MCID: SPN250
MIFTS: 48

Spondyloepimetaphyseal Dysplasia malady

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

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Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepimetaphyseal Dysplasia 49 10 11 12
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 45 24
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 45 67
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 67
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 51
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 67
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 67
 
Spondyloepimetaphyseal Dysplasia Matn3-Related 67
Matrilin-3 Related Semd 67
Semd, Matrilin-3 Type 51
Semd Matrilin-3 Type 67
Semd, Matn3-Related 51
Semd Matn3-Related 45
Semd-Matn3 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 608728
Disease Ontology10 DOID:0080027
Orphanet51 156728
ICD10 via Orphanet28 Q77.7
MedGen34 C1837481
MeSH36 D001848

Summaries for Spondyloepimetaphyseal Dysplasia

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UniProtKB/Swiss-Prot:67 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 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 Cell adhesion_ECM remodeling and ECM proteoglycans. Affiliated tissues include vertebral column, epiphysis and metaphysis, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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

Wikipedia:68 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:49 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
1spondyloepiphyseal dysplasia with congenital joint dislocations30.2ACAN, COL2A1
2smed strudwick type10.9
3spondyloepimetaphyseal dysplasia, missouri type10.8
4spondyloepimetaphyseal dysplasia with joint laxity, type 210.8
5spondyloepimetaphyseal dysplasia with multiple dislocations10.7
6spondyloepimetaphyseal dysplasia, aggrecan type10.7
7spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.6
8spondyloepimetaphyseal dysplasia, sponastrime type10.6
9spondyloepimetaphyseal dysplasia joint laxity10.6
10spondyloepimetaphyseal dysplasia with hypotrichosis10.5
11brachyolmia 4 with mild epiphyseal and metaphyseal changes10.5
12spondyloepimetaphyseal dysplasia genevieve type10.5
13spondyloepimetaphyseal dysplasia x-linked10.5
14spondyloepimetaphyseal dysplasia micromelic10.5
15spondyloepimetaphyseal dysplasia shohat type10.5
16spondyloepimetaphyseal dysplasia, irapa type10.5
17spondyloepimetaphyseal dysplasia - short limb - abnormal calcification10.5
18spondylometaepiphyseal dysplasia, short limb-hand type10.4
19spondyloepimetaphyseal dysplasia x-linked with mental deterioration10.4
20spondyloepimetaphyseal dysplasia, bieganski type10.4
21spondyloepimetaphyseal dysplasia - abnormal dentition10.4
22spondyloepimetaphyseal dysplasia, isidor type10.4
23spondyloepimetaphyseal dysplasia congenita, strudwick type10.4
24spondyloepimetaphyseal dysplasia, handigodu type10.4
25anauxetic dysplasia10.3
26metatropic dysplasia10.2
27dyggve-melchior-clausen disease10.2
28hypotrichosis10.2
29laryngitis10.2
30retinal detachment10.2
31retinitis10.2
32scoliosis10.2
33dysspondyloenchondromatosis10.2
34leber congenital amaurosis 310.1ACAN, COL2A1
35cataract10.1ACAN, COL2A1
36achondrogenesis, type ii or hypochondrogenesis10.1ACAN, COL2A1
37osteonecrosis10.1ACAN, COL2A1
38hyperandrogenism10.1ACAN, COL2A1
39colon adenocarcinoma10.1B3GALT6, COL2A1
40slc16a1-related hyperinsulinism10.0ACAN, COL2A1
41bone development disease10.0ACAN, MMP13
42jaw cancer10.0ACAN, COL2A1
43osteochondrosis10.0ACAN, MMP13
44borderline glaucoma9.9ACAN, COL2A1, MMP13
45skeleto cardiac syndrome with thrombocytopenia9.8COL2A1, MATN3, PAPSS2
46epiphyseal dysplasia, multiple, 19.8ACAN, COL2A1, MATN3
47chronic gonococcal salpingitis9.8ACAN, COL2A1, MATN3
48osteomyelitis9.8COL2A1, DYM, MATN3
49asphyxia neonatorum9.7ACAN, COL2A1, MMP13
50osteochondritis dissecans9.4ACAN, 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 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 bone HP:0003026
13 hypoplastic pubic bone 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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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 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.9ACAN, COL2A1, DYM, MATN3, MMP13, PAPSS2
2MP:00053827.8ACAN, COL2A1, DDR2, DYM, PAPSS2
3MP:00053907.2ACAN, COL2A1, DDR2, DYM, MATN3, MMP13
4MP:00053787.0ACAN, COL2A1, DDR2, DYM, MATN3, MMP13

Publications for Spondyloepimetaphyseal Dysplasia

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Articles related to Spondyloepimetaphyseal Dysplasia:

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

67
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888

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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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
1collagen trimerGO:00055819.4COL2A1, MMP13
2proteinaceous extracellular matrixGO:00055789.3ACAN, COL2A1, MATN3
3extracellular matrixGO:00310129.1ACAN, COL2A1, MMP13

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:000206210.1COL2A1, MATN3
2endochondral ossificationGO:000195810.0COL2A1, MMP13
3cartilage developmentGO:005121610.0COL2A1, MMP13
4cartilage condensationGO:00015029.8ACAN, COL2A1
5collagen catabolic processGO:00305749.4COL2A1, MMP13
6bone developmentGO:00603489.4COL2A1, DYM, PAPSS2
7carbohydrate metabolic processGO:00059759.2ACAN, B3GALT6, PAPSS2
8glycosaminoglycan metabolic processGO:00302039.2ACAN, B3GALT6, PAPSS2
9ossificationGO:00015039.2COL2A1, DDR2, MMP13
10extracellular matrix disassemblyGO:00226179.1ACAN, COL2A1, MMP13
11skeletal system developmentGO:00015018.9ACAN, COL2A1, MATN3, PAPSS2
12collagen fibril organizationGO:00301998.8ACAN, COL2A1, DDR2
13extracellular matrix organizationGO:00301988.0ACAN, COL2A1, DDR2, MATN3, MMP13

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.3DDR2, MMP13
2extracellular matrix structural constituentGO:00052019.2ACAN, COL2A1, MATN3

Sources for Spondyloepimetaphyseal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet