MCID: SPN250
MIFTS: 58

Spondyloepimetaphyseal Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Spondyloepimetaphyseal Dysplasia

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Disease Ontology:10 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, also known as spondyloepimetaphyseal dysplasia matrilin-3 related, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and smed strudwick type, and has symptoms including autosomal recessive inheritance, posterior rib cupping and platyspondyly. 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:65 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:47 608728

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 12DISEASES, 49Orphanet, 24GTR, 28ICD10 via Orphanet
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Spondyloepimetaphyseal Dysplasia, Aliases & Descriptions:

Name: Spondyloepimetaphyseal Dysplasia 47 10 11 12
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 43 24
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 43 49
Semd, Matrilin-3 Type 43 49
 
Semd, Matn3-Related 43 49
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 43
Semd Matn3-Related 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM47 608728
Disease Ontology10 DOID:0080027
Orphanet49 156728
ICD10 via Orphanet28 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia with congenital joint dislocations30.2ACAN, COL2A1
2smed strudwick type10.9
3spondyloepimetaphyseal dysplasia with multiple dislocations10.8
4spondyloepimetaphyseal dysplasia, missouri type10.7
5spondyloepimetaphyseal dysplasia with joint laxity, type 210.6
6spondyloepimetaphyseal dysplasia, sponastrime type10.5
7spondyloepimetaphyseal dysplasia joint laxity10.5
8spondyloepimetaphyseal dysplasia, aggrecan type10.5
9spondyloepimetaphyseal dysplasia genevieve type10.5
10spondyloepimetaphyseal dysplasia with hypotrichosis10.5
11spondyloepimetaphyseal dysplasia x-linked10.5
12spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.4
13anauxetic dysplasia10.4
14brachyolmia 4 with mild epiphyseal and metaphyseal changes10.4
15spondyloepimetaphyseal dysplasia shohat type10.4
16spondylometaepiphyseal dysplasia, short limb-hand type10.4
17spondyloepimetaphyseal dysplasia micromelic10.4
18spondyloepimetaphyseal dysplasia - abnormal dentition10.4
19spondyloepimetaphyseal dysplasia, irapa type10.4
20spondyloepimetaphyseal dysplasia - short limb - abnormal calcification10.4
21spondyloepimetaphyseal dysplasia x-linked with mental deterioration10.3
22spondyloepimetaphyseal dysplasia, bieganski type10.3
23spondyloepimetaphyseal dysplasia, isidor type10.3
24spondyloepimetaphyseal dysplasia, handigodu type10.3
25sed congenita10.1
26hypotrichosis10.1
27laryngitis10.1
28retinal detachment10.1
29retinitis10.1
30scoliosis10.1
31chondrodysplasia10.1
32mental retardation10.1
33osteochondritis dissecans10.1ACAN
34metaphyseal dysplasia10.0COL2A1
35osteochondrodysplasia10.0COL2A1, ACAN
36relapsing polychondritis10.0COL2A1, COMP
37osteoarthritis-510.0COL2A1, COMP
38arthritis10.0COL2A1, ACAN
39multiple epiphyseal dysplasia, dominant10.0MATN3, COMP
40pseudoachondroplasia10.0MATN3, COMP
41rheumatic disease10.0COMP, COL2A1
42achondroplasia10.0ACAN, COMP, COL2A1
43multiple epiphyseal dysplasia10.0COMP, MATN3, ACAN
44diastrophic dysplasia10.0MATN3, COL2A1, COMP
45chondrosarcoma10.0COMP, MMP13, ACAN
46skeletal dysplasia multi-gene panels10.0ACAN, MMP13, COMP, COL2A1
47arthropathy10.0MMP13, ACAN, COMP, COL2A1
48brachydactyly10.0COL2A1, COMP
49synovitis10.0COMP, ACAN, MMP13, COL2A1
50rheumatoid arthritis10.0ACAN, COMP, COL2A1, MMP13

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



Diseases related to spondyloepimetaphyseal dysplasia

Symptoms for Spondyloepimetaphyseal Dysplasia

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Symptoms by clinical synopsis from OMIM:

608728

Clinical features from OMIM:

608728

HPO human phenotypes related to Spondyloepimetaphyseal Dysplasia:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 posterior rib cupping HP:0000922
3 platyspondyly HP:0000926
4 limited elbow extension HP:0001377
5 waddling gait HP:0002515
6 spondyloepimetaphyseal dysplasia HP:0002651
7 narrow iliac wings HP:0002868
8 lumbar hyperlordosis HP:0002938
9 bowing of the legs HP:0002979
10 micromelia HP:0002983
11 metaphyseal widening HP:0003016
12 short long bones HP:0003026
13 hypoplastic pubic bones HP:0003173
14 flat acetabular roof HP:0003180
15 ovoid vertebral bodies HP:0003300
16 metaphyseal spurs HP:0005054
17 thoracic hypoplasia HP:0005257
18 dysplastic iliac wings HP:0008794
19 disproportionate short-limb short stature HP:0008873
20 irregular epiphyses HP:0010582
21 small epiphyses HP:0010585

