SEMD-MATN3
MCID: SPN250
MIFTS: 47

Spondyloepimetaphyseal Dysplasia (SEMD-MATN3) 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 52 11 12 13
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 48 27
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 48 70
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 52
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 70
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 54
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 70
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 70
 
Spondyloepimetaphyseal Dysplasia Matn3-Related 70
Spondyloepimetaphyseal Disorder 68
Matrilin-3 Related Semd 70
Semd, Matrilin-3 Type 54
Semd Matrilin-3 Type 70
Semd, Matn3-Related 54
Semd Matn3-Related 48
Semd-Matn3 70

Characteristics:

Orphanet epidemiological data:

54
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

64
spondyloepimetaphyseal dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 608728
Disease Ontology11 DOID:0080027
Orphanet54 ORPHA156728
ICD10 via Orphanet31 Q77.7
MedGen37 C1837481
MeSH39 D001848

Summaries for Spondyloepimetaphyseal Dysplasia

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UniProtKB/Swiss-Prot:70 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 metatropic dysplasia 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:71 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:52 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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1metatropic dysplasia31.6COL2A1, PAPSS2
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
18smed strudwick type11.9
19spondyloepimetaphyseal dysplasia, matn3-related11.8
20spondyloepimetaphyseal dysplasia, isidor type11.8
21progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome11.8
22brachyolmia 4 with mild epiphyseal and metaphyseal changes11.7
23spondylometaepiphyseal dysplasia, short limb-hand type11.6
24handigodu joint disease11.4
25anauxetic dysplasia11.0
26spondyloepiphyseal dysplasia with congenital joint dislocations10.9
27dyggve-melchior-clausen disease10.9
28anauxetic dysplasia 110.9
29fetal alcohol spectrum disorder10.2COL2A1, PAPSS2
30coronary heart disease 410.1ACAN, COL2A1
31cerebral palsy10.1ACAN, COL2A1
32epiphyseal dysplasia, multiple, with myopia and deafness10.1ACAN, COL2A1
33sp7-related osteogenesis imperfecta10.1ACAN, COL2A1
34combined oxidative phosphorylation deficiency 210.1ACAN, COL2A1
35albright's hereditary osteodystrophy10.1ACAN, COL2A1
36congenital disorder of glycosylation, type ip10.0COL2A1, MATN3
37chromosomal disease10.0ACAN, COL2A1
38neuropathy, distal hereditary motor, type iia10.0COL2A1, DDR2, MMP13
39bone resorption disease10.0ACAN, MMP13
40physical disorder10.0ACAN, COL2A1, MMP13
41bone angioendothelial sarcoma10.0ACAN, COL2A1, MMP13
42bone structure disease9.9COL2A1, MATN3
43slti salem syndrome9.9COL2A1, MATN3, PAPSS2
44immunodeficiency 309.9ACAN, MATN3
45dentin dysplasia9.9ACAN, MMP13
46intermediate uveitis9.8ACAN, COL2A1, MATN3
47scoliosis9.8
48laryngitis9.8
49retinitis9.8
50hypotrichosis9.8

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



Diseases related to spondyloepimetaphyseal dysplasia

Symptoms & Phenotypes 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:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 posterior rib cupping64 HP:0000922
2 platyspondyly64 HP:0000926
3 limited elbow extension64 HP:0001377
4 waddling gait64 HP:0002515
5 spondyloepimetaphyseal dysplasia64 HP:0002651
6 narrow iliac wings64 HP:0002868
7 lumbar hyperlordosis64 HP:0002938
8 bowing of the legs64 HP:0002979
9 micromelia64 HP:0002983
10 metaphyseal widening64 HP:0003016
11 short long bone64 HP:0003026
12 hypoplastic pubic bone64 HP:0003173
13 flat acetabular roof64 HP:0003180
14 ovoid vertebral bodies64 HP:0003300
15 metaphyseal spurs64 HP:0005054
16 thoracic hypoplasia64 HP:0005257
17 dysplastic iliac wings64 HP:0008794
18 disproportionate short-limb short stature64 HP:0008873
19 irregular epiphyses64 HP:0010582
20 small epiphyses64 HP:0010585

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9BGN, COL2A1, DDR2, MATN3, MMP13, PAPSS2
2MP:00053908.1BGN, COL2A1, DDR2, MATN3, MMP13, PAPSS2

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 Related27

Anatomical Context for Spondyloepimetaphyseal Dysplasia

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

36
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

17
Vertebral column, Epiphysis, Metaphysis

Publications for Spondyloepimetaphyseal Dysplasia

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Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 34)
idTitleAuthorsYear
1
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. (28263186)
2017
2
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. (27236923)
2016
3
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. (27102849)
2016
4
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. (27245527)
2016
5
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). (26250472)
2015
6
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. (25383842)
2014
7
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. (25256152)
2014
8
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. (24766538)
2014
9
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. (23665482)
2013
10
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. (23633440)
2013
11
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. (23956136)
2013
12
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. (21818555)
2011
13
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (22152677)
2011
14
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. (19277648)
2009
15
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. (18256824)
2008
16
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. (18841068)
2008
17
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. (17676604)
2007
18
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
19
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. (17090519)
2006
20
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)
2005
21
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
22
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. (16088915)
2005
23
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. (15726110)
2005
24
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. (14755468)
2004
25
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? (15194947)
2004
26
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. (12966527)
2003
27
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. (12925722)
2003
28
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (12205110)
2002
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
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (9771708)
1998
32
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)
1996
33
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995
34
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:

70
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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Pathways related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7COL2A1, MMP13
28.9ACAN, BGN, MATN3
38.9ACAN, BGN, COL2A1
4
Show member pathways
8.7ACAN, B3GALT6, BGN
58.4ACAN, BGN, COL2A1, DDR2
6
Show member pathways
8.4ACAN, B3GALT6, BGN, PAPSS2
78.4ACAN, COL2A1, DDR2, MMP13
8
Show member pathways
7.6ACAN, BGN, 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
1extracellular matrixGO:00310129.2ACAN, BGN, COL2A1, MMP13
2extracellular regionGO:00055768.2ACAN, BGN, COL2A1, MATN3, MMP13, RSPRY1
3proteinaceous extracellular matrixGO:00055788.2ACAN, BGN, COL2A1, MATN3, MMP13

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:006034810.5COL2A1, PAPSS2
2collagen catabolic processGO:003057410.3COL2A1, MMP13
3endochondral ossificationGO:000195810.3COL2A1, MMP13
4chondroitin sulfate biosynthetic processGO:003020610.2B3GALT6, BGN
5glycosaminoglycan metabolic processGO:003020310.1B3GALT6, BGN
6collagen fibril organizationGO:00301999.4ACAN, COL2A1, DDR2
7skeletal system developmentGO:00015018.7ACAN, COL2A1, MATN3, PAPSS2
8extracellular matrix organizationGO:00301988.7ACAN, BGN, COL2A1, DDR2, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:000551810.0DDR2, MMP13
2extracellular matrix structural constituentGO:00052018.6ACAN, BGN, COL2A1, MATN3

Sources for Spondyloepimetaphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet