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

Aliases & Descriptions for Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepimetaphyseal Dysplasia 54 12 13 14
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 50 29
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type 50 66
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 54
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type 66
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 56
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type 66
Spondylometaepiphyseal Dysplasia Matrilin-3 Type 66
Spondyloepimetaphyseal Dysplasia Matn3-Related 66
Spondyloepimetaphyseal Disorder 69
Matrilin-3 Related Semd 66
Semd, Matrilin-3 Type 56
Semd Matrilin-3 Type 66
Semd, Matn3-Related 56
Semd Matn3-Related 50
Semd-Matn3 66

Characteristics:

Orphanet epidemiological data:

56
spondyloepimetaphyseal dysplasia, matrilin-3 type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
spondyloepimetaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 608728
Disease Ontology 12 DOID:0080027
Orphanet 56 ORPHA156728
ICD10 via Orphanet 34 Q77.7
MedGen 40 C1837481
MeSH 42 D001848

Summaries for Spondyloepimetaphyseal Dysplasia

UniProtKB/Swiss-Prot : 66 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 waddling gait, ovoid vertebral bodies and platyspondyly. An important gene associated with Spondyloepimetaphyseal Dysplasia is MATN3 (Matrilin 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include bone, vertebral column and epiphysis, and related phenotypes are limbs/digits/tail and skeleton

Disease Ontology : 12 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... more...

Description from OMIM: 608728

Related Diseases for Spondyloepimetaphyseal Dysplasia

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)
id Related Disease Score Top Affiliating Genes
1 metatropic dysplasia 31.6 COL2A1 PAPSS2
2 spondyloepimetaphyseal dysplasia, missouri type 12.4
3 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.3
4 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.2
5 spondyloepimetaphyseal dysplasia, aggrecan type 12.2
6 spondyloepimetaphyseal dysplasia, sponastrime type 12.2
7 spondyloepimetaphyseal dysplasia, x-linked 12.2
8 spondyloepimetaphyseal dysplasia, faden-alkuraya type 12.2
9 spondyloepimetaphyseal dysplasia, genevieve type 12.1
10 spondyloepimetaphyseal dysplasia with multiple dislocations 12.1
11 spondyloepimetaphyseal dysplasia joint laxity 12.0
12 spondyloepimetaphyseal dysplasia with hypotrichosis 11.9
13 spondyloepimetaphyseal dysplasia, x-linked, with mental deterioration 11.9
14 spondyloepimetaphyseal dysplasia, shohat type 11.9
15 spondyloepimetaphyseal dysplasia with abnormal dentition 11.9
16 spondyloepimetaphyseal dysplasia, micromelic 11.9
17 spondyloepimetaphyseal dysplasia, irapa type 11.9
18 smed strudwick type 11.9
19 spondyloepimetaphyseal dysplasia, matn3-related 11.8
20 spondyloepimetaphyseal dysplasia, isidor type 11.8
21 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 11.8
22 brachyolmia 4 with mild epiphyseal and metaphyseal changes 11.7
23 spondylometaepiphyseal dysplasia, short limb-hand type 11.6
24 handigodu joint disease 11.4
25 anauxetic dysplasia 11.0
26 dyggve-melchior-clausen disease 10.9
27 spondyloepiphyseal dysplasia with congenital joint dislocations 10.9
28 anauxetic dysplasia 1 10.9
29 fetal alcohol spectrum disorder 10.2 COL2A1 PAPSS2
30 coronary heart disease 4 10.1 ACAN COL2A1
31 cerebral palsy 10.1 ACAN COL2A1
32 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 ACAN COL2A1
33 sp7-related osteogenesis imperfecta 10.1 ACAN COL2A1
34 combined oxidative phosphorylation deficiency 2 10.1 ACAN COL2A1
35 albright's hereditary osteodystrophy 10.1 ACAN COL2A1
36 congenital disorder of glycosylation, type ip 10.0 COL2A1 MATN3
37 chromosomal disease 10.0 ACAN COL2A1
38 neuropathy, distal hereditary motor, type iia 10.0 COL2A1 DDR2 MMP13
39 physical disorder 10.0 ACAN COL2A1 MMP13
40 bone resorption disease 10.0 ACAN MMP13
41 bone angioendothelial sarcoma 10.0 ACAN COL2A1 MMP13
42 bone structure disease 9.9 COL2A1 MATN3
43 slti salem syndrome 9.9 COL2A1 MATN3 PAPSS2
44 immunodeficiency 30 9.9 ACAN MATN3
45 dentin dysplasia 9.9 ACAN MMP13
46 intermediate uveitis 9.8 ACAN COL2A1 MATN3
47 retinal detachment 9.8
48 dysspondyloenchondromatosis 9.8
49 scoliosis 9.8
50 laryngitis 9.8

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



Diseases related to Spondyloepimetaphyseal Dysplasia

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia

Symptoms by clinical synopsis from OMIM:

608728

Clinical features from OMIM:

608728

Human phenotypes related to Spondyloepimetaphyseal Dysplasia:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 ovoid vertebral bodies 32 HP:0003300
3 platyspondyly 32 HP:0000926
4 micromelia 32 HP:0002983
5 short long bone 32 HP:0003026
6 disproportionate short-limb short stature 32 HP:0008873
7 narrow iliac wings 32 HP:0002868
8 thoracic hypoplasia 32 HP:0005257
9 hypoplastic pubic bone 32 HP:0003173
10 lumbar hyperlordosis 32 HP:0002938
11 small epiphyses 32 HP:0010585
12 irregular epiphyses 32 HP:0010582
13 flat acetabular roof 32 HP:0003180
14 metaphyseal widening 32 HP:0003016
15 bowing of the legs 32 HP:0002979
16 spondyloepimetaphyseal dysplasia 32 HP:0002651
17 limited elbow extension 32 HP:0001377
18 posterior rib cupping 32 HP:0000922
19 metaphyseal spurs 32 HP:0005054
20 dysplastic iliac wings 32 HP:0008794

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 BGN COL2A1 DDR2 MATN3 MMP13 PAPSS2
2 skeleton MP:0005390 9.1 BGN COL2A1 DDR2 MATN3 MMP13 PAPSS2

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

Genetic tests related to Spondyloepimetaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 29

Anatomical Context for Spondyloepimetaphyseal Dysplasia

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

39
Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Spondyloepimetaphyseal Dysplasia:

18
Vertebral Column, Epiphysis, Metaphysis

Publications for Spondyloepimetaphyseal Dysplasia

Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 34)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 MATN3 p.Cys304Ser VAR_019888 rs104893639

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.910T> A (p.Cys304Ser) single nucleotide variant Pathogenic rs104893639 GRCh37 Chromosome 2, 20202928: 20202928

Expression for Spondyloepimetaphyseal Dysplasia

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia.

Pathways for Spondyloepimetaphyseal Dysplasia

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 ACAN B3GALT6 BGN PAPSS2
2
Show member pathways
12.09 ACAN B3GALT6 BGN
3
Show member pathways
12.09 ACAN BGN COL2A1 DDR2 MATN3 MMP13
4 11.48 ACAN BGN COL2A1
5 11.27 ACAN COL2A1 DDR2 MMP13
6 11.22 COL2A1 MMP13
7 11.19 ACAN BGN MATN3
8 10.5 ACAN BGN COL2A1 DDR2

GO Terms for Spondyloepimetaphyseal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 ACAN BGN COL2A1 MATN3 MMP13 RSPRY1
2 extracellular matrix GO:0031012 9.26 ACAN BGN COL2A1 MMP13
3 proteinaceous extracellular matrix GO:0005578 9.02 ACAN BGN COL2A1 MATN3 MMP13

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

id Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 9.43 COL2A1 MMP13
2 bone development GO:0060348 9.4 COL2A1 PAPSS2
3 glycosaminoglycan metabolic process GO:0030203 9.37 B3GALT6 BGN
4 collagen fibril organization GO:0030199 9.33 ACAN COL2A1 DDR2
5 endochondral ossification GO:0001958 9.32 COL2A1 MMP13
6 chondroitin sulfate biosynthetic process GO:0030206 9.26 B3GALT6 BGN
7 skeletal system development GO:0001501 9.26 ACAN COL2A1 MATN3 PAPSS2
8 extracellular matrix organization GO:0030198 9.02 ACAN BGN COL2A1 DDR2 MATN3

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

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 DDR2 MMP13
2 extracellular matrix structural constituent GO:0005201 8.92 ACAN BGN COL2A1 MATN3

Sources for Spondyloepimetaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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