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

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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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Genetic tests related to Spondyloepimetaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related24

Anatomical Context for Spondyloepimetaphyseal Dysplasia

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

33
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

16
Vertebral column, Epiphysis, Metaphysis

Animal Models for Spondyloepimetaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1DDR2, PAPSS2, ACAN, COL2A1, DYM
2MP:00053878.0MATN3, COL2A1, COMP, ACAN, PAPSS2, SEMA3A
3MP:00053717.9PAPSS2, MMP13, ACAN, COMP, COL2A1, MATN3
4MP:00053906.6DYM, DDR2, SEMA3A, PAPSS2, MMP13, ACAN
5MP:00053786.5DDR2, SEMA3A, PAPSS2, MMP13, ACAN, COMP

Publications for Spondyloepimetaphyseal Dysplasia

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Articles related to Spondyloepimetaphyseal Dysplasia:

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

Variations for Spondyloepimetaphyseal Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia:

64
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

7
id Gene Variation 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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Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia.

Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Sources:
45Novoseek, 26HMDB, 13DrugBank
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Compounds related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1dermatan sulfate4510.1COMP
2Adenylylselenate2610.0PAPSS1, PAPSS2
3Adenosine phosphosulfate2610.0PAPSS2, PAPSS1
4pyridinoline4510.0COL2A1, COMP
53-phosphoadenosine 5-phosphosulfate4510.0PAPSS2, PAPSS1
6chondroitin45 2610.9B3GALT6, ACAN
7keratan sulfate459.9COMP, ACAN
8Phosphoadenosine phosphosulfate269.9PAPSS2, PAPSS1
9glucosamine45 26 1311.8ACAN, MMP13
10hydroxyproline45 26 1311.8MMP13, COL2A1
11pentosidine459.7ACAN, COMP, COL2A1
12ascorbic acid45 2610.7COL2A1, ACAN, MMP13
13chondroitin sulfate45 2610.7COMP, ACAN, MMP13
14tgf beta1459.6COMP, ACAN, MMP13
15hyaluronic acid45 2610.6COMP, ACAN, MMP13
16vitamin d459.5ACAN, COMP, COL2A1
17pyrophosphate45 2610.5COL2A1, PAPSS1, PAPSS2
18alginate459.4MMP13, ACAN, COMP, COL2A1
19procollagen459.4COL2A1, COMP, ACAN, MMP13
20glycosaminoglycan459.4MMP13, ACAN, COMP, COL2A1
21agarose459.4COL2A1, COMP, ACAN, MMP13
22cysteine459.1COL2A1, COMP, MMP13, PAPSS2
23sulfate45 2610.0COL2A1, COMP, ACAN, PAPSS1, PAPSS2
24retinoic acid45 269.8COL2A1, COMP, ACAN, MMP13

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Cellular components related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055788.8MMP13, ACAN, COMP, MATN3
2extracellular regionGO:00055768.0SEMA3A, MMP13, ACAN, COMP, COL2A1, MATN3

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1sulfate assimilationGO:00001039.9PAPSS1, PAPSS2
2collagen catabolic processGO:00305749.9COL2A1, MMP13
33-phosphoadenosine 5-phosphosulfate biosynthetic processGO:00504289.9PAPSS2, PAPSS1
43-phosphoadenosine 5-phosphosulfate metabolic processGO:00504279.8PAPSS2, PAPSS1
5extracellular matrix disassemblyGO:00226179.6COL2A1, ACAN, MMP13
6bone developmentGO:00603489.6DYM, PAPSS2
7cartilage developmentGO:00512169.6COL2A1, MMP13
8collagen fibril organizationGO:00301999.6COL2A1, DDR2
9glycosaminoglycan metabolic processGO:00302039.2PAPSS2, PAPSS1, ACAN, B3GALT6
10carbohydrate metabolic processGO:00059759.1B3GALT6, ACAN, PAPSS1, PAPSS2
11skeletal system developmentGO:00015018.6MATN3, COL2A1, COMP, ACAN, PAPSS1, PAPSS2
12extracellular matrix organizationGO:00301988.5DDR2, MMP13, ACAN, COMP, COL2A1, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1adenylylsulfate kinase activityGO:00040209.8PAPSS1, PAPSS2
2sulfate adenylyltransferase (ATP) activityGO:00047819.7PAPSS1, PAPSS2
3collagen bindingGO:00055189.5COMP, DDR2
4nucleotidyltransferase activityGO:00167799.4PAPSS1, PAPSS2
5extracellular matrix structural constituentGO:00052019.3ACAN, COMP, MATN3

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Sources for Spondyloepimetaphyseal Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
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35MeSH
36MESH via Orphanet
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44NINDS
45Novoseek
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48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet