MCID: SPN250
MIFTS: 47

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 51 11 12 13
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 47 26
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 47 69
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 51
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 69
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 53
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 69
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 69
 
Spondyloepimetaphyseal Dysplasia Matn3-Related 69
Spondyloepimetaphyseal Disorder 67
Matrilin-3 Related Semd 69
Semd, Matrilin-3 Type 53
Semd Matrilin-3 Type 69
Semd, Matn3-Related 53
Semd Matn3-Related 47
Semd-Matn3 69

Characteristics:

Orphanet epidemiological data:

53
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

63
spondyloepimetaphyseal dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 608728
Disease Ontology11 DOID:0080027
Orphanet53 ORPHA156728
ICD10 via Orphanet30 Q77.7
MedGen36 C1837481
MeSH38 D001848

Summaries for Spondyloepimetaphyseal Dysplasia

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UniProtKB/Swiss-Prot:69 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 limbs/digits/tail and skeleton.

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

Wikipedia:70 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:51 608728

Related Diseases for Spondyloepimetaphyseal Dysplasia

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Diseases in the Spondyloepimetaphyseal Dysplasia family:

Spondyloepimetaphyseal Dysplasia, Matn3-Related

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type32.7ACAN, COL2A1
2spondyloepimetaphyseal dysplasia, missouri type12.4
3spondyloepimetaphyseal dysplasia with joint laxity, type 212.3
4spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures12.2
5spondyloepimetaphyseal dysplasia, aggrecan type12.2
6spondyloepimetaphyseal dysplasia, sponastrime type12.2
7spondyloepimetaphyseal dysplasia, x-linked12.2
8spondyloepimetaphyseal dysplasia, faden-alkuraya type12.2
9spondyloepimetaphyseal dysplasia, genevieve type12.1
10spondyloepimetaphyseal dysplasia with multiple dislocations12.1
11spondyloepimetaphyseal dysplasia joint laxity12.0
12spondyloepimetaphyseal dysplasia with hypotrichosis11.9
13spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration11.9
14spondyloepimetaphyseal dysplasia, shohat type11.9
15spondyloepimetaphyseal dysplasia with abnormal dentition11.9
16spondyloepimetaphyseal dysplasia, micromelic11.9
17spondyloepimetaphyseal dysplasia, irapa type11.9
18spondyloepimetaphyseal dysplasia, matn3-related11.8
19spondyloepimetaphyseal dysplasia, isidor type11.8
20progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome11.8
21brachyolmia 4 with mild epiphyseal and metaphyseal changes11.7
22spondylometaepiphyseal dysplasia, short limb-hand type11.6
23handigodu joint disease11.5
24anauxetic dysplasia11.0
25spondyloepiphyseal dysplasia with congenital joint dislocations10.9
26metatropic dysplasia10.9
27dyggve-melchior-clausen disease10.9
28malignant pleural solitary fibrous tumor10.3COL2A1, PAPSS2
29osteopathia striata with pigmentary dermopathy including white forelock10.1COL2A1, MATN3
30leber congenital amaurosis 310.0ACAN, COL2A1
31acromesomelic dysplasia9.9ACAN, COL2A1
32osteopetrosis9.9ACAN, COL2A1
33pars planitis9.9COL2A1, MATN3
34slc40a1-related hereditary hemochromatosis9.9ACAN, COL2A1
35scoliosis9.8
36laryngitis9.8
37retinitis9.8
38hypotrichosis9.8
39retinal detachment9.8
40dysspondyloenchondromatosis9.8
41bone resorption disease9.8ACAN, COL2A1
42ischemic bone disease9.8COL2A1, MATN3
43bone structure disease9.7ACAN, MMP13
44dengue hemorrhagic fever9.7ACAN, MMP13
45chromosomal disease9.6ACAN, COL2A1, MMP13
46xanthomatosis9.6ACAN, COL2A1, MMP13
47immunodeficiency 309.5ACAN, COL2A1, MATN3
48malignant giant cell tumor9.3ACAN, MMP13
49osteonecrosis9.3ACAN, MATN3, MMP13
50osteochondrosis8.8ACAN, 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

Human phenotypes related to Spondyloepimetaphyseal Dysplasia:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 posterior rib cupping63 HP:0000922
2 platyspondyly63 HP:0000926
3 limited elbow extension63 HP:0001377
4 waddling gait63 HP:0002515
5 spondyloepimetaphyseal dysplasia63 HP:0002651
6 narrow iliac wings63 HP:0002868
7 lumbar hyperlordosis63 HP:0002938
8 bowing of the legs63 HP:0002979
9 micromelia63 HP:0002983
10 metaphyseal widening63 HP:0003016
11 short long bone63 HP:0003026
12 hypoplastic pubic bone63 HP:0003173
13 flat acetabular roof63 HP:0003180
14 ovoid vertebral bodies63 HP:0003300
15 metaphyseal spurs63 HP:0005054
16 thoracic hypoplasia63 HP:0005257
17 dysplastic iliac wings63 HP:0008794
18 disproportionate short-limb short stature63 HP:0008873
19 irregular epiphyses63 HP:0010582
20 small epiphyses63 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 Related26

Anatomical Context for Spondyloepimetaphyseal Dysplasia

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5BGN, COL2A1, DDR2, MATN3, MMP13, PAPSS2
2MP:00053907.7BGN, COL2A1, DDR2, 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:

69
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
1MATN3NM_002381.4(MATN3): c.910T> A (p.Cys304Ser)SNVPathogenicrs104893639GRCh37Chr 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
1extracellular matrixGO:00310129.0ACAN, BGN, COL2A1
2proteinaceous extracellular matrixGO:00055788.2ACAN, BGN, COL2A1, MATN3, MMP13
3extracellular regionGO:00055767.8ACAN, BGN, COL2A1, MATN3, MMP13, RSPRY1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:006034810.2COL2A1, PAPSS2
2collagen catabolic processGO:003057410.1COL2A1, MMP13
3cartilage developmentGO:005121610.0COL2A1, MMP13
4endochondral ossificationGO:00019589.9COL2A1, MMP13
5glycosaminoglycan metabolic processGO:00302039.8B3GALT6, BGN
6chondroitin sulfate biosynthetic processGO:00302069.8B3GALT6, BGN
7skeletal system developmentGO:00015018.7ACAN, COL2A1, MATN3, PAPSS2
8collagen fibril organizationGO:00301998.4ACAN, COL2A1, DDR2
9extracellular matrix organizationGO:00301987.9ACAN, BGN, COL2A1, DDR2, MATN3

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, BGN, MATN3

Sources for Spondyloepimetaphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet