MCID: SPN250
MIFTS: 48

Spondyloepimetaphyseal Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

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Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepimetaphyseal Dysplasia 50 11 13 12
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 46 25
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 46 68
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 50
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 68
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 52
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 68
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 68
 
Spondyloepimetaphyseal Dysplasia Matn3-Related 68
Spondyloepimetaphyseal Disorder 66
Matrilin-3 Related Semd 68
Semd, Matrilin-3 Type 52
Semd Matrilin-3 Type 68
Semd, Matn3-Related 52
Semd Matn3-Related 46
Semd-Matn3 68

Characteristics:

Orphanet epidemiological data:

52
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

62
spondyloepimetaphyseal dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 608728
Disease Ontology11 DOID:0080027
Orphanet52 ORPHA156728
ICD10 via Orphanet29 Q77.7
MedGen35 C1837481
MeSH37 D001848

Summaries for Spondyloepimetaphyseal Dysplasia

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, also known as spondyloepimetaphyseal dysplasia matrilin-3 related, is related to smed strudwick type and spondyloepimetaphyseal dysplasia, missouri type, and has symptoms including posterior rib cupping, platyspondyly and limited elbow extension. An important gene associated with Spondyloepimetaphyseal Dysplasia is MATN3 (Matrilin 3), and among its related pathways are Cell adhesion_ECM remodeling and ECM proteoglycans. Affiliated tissues include vertebral column, epiphysis and metaphysis, and related mouse phenotypes are skeleton and limbs/digits/tail.

Disease Ontology:11 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.

Wikipedia:69 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:50 608728

Related Diseases for Spondyloepimetaphyseal Dysplasia

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type33.1ACAN, COL2A1
2spondyloepimetaphyseal dysplasia, missouri type12.4
3spondyloepimetaphyseal dysplasia with joint laxity, type 212.4
4spondyloepimetaphyseal dysplasia, aggrecan type12.2
5spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures12.2
6spondyloepimetaphyseal dysplasia, sponastrime type12.2
7spondyloepimetaphyseal dysplasia with multiple dislocations12.2
8spondyloepimetaphyseal dysplasia, genevieve type12.2
9spondyloepimetaphyseal dysplasia, faden-alkuraya type12.2
10spondyloepimetaphyseal dysplasia joint laxity12.2
11spondyloepimetaphyseal dysplasia with hypotrichosis12.0
12spondyloepimetaphyseal dysplasia, x-linked12.0
13spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration12.0
14spondyloepimetaphyseal dysplasia, shohat type12.0
15spondyloepimetaphyseal dysplasia with abnormal dentition12.0
16spondyloepimetaphyseal dysplasia, micromelic12.0
17spondyloepimetaphyseal dysplasia, irapa type12.0
18spondyloepimetaphyseal dysplasia, isidor type11.9
19progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome11.9
20brachyolmia 4 with mild epiphyseal and metaphyseal changes11.6
21spondylometaepiphyseal dysplasia, short limb-hand type11.6
22handigodu joint disease11.3
23anauxetic dysplasia11.1
24malignant pleural solitary fibrous tumor10.4COL2A1, PAPSS2
25leber congenital amaurosis 310.3ACAN, COL2A1
26acromesomelic dysplasia10.2ACAN, COL2A1
27osteopetrosis10.2ACAN, COL2A1
28slc40a1-related hereditary hemochromatosis10.2ACAN, COL2A1
29bone resorption disease10.1ACAN, COL2A1
30bone structure disease10.1ACAN, MMP13
31dengue hemorrhagic fever10.0ACAN, MMP13
32spondyloepiphyseal dysplasia with congenital joint dislocations10.0
33metatropic dysplasia10.0
34dyggve-melchior-clausen disease10.0
35osteopathia striata with pigmentary dermopathy including white forelock10.0COL2A1, MATN3
36scoliosis10.0
37laryngitis10.0
38retinitis10.0
39hypotrichosis10.0
40retinal detachment10.0
41dysspondyloenchondromatosis10.0
42chromosomal disease10.0ACAN, COL2A1, MMP13
43xanthomatosis9.9ACAN, COL2A1, MMP13
44vulvovaginal candidiasis9.9COL2A1, DYM
45pars planitis9.7COL2A1, MATN3
46malignant giant cell tumor9.7ACAN, MMP13
47ischemic bone disease9.6COL2A1, MATN3
48immunodeficiency 309.5ACAN, COL2A1, MATN3
49osteonecrosis9.5ACAN, MATN3, MMP13
50osteochondrosis8.7ACAN, COL2A1, DDR2, MATN3, 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 20)
id Description Frequency HPO Source Accession
1 posterior rib cupping HP:0000922
2 platyspondyly HP:0000926
3 limited elbow extension HP:0001377
4 waddling gait HP:0002515
5 spondyloepimetaphyseal dysplasia HP:0002651
6 narrow iliac wings HP:0002868
7 lumbar hyperlordosis HP:0002938
8 bowing of the legs HP:0002979
9 micromelia HP:0002983
10 metaphyseal widening HP:0003016
11 short long bone HP:0003026
12 hypoplastic pubic bone HP:0003173
13 flat acetabular roof HP:0003180
14 ovoid vertebral bodies HP:0003300
15 metaphyseal spurs HP:0005054
16 thoracic hypoplasia HP:0005257
17 dysplastic iliac wings HP:0008794
18 disproportionate short-limb short stature HP:0008873
19 irregular epiphyses HP:0010582
20 small epiphyses HP:0010585

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, 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 Related25

Anatomical Context for Spondyloepimetaphyseal Dysplasia

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

34
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

17
Vertebral column, Epiphysis, Metaphysis

Animal Models for Spondyloepimetaphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.7COL2A1, DDR2, DYM, MATN3, MMP13, PAPSS2
2MP:00053717.4COL2A1, DDR2, DYM, MATN3, MMP13, PAPSS2

Publications for Spondyloepimetaphyseal Dysplasia

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Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 33)
idTitleAuthorsYear
1
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. (27245527)
2016
2
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. (27102849)
2016
3
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. (27236923)
2016
4
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). (26250472)
2015
5
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. (25256152)
2014
6
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. (25383842)
2014
7
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. (24766538)
2014
8
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. (23665482)
2013
9
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. (23956136)
2013
10
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. (23633440)
2013
11
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (22152677)
2011
12
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. (21818555)
2011
13
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. (19277648)
2009
14
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. (18841068)
2008
15
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. (18256824)
2008
16
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. (17676604)
2007
17
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. (17090519)
2006
18
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
19
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)
2005
20
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. (16088915)
2005
21
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
22
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. (15726110)
2005
23
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. (14755468)
2004
24
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? (15194947)
2004
25
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. (12925722)
2003
26
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. (12966527)
2003
27
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (12205110)
2002
28
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (9771708)
1998
29
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (9678701)
1998
30
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. (9714015)
1998
31
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)
1996
32
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995
33
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:

68
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888rs104893639

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

5
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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Pathways related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8COL2A1, MMP13
29.6ACAN, MATN3
38.7ACAN, COL2A1, DDR2
48.3ACAN, COL2A1, DDR2, MMP13
5
Show member pathways
8.0ACAN, COL2A1, DDR2, MATN3, MMP13

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia

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Cellular components related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.0ACAN, COL2A1, MATN3, MMP13
2extracellular regionGO:00055768.3ACAN, COL2A1, MATN3, MMP13, RSPRY1

Biological processes related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.1COL2A1, MMP13
2cartilage developmentGO:00512169.9COL2A1, MMP13
3endochondral ossificationGO:00019589.8COL2A1, MMP13
4bone developmentGO:00603489.8COL2A1, DYM, PAPSS2
5extracellular matrix disassemblyGO:00226179.7ACAN, MMP13
6collagen fibril organizationGO:00301998.6ACAN, COL2A1, DDR2
7skeletal system developmentGO:00015018.5ACAN, COL2A1, MATN3, PAPSS2
8extracellular matrix organizationGO:00301988.4ACAN, COL2A1, DDR2, MATN3

Molecular functions related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.7ACAN, MATN3
2collagen bindingGO:00055189.3DDR2, MMP13

Sources for Spondyloepimetaphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet