MCID: SPN250
MIFTS: 47

Spondyloepimetaphyseal Dysplasia malady

Bone diseases, Fetal diseases categories

Summaries for Spondyloepimetaphyseal Dysplasia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 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, sponastrime type and metaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia is MATN3 (matrilin 3), and among its related pathways are Non-integrin membrane-ECM interactions and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds pyridinoline and keratan sulfate have been mentioned in the context of this disorder. Affiliated tissues include epiphysis, vertebral column and metaphysis, and related mouse phenotypes are craniofacial and skeleton.

Wikipedia:63 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:46 608728

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

spondyloepimetaphyseal dysplasia 8 9 46 10
spondyloepimetaphyseal dysplasia, matrilin-3 type 48
semd, matrilin-3 type 48
semd, matn3-related 48


External Ids:

Disease Ontology8 DOID:0080027
OMIM46 608728
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Spondyloepimetaphyseal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia, sponastrime type35.5SEMA3A
2metaphyseal dysplasia30.1COL2A1
3diastrophic dysplasia13.3MATN3, COL2A1, COMP
4relapsing polychondritis13.3COL2A1, COMP
5achondroplasia13.3COL2A1, ACAN, COMP
6multiple epiphyseal dysplasia13.3COMP, ACAN, MATN3
7brachydactyly13.3COMP, COL2A1
8osteoarthritis13.3PAPSS2, DDR2, COMP, COL2A1, ACAN, MMP13
9pseudoachondroplasia13.3MATN3, COMP, ACAN
10arthropathy13.3COL2A1, ACAN, MMP13, COMP
11chondrosarcoma13.3MMP13, COMP, ACAN
12hypertrophy of breast13.3MMP13, ACAN, COL2A1, COMP
13osteochondrodysplasia13.3COMP, PAPSS2
14rheumatoid arthritis13.3MMP13, COMP, COL2A1, ACAN
15synovitis13.3COMP, ACAN, MMP13, COL2A1
16dwarfism13.3ACAN, COL2A1, DYM, COMP
17multiple epiphyseal dysplasia, dominant13.3MATN3, COMP
18skeletal dysplasias13.3ACAN, MMP13, COMP, COL2A1
19short stature13.3MATN3, COMP, COL2A1
20spondyloepimetaphyseal dysplasia, strudwick type10.8
21spondyloepimetaphyseal dysplasia, missouri type10.6
22spondyloepimetaphyseal dysplasia with joint laxity, type 210.5
23spondyloepimetaphyseal dysplasia x-linked10.4
24spondyloepimetaphyseal dysplasia with hypotrichosis10.4
25spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.4
26spondyloepimetaphyseal dysplasia, pakistani type10.4
27spondyloepimetaphyseal dysplasia genevieve type10.4
28spondyloepimetaphyseal dysplasia matrilin-3 related10.4
29spondyloepimetaphyseal dysplasia shohat type10.4
30spondyloepimetaphyseal dysplasia, aggrecan type10.4
31spondyloepimetaphyseal dysplasia with multiple dislocations10.4
32spondyloepimetaphyseal dysplasia, handigodu type10.4
33spondyloepimetaphyseal dysplasia joint laxity10.3
34spondyloepimetaphyseal dysplasia, bieganski type10.3
35spondyloepimetaphyseal dysplasia - abnormal dentition10.3
36spondyloepimetaphyseal dysplasia, irapa type10.3
37anauxetic dysplasia10.2
38spondyloepimetaphyseal dysplasia micromelic10.2
39spondyloepimetaphyseal dysplasia x-linked with mental deterioration10.2
40spondyloepimetaphyseal dysplasia, isidor type10.2
41spondyloepiphyseal dysplasia with congenital joint dislocations10.1
42hypotrichosis10.1
43spondylometaepiphyseal dysplasia short limb-hand type10.1
44spondyloenchondrodysplasia with immune dysregulation10.1
45brachyolmia 4 with mild epiphyseal and metaphyseal changes10.1
46osteochondritis dissecans10.0ACAN
47x-linked spondyloepiphyseal dysplasia tarda10.0ACAN, COL2A1
48arthritis10.0COL2A1, ACAN

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



Diseases related to spondyloepimetaphyseal dysplasia

Clinical Features for Spondyloepimetaphyseal Dysplasia

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46OMIM
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Clinical features from OMIM:

608728

Clinical synopsis from OMIM:

608728

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spondyloepimetaphyseal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Spondyloepimetaphyseal Dysplasia

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Search CenterWatch for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

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Anatomical Context for Spondyloepimetaphyseal Dysplasia

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

32
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

14
Epiphysis, Vertebral column, Metaphysis

Animal Models for Spondyloepimetaphyseal Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2PAPSS2, ACAN, DYM, COL2A1
2MP:00053907.4PAPSS2, ACAN, MMP13, MATN3, DYM, COL2A1
3MP:00053717.3PAPSS2, ACAN, MMP13, MATN3, DYM, COL2A1
4MP:00053787.1PAPSS2, ACAN, MMP13, MATN3, DYM, COL2A1

Publications for Spondyloepimetaphyseal Dysplasia

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50PubMed
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Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 17)
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
17
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? (3681904)
1987

Genetic Variations for Spondyloepimetaphyseal Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spondyloepimetaphyseal Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888

Expression for genes affiliated with Spondyloepimetaphyseal Dysplasia

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1BioGPS, 15Gene 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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53Reactome, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 52R&D Systems, 51QIAGEN
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Pathways related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1COL2A1
2
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.6MMP13, COL2A1
39.5PAPSS2, PAPSS1
4
Hide members
9.5PAPSS1, PAPSS2
59.5PAPSS2, PAPSS1
6
Hide members
9.5MATN3, ACAN
79.5COL2A1, ACAN
89.0ACAN, MMP13, COL2A1
9
Cell adhesion ECM remodeling
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9.0COL2A1, MMP13, ACAN
10
Hide members
8.9PAPSS2, PAPSS1, ACAN
11
Hide members
8.6ACAN, MMP13, MATN3, COL2A1

Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia

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44Novoseek, 24HMDB
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Compounds related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1pyridinoline4410.1COL2A1
2keratan sulfate449.9ACAN
3pentosidine449.7ACAN, COL2A1
43-phosphoadenosine 5-phosphosulfate449.7PAPSS2, PAPSS1
5chondroitin sulfate44 2410.5MMP13, ACAN
6tgf beta1449.5MMP13, ACAN
7hyaluronic acid44 2410.4MMP13, ACAN
8alginate449.2ACAN, MMP13, COL2A1
9procollagen449.2COL2A1, MMP13, ACAN
10glycosaminoglycan449.2COL2A1, MMP13, ACAN
11vitamin d449.2ACAN, COL2A1
12agarose449.2COL2A1, ACAN, MMP13
13pyrophosphate44 2410.2PAPSS2, PAPSS1, COL2A1
14ascorbic acid44 249.9MMP13, COL2A1, ACAN
15sulfate44 249.8COL2A1, ACAN, PAPSS2, PAPSS1

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia

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16Gene Ontology
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Cellular components related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055788.7MATN3, MMP13, ACAN
2extracellular regionGO:0055768.6COL2A1, MATN3, MMP13, ACAN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:03019910.1COL2A1
2sulfate assimilationGO:0001039.7PAPSS1, PAPSS2
33-phosphoadenosine 5-phosphosulfate biosynthetic processGO:0504289.6PAPSS2, PAPSS1
43-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.4PAPSS1, PAPSS2
5bone developmentGO:0603488.9PAPSS2, DYM
6glycosaminoglycan metabolic processGO:0302038.9PAPSS2, PAPSS1, ACAN
7extracellular matrix organizationGO:0301988.8COL2A1, MATN3, MMP13, ACAN
8skeletal system developmentGO:0015018.4PAPSS2, PAPSS1, ACAN, MATN3, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00551810.5
2adenylylsulfate kinase activityGO:0040209.6PAPSS2, PAPSS1
3sulfate adenylyltransferase (ATP) activityGO:0047819.5PAPSS2, PAPSS1
4extracellular matrix structural constituentGO:0052019.4MATN3, ACAN
5nucleotidyltransferase activityGO:0167799.2PAPSS2, PAPSS1

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Sources for Spondyloepimetaphyseal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet