MCID: SPN250
MIFTS: 50

Spondyloepimetaphyseal Dysplasia malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Spondyloepimetaphyseal Dysplasia

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.

MalaCards: Spondyloepimetaphyseal Dysplasia, also known as spondyloepimetaphyseal dysplasia, matrilin-3 type, is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepimetaphyseal dysplasia, missouri type. An important gene associated with Spondyloepimetaphyseal Dysplasia is MATN3 (matrilin 3), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Sulfation Biotransformation Reaction. The compounds dermatan sulfate and Adenylylselenate have been mentioned in the context of this disorder. Affiliated tissues include vertebral column, epiphysis and metaphysis, and related mouse phenotypes are craniofacial and immune system.

Wikipedia:66 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:48 608728

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

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9Disease Ontology, 10diseasecard, 48OMIM, 11DISEASES, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
app/views/elements/card/aliases_descriptions.ctp (line 56)
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Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia 9 10 48 11
spondyloepimetaphyseal dysplasia, matrilin-3 type 50
semd, matrilin-3 type 50
semd, matn3-related 50


External Ids:

Disease Ontology9 DOID:0080027
OMIM48 608728
ICD10 via Orphanet27 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Spondyloepimetaphyseal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia, strudwick type10.9
2spondyloepimetaphyseal dysplasia, missouri type10.6
3spondyloepimetaphyseal dysplasia with multiple dislocations10.6
4spondyloepimetaphyseal dysplasia with joint laxity, type 210.6
5spondyloepimetaphyseal dysplasia, sponastrime type10.5
6spondyloepimetaphyseal dysplasia with hypotrichosis10.5
7spondyloepimetaphyseal dysplasia x-linked10.5
8spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.5
9spondyloepimetaphyseal dysplasia, pakistani type10.4
10spondyloepimetaphyseal dysplasia genevieve type10.4
11spondyloepimetaphyseal dysplasia matrilin-3 related10.4
12spondyloepimetaphyseal dysplasia shohat type10.4
13spondyloepimetaphyseal dysplasia, aggrecan type10.4
14spondyloepimetaphyseal dysplasia, handigodu type10.4
15spondyloepimetaphyseal dysplasia joint laxity10.4
16spondyloepimetaphyseal dysplasia, bieganski type10.4
17spondyloepimetaphyseal dysplasia - abnormal dentition10.4
18spondyloepimetaphyseal dysplasia, irapa type10.4
19anauxetic dysplasia10.3
20spondyloepimetaphyseal dysplasia micromelic10.3
21spondyloepimetaphyseal dysplasia x-linked with mental deterioration10.3
22spondyloepimetaphyseal dysplasia, isidor type10.3
23spondyloepiphyseal dysplasia with congenital joint dislocations10.1
24hypotrichosis10.1
25chondrodysplasia10.1
26spondylometaepiphyseal dysplasia short limb-hand type10.1
27spondyloenchondrodysplasia with immune dysregulation10.1
28mental retardation10.1
29brachyolmia 4 with mild epiphyseal and metaphyseal changes10.1
30osteochondritis dissecans10.1ACAN
31metaphyseal dysplasia10.1COL2A1
32x-linked spondyloepiphyseal dysplasia tarda10.1ACAN, COL2A1
33relapsing polychondritis10.1COL2A1, COMP
34arthritis10.0COL2A1, ACAN
35multiple epiphyseal dysplasia, dominant10.0COMP, MATN3
36osteochondrodysplasia10.0PAPSS2, COMP
37pseudoachondroplasia10.0MATN3, COMP
38rheumatic disease10.0COL2A1, COMP
39achondroplasia10.0COL2A1, COMP, ACAN
40short stature10.0COMP, COL2A1, MATN3
41multiple epiphyseal dysplasia10.0MATN3, COMP, ACAN
42diastrophic dysplasia10.0COMP, COL2A1, MATN3
43chondrosarcoma10.0MMP13, ACAN, COMP
44skeletal dysplasias10.0MMP13, ACAN, COMP, COL2A1
45arthropathy10.0MMP13, ACAN, COMP, COL2A1
46synovitis10.0COL2A1, COMP, ACAN, MMP13
47brachydactyly10.0COL2A1, COMP
48hypertrophy of breast10.0COL2A1, COMP, ACAN, MMP13
49rheumatoid arthritis10.0MMP13, ACAN, COMP, COL2A1
50dwarfism9.9DYM, COL2A1, COMP, ACAN

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia:



Diseases related to spondyloepimetaphyseal dysplasia

Symptoms for Spondyloepimetaphyseal Dysplasia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608728

Clinical features from OMIM:

608728

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

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43NIH Clinical Center, 7ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spondyloepimetaphyseal Dysplasia

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

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Anatomical Context for Spondyloepimetaphyseal Dysplasia

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

34
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

15
Vertebral column, Epiphysis, Metaphysis

Animal Models for Spondyloepimetaphyseal Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1DDR2, PAPSS2, ACAN, COL2A1, DYM
2MP:00053878.0PAPSS2, ACAN, COMP, COL2A1, MATN3, SEMA3A
3MP:00053717.9MMP13, ACAN, COMP, COL2A1, DYM, PAPSS2
4MP:00053906.6DYM, DDR2, SEMA3A, PAPSS2, MMP13, ACAN
5MP:00053786.5DYM, MATN3, COL2A1, PAPSS2, ACAN, MMP13

