8 TRPV4 RNU6ATAC RNU4ATAC PAPSS2 COL2A1 ACAN
14 kniest dysplasia 30.7 SEMA3A GALNS COL2A1
15 spondyloepiphyseal dysplasia, maroteaux type 30.7 TRPV4 GALNS DYM
16 pseudoachondroplasia 30.7 MATN3 COL2A1 ACAN
17 achondrogenesis 30.5 TRAPPC2B TRAPPC2 MATN3 COL2A1 ACAN
18 larsen syndrome 30.5 GALNS COL2A1 CHST3 B3GALT6
19 hypochondrogenesis 30.5 TRAPPC2B SEMA3A MATN3 COL2A1 ACAN
20 spondyloepiphyseal dysplasia congenita 30.4 TRAPPC2B TRAPPC2 SEMA3A MATN3 GALNS COL2A1
21 multiple epiphyseal dysplasia 30.4 TRAPPC2 PAPSS2 MATN3 LOC101928222 COL2A1 ACAN
22 odontochondrodysplasia 28.3 TRPV4 TRAPPC2B TRAPPC2 SMARCAL1 SEMA3A RNU6ATAC
23 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.9
24 spondyloepimetaphyseal dysplasia, sponastrime type 12.8
25 spondyloepimetaphyseal dysplasia, genevieve type 12.8
26 spondyloepimetaphyseal dysplasia, aggrecan type 12.8
27 spondyloepimetaphyseal dysplasia, faden-alkuraya type 12.8
28 spondyloepimetaphyseal dysplasia, shohat type 12.8
29 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 12.7
30 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.7
31 spondyloepimetaphyseal dysplasia, di rocco type 12.7
32 spondyloepimetaphyseal dysplasia, x-linked 12.7
33 spondyloepimetaphyseal dysplasia, isidor-toutain type 12.7
34 spondyloepimetaphyseal dysplasia with hypotrichosis 12.7
35 spondyloepimetaphyseal dysplasia with multiple dislocations 12.7
36 spondyloepimetaphyseal dysplasia, krakow type 12.6
37 spondyloepimetaphyseal dysplasia with joint laxity, type 3 12.6
38 spondyloepimetaphyseal dysplasia joint laxity 12.6
39 spondyloepimetaphyseal dysplasia with abnormal dentition 12.5
40 spondylometaepiphyseal dysplasia, short limb-hand type 12.3
41 spondyloepimetaphyseal dysplasia, irapa type 12.3
42 spondyloepimetaphyseal dysplasia, micromelic 12.3
43 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 12.2
44 spondyloepimetaphyseal dysplasia, isidor type 12.2
45 handigodu joint disease 12.1
46 anauxetic dysplasia 1 12.0
47 liberfarb syndrome 11.7
48 anauxetic dysplasia 2 11.4
49 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.3
50 patellofemoral pain syndrome 10.6 TRAPPC2B TRAPPC2

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



Diseases related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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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 limited elbow extension 58 31 frequent (33%) Frequent (79-30%) HP:0001377
6 lumbar hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0002938
7 flat face 58 31 occasional (7.5%) Occasional (29-5%) HP:0012368
8 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
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 narrow iliac wings 31 HP:0002868
16 hypoplastic pubic bone 31 HP:0003173
17 short long bone 31 HP:0003026
18 flat acetabular roof 31 HP:0003180
19 irregular epiphyses 31 HP:0010582
20 metaphyseal widening 31 HP:0003016
21 spondyloepimetaphyseal dysplasia 31 HP:0002651
22 small epiphyses 31 HP:0010585
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:
narrow iliac wings
flat acetabular roof
dysplastic iliac wings
hypoplastic pubic bones
underossified ischia

Skeletal Spine:
lumbar hyperlordosis
flat oval-shaped vertebral bodies

Chest External Features:
small chest

Skeletal Limbs:
limited elbow extension
short limbs
bowed legs
short, tubular bones
wide metaphyses with lateral spurs
more
Chest Ribs Sternum Clavicles And Scapulae:
posterior rib cupping

Growth Height:
short-limb dwarfism

Clinical features from OMIM:

608728
Sources

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

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Genetic Tests for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 29 MATN3
Sources

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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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
Sources

Publications for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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Articles related to Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related:

(show top 50) (show all 119)
# 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
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. 61
32420688 2020
3
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 61
31724101 2020
4
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 61
31630789 2019
5
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 61
30358852 2019
6
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
7
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
8
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. 61
30124491 2019
9
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 61
29931299 2018
10
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
11
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 61
29464738 2018
12
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
13
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 61
28892125 2018
14
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 61
29230159 2017
15
Novel pathogenic ACAN variants in non-syndromic short stature patients. 61
28396070 2017
16
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. 61
28328135 2017
17
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 61
28263186 2017
18
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 61
27888646 2017
19
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
20
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 61
27102849 2017
21
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 61
26669664 2016
22
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. 61
27353333 2016
23
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. 61
27236923 2016
24
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 61
27245527 2016
25
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
26
Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress. 61
26499313 2015
27
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. 61
26365341 2015
28
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. 61
25652408 2015
29
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 61
24766538 2015
30
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 61
25256152 2015
31
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
32
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
33
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. 61
26582078 2015
34
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells. 61
25196597 2014
35
Occipitocervical fusion in skeletal dysplasia: a new surgical technique. 61
24825152 2014
36
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
37
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. 61
24300288 2014
38
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis. 61
24575553 2013
39
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. 61
24223250 2013
40
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 61
23956136 2013
41
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 61
23665482 2013
42
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. 61
23633440 2013
43
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 61
23664117 2013
44
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 61
23664118 2013
45
The different roles of aggrecan interaction domains. 61
23019016 2012
46
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. 61
22419508 2012
47
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 61
22152677 2011
48
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
49
Trilogy of gastrointestinal atresias: a case report and review of the literature. 61
22152889 2011
50
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? 61
22570642 2011
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Variations for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL13 NM_000977.3(RPL13):c.477+1G>ASNV Pathogenic 689802 16:89628800-89628800 16:89562392-89562392
2 RPL13 NM_000977.3(RPL13):c.477+1G>TSNV Pathogenic 689800 16:89628800-89628800 16:89562392-89562392
3 RPL13 NM_000977.3(RPL13):c.477+2T>CSNV Pathogenic 689801 16:89628801-89628801 16:89562393-89562393
4 RPL13 NM_000977.3(RPL13):c.548G>T (p.Arg183Leu)SNV Pathogenic 689803 16:89629362-89629362 16:89562954-89562954
5 MATN3 NM_002381.5(MATN3):c.910T>A (p.Cys304Ser)SNV Pathogenic 7544 rs104893639 2:20202928-20202928 2:20003167-20003167
6 DDR2 NM_006182.4(DDR2):c.*188deldeletion Uncertain significance 293387 rs5778295 1:162750211-162750211 1:162780421-162780421
7 DDR2 NM_006182.4(DDR2):c.*171_*172AC[1]short repeat Uncertain significance 293386 rs886045500 1:162750207-162750208 1:162780417-162780418
8 MMP13 NM_002427.4(MMP13):c.*849dupduplication Uncertain significance 301963 rs886047552 11:102814145-102814146 11:102943416-102943417
9 MMP13 NM_002427.4(MMP13):c.*374_*376dupduplication Uncertain significance 301969 rs886047556 11:102814618-102814619 11:102943889-102943890
10 MMP13 NM_002427.4(MMP13):c.*997dupduplication Benign 301961 rs35477433 11:102813997-102813998 11:102943268-102943269
11 DDR2 NM_006182.4(DDR2):c.*187_*188deldeletion Benign 293388 rs5778295 1:162750211-162750212 1:162780421-162780422

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

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Expression for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

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

# Super pathways Score Top Affiliating Genes
1
Articular Cartilage Extracellular Matrix 64
10.36 COL2A1 CHST3 ACAN
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GO Terms for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.7 TRPV4 TRAPPC2B TRAPPC2 RPL13 MIA2 CCN6
2 TRAPP complex GO:0030008 8.96 TRAPPC2B TRAPPC2
3 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 mRNA 5'-splice site recognition GO:0000395 9.43 RNU6ATAC RNU4ATAC
2 spliceosomal tri-snRNP complex assembly GO:0000244 9.4 RNU6ATAC RNU4ATAC
3 chondroitin sulfate biosynthetic process GO:0030206 9.37 CHST3 B3GALT6
4 cartilage condensation GO:0001502 9.32 COL2A1 ACAN
5 keratan sulfate catabolic process GO:0042340 9.26 GALNS ACAN
6 bone development GO:0060348 9.26 RPL13 PAPSS2 DYM COL2A1
7 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 TRPV4 COL2A1
8 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 9.13 MATN3 COL2A1 ACAN
2 pre-mRNA 5'-splice site binding GO:0030627 8.62 RNU6ATAC RNU4ATAC
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Sources for Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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