Publications for Spondyloepimetaphyseal Dysplasia

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53PubMed
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Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 16)
Notice (8): Undefined index: 0 [APP/views/helpers/card_tools.php, line 402]
idTitleAuthorsYear
1
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (22152677)
2011
2
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. (17676604)
2007
3
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
4
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)
2005
5
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. (15726110)
2005
6
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. (16088915)
2005
7
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
8
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. (12925722)
2003
9
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. (12966527)
2003
10
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (12205110)
2002
11
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. (9714015)
1998
12
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (9771708)
1998
13
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (9678701)
1998
14
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)
1996
15
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995
16
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. (2363424)
1990

Variations for Spondyloepimetaphyseal Dysplasia

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Notice (8): Undefined index: rsNumber [APP/views/elements/card/genetic_variations.ctp, line 33]
app/views/elements/card/genetic_variations.ctp (line 43)
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                    [maladyId] => 5908
                    [type] => single nucleotide variant
                    [name] => NM_002381.4(MATN3):c.910T>A (p.Cys304Ser)
                    [geneSymbol] => 
                    [clinicalSignificance] => Pathogenic
                    [rsNumber] => 104893639
                    [phenotypeId] => ;GeneReviews:NBK1123,MedGen:C1837481,OMIM:608728,Orphanet:ORPHA156728
                    [origin] => germline
                    [assembly] => GRCh37
                    [location] => Chromosome 2, 20202928:20202928
                    [sourceAccession] => 7544
                )

        )

)

Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia:

65
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_002381.4(MATN3): c.910T> A (p.Cys304Ser)single nucleotide variantPathogenicrs104893639GRCh37Chr 2, 20202928: 20202928

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia.

Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 13EMD Millipore, 56Reactome, 55R&D Systems
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Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1dermatan sulfate4610.1COMP
2Adenylylselenate2510.0PAPSS2, PAPSS1
3Adenosine phosphosulfate2510.0PAPSS1, PAPSS2
4pyridinoline4610.0COL2A1, COMP
53-phosphoadenosine 5-phosphosulfate4610.0PAPSS1, PAPSS2
6chondroitin46 2510.9ACAN, B3GALT6
7keratan sulfate469.9COMP, ACAN
8Phosphoadenosine phosphosulfate259.9PAPSS2, PAPSS1
9glucosamine46 25 1211.8ACAN, MMP13
10hydroxyproline46 25 1211.8COL2A1, MMP13
11pentosidine469.7ACAN, COMP, COL2A1
12ascorbic acid46 2510.7ACAN, COL2A1, MMP13
13chondroitin sulfate46 2510.7MMP13, ACAN, COMP
14tgf beta1469.6ACAN, COMP, MMP13
15hyaluronic acid46 2510.6ACAN, COMP, MMP13
16vitamin d469.5ACAN, COL2A1, COMP
17pyrophosphate46 2510.5PAPSS1, COL2A1, PAPSS2
18alginate469.4COL2A1, COMP, ACAN, MMP13
19procollagen469.4COMP, ACAN, MMP13, COL2A1
20glycosaminoglycan469.4COL2A1, MMP13, ACAN, COMP
21agarose469.4MMP13, COL2A1, ACAN, COMP
22cysteine469.1COL2A1, MMP13, PAPSS2, COMP
23sulfate46 2510.0COL2A1, PAPSS2, PAPSS1, ACAN, COMP
24retinoic acid46 259.8COL2A1, COMP, MMP13, ACAN

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia

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17Gene Ontology
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Cellular components related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055788.8MATN3, COMP, ACAN, MMP13
2extracellular regionGO:0055768.0MMP13, ACAN, COMP, COL2A1, MATN3, SEMA3A

Biological processes related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1sulfate assimilationGO:0001039.9PAPSS1, PAPSS2
2collagen catabolic processGO:0305749.9COL2A1, MMP13
33-phosphoadenosine 5-phosphosulfate biosynthetic processGO:0504289.9PAPSS2, PAPSS1
43-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.8PAPSS2, PAPSS1
5extracellular matrix disassemblyGO:0226179.6COL2A1, ACAN, MMP13
6bone developmentGO:0603489.6DYM, PAPSS2
7cartilage developmentGO:0512169.6COL2A1, MMP13
8collagen fibril organizationGO:0301999.6COL2A1, DDR2
9glycosaminoglycan metabolic processGO:0302039.2PAPSS2, PAPSS1, ACAN, B3GALT6
10carbohydrate metabolic processGO:0059759.1B3GALT6, ACAN, PAPSS1, PAPSS2
11skeletal system developmentGO:0015018.6MATN3, COL2A1, COMP, ACAN, PAPSS1, PAPSS2
12extracellular matrix organizationGO:0301988.5DDR2, MMP13, ACAN, COMP, COL2A1, MATN3

Molecular functions related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylylsulfate kinase activityGO:0040209.8PAPSS1, PAPSS2
2sulfate adenylyltransferase (ATP) activityGO:0047819.7PAPSS1, PAPSS2
3collagen bindingGO:0055189.5COMP, DDR2
4nucleotidyltransferase activityGO:0167799.4PAPSS1, PAPSS2
5extracellular matrix structural constituentGO:0052019.3ACAN, COMP, MATN3

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Sources for Spondyloepimetaphyseal Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet