MCID: SPN250
MIFTS: 51

Spondyloepimetaphyseal Dysplasia malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Spondyloepimetaphyseal Dysplasia

About this section


Fully expand this MalaCard
Disease Ontology:8 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, also known as spondyloepimetaphyseal dysplasia, matrilin-3 type, is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepimetaphyseal dysplasia, missouri type, and has symptoms including An important gene associated with Spondyloepimetaphyseal Dysplasia is MATN3 (matrilin 3), and among its related pathways are Development Hedgehog and PTH signaling pathways in bone and cartilage development and Sulfation Biotransformation Reaction. The compounds dermatan sulfate and Adenylylselenate have been mentioned in the context of this disorder. Affiliated tissues include vertebral column, epiphysis and metaphysis, and related mouse phenotypes are craniofacial and immune system.

Wikipedia:65 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. more...

Description from OMIM:46 608728

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

About this section
Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 26ICD10 via Orphanet
See all sources

Spondyloepimetaphyseal Dysplasia, Aliases & Descriptions:

Name: Spondyloepimetaphyseal Dysplasia 8 9 46 10
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type 48
 
Semd, Matrilin-3 Type 48
Semd, Matn3-Related 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
spondyloepimetaphyseal dysplasia, matrilin-3 type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


External Ids:

Disease Ontology8 DOID:0080027
OMIM46 608728
ICD10 via Orphanet26 Q77.7

Related Diseases for Spondyloepimetaphyseal Dysplasia

About this section

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepimetaphyseal dysplasia, strudwick type10.9
2spondyloepimetaphyseal dysplasia, missouri type10.6
3spondyloepimetaphyseal dysplasia with joint laxity, type 210.6
4spondyloepimetaphyseal dysplasia with multiple dislocations10.6
5spondyloepimetaphyseal dysplasia, sponastrime type10.5
6spondyloepimetaphyseal dysplasia, pakistani type10.5
7spondyloepimetaphyseal dysplasia with hypotrichosis10.5
8spondyloepimetaphyseal dysplasia x-linked10.5
9spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures10.5
10osteochondritis dissecans10.4ACAN
11spondyloepimetaphyseal dysplasia genevieve type10.4
12spondyloepimetaphyseal dysplasia joint laxity10.4
13spondyloepimetaphyseal dysplasia matrilin-3 related10.4
14spondyloepimetaphyseal dysplasia shohat type10.4
15spondyloepimetaphyseal dysplasia, aggrecan type10.4
16spondyloepimetaphyseal dysplasia, handigodu type10.4
17metaphyseal dysplasia10.4COL2A1
18spondyloepimetaphyseal dysplasia, bieganski type10.4
19spondyloepimetaphyseal dysplasia - abnormal dentition10.4
20spondyloepimetaphyseal dysplasia, irapa type10.4
21osteochondrodysplasia10.3ACAN, COL2A1
22x-linked spondyloepiphyseal dysplasia tarda10.3ACAN, COL2A1
23anauxetic dysplasia10.3
24spondyloepimetaphyseal dysplasia micromelic10.3
25spondyloepimetaphyseal dysplasia x-linked with mental deterioration10.3
26spondyloepimetaphyseal dysplasia, isidor type10.3
27relapsing polychondritis10.2COL2A1, COMP
28arthritis10.2COL2A1, ACAN
29multiple epiphyseal dysplasia, dominant10.2COMP, MATN3
30spondyloepiphyseal dysplasia with congenital joint dislocations10.1
31hypotrichosis10.1
32laryngitis10.1
33retinal detachment10.1
34retinitis10.1
35chondrodysplasia10.1
36spondylometaepiphyseal dysplasia short limb-hand type10.1
37mental retardation10.1
38brachyolmia 4 with mild epiphyseal and metaphyseal changes10.1
39pseudoachondroplasia10.1MATN3, COMP
40rheumatic disease10.1COL2A1, COMP
41achondroplasia10.1COL2A1, COMP, ACAN
42multiple epiphyseal dysplasia10.1MATN3, COMP, ACAN
43short stature10.1COMP, COL2A1, MATN3
44diastrophic dysplasia10.1COMP, COL2A1, MATN3
45chondrosarcoma10.0MMP13, ACAN, COMP
46skeletal dysplasia multi-gene panels10.0MMP13, ACAN, COMP, COL2A1
47arthropathy10.0MMP13, ACAN, COMP, COL2A1
48brachydactyly10.0COL2A1, COMP
49synovitis10.0COL2A1, COMP, ACAN, MMP13
50rheumatoid arthritis9.8MMP13, ACAN, COMP, COL2A1

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



Diseases related to spondyloepimetaphyseal dysplasia

Symptoms for Spondyloepimetaphyseal Dysplasia

About this section

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 bones HP:0003026
13 hypoplastic pubic bones 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

About this section

Drug clinical trials:

Search ClinicalTrials for Spondyloepimetaphyseal Dysplasia

Search NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

About this section

Anatomical Context for Spondyloepimetaphyseal Dysplasia

About this section

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

32
Bone

FMA organs/tissues related to Spondyloepimetaphyseal Dysplasia:

14
Vertebral column, Epiphysis, Metaphysis

Animal Models for Spondyloepimetaphyseal Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1DDR2, PAPSS2, ACAN, COL2A1, DYM
2MP:00053878.0MATN3, COL2A1, COMP, ACAN, PAPSS2, SEMA3A
3MP:00053717.9PAPSS2, MMP13, ACAN, COMP, COL2A1, MATN3
4MP:00053906.6DYM, DDR2, SEMA3A, PAPSS2, MMP13, ACAN
5MP:00053786.5DDR2, SEMA3A, PAPSS2, MMP13, ACAN, COMP

Publications for Spondyloepimetaphyseal Dysplasia

About this section

Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 29)
idTitleAuthorsYear
1
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. (25256152)
2014
2
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. (25383842)
2014
3
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. (24766538)
2014
4
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. (23956136)
2013
5
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. (23665482)
2013
6
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. (23633440)
2013
7
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. (21818555)
2011
8
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (22152677)
2011
9
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. (19277648)
2009
10
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. (18841068)
2008
11
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. (18256824)
2008
12
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. (17676604)
2007
13
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. (17090519)
2006
14
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
15
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)
2005
16
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. (15726110)
2005
17
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. (16088915)
2005
18
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
19
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. (14755468)
2004
20
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? (15194947)
2004
21
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. (12925722)
2003
22
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. (12966527)
2003
23
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (12205110)
2002
24
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. (9714015)
1998
25
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (9771708)
1998
26
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (9678701)
1998
27
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)
1996
28
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995
29
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome. (2363424)
1990

Variations for Spondyloepimetaphyseal Dysplasia

About this section

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

64
id Symbol AA change Variation ID SNP ID
1MATN3p.Cys304SerVAR_019888

Clinvar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

6
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Spondyloepimetaphyseal Dysplasia

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia.

Pathways for genes affiliated with Spondyloepimetaphyseal Dysplasia

About this section

Compounds for genes affiliated with Spondyloepimetaphyseal Dysplasia

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1dermatan sulfate4410.1COMP
2Adenylylselenate2410.0PAPSS1, PAPSS2
3Adenosine phosphosulfate2410.0PAPSS2, PAPSS1
4pyridinoline4410.0COL2A1, COMP
53-phosphoadenosine 5-phosphosulfate4410.0PAPSS2, PAPSS1
6chondroitin44 2410.9B3GALT6, ACAN
7keratan sulfate449.9COMP, ACAN
8Phosphoadenosine phosphosulfate249.9PAPSS2, PAPSS1
9glucosamine44 24 1111.8ACAN, MMP13
10hydroxyproline44 24 1111.8MMP13, COL2A1
11pentosidine449.7ACAN, COMP, COL2A1
12ascorbic acid44 2410.7COL2A1, ACAN, MMP13
13chondroitin sulfate44 2410.7COMP, ACAN, MMP13
14tgf beta1449.6COMP, ACAN, MMP13
15hyaluronic acid44 2410.6COMP, ACAN, MMP13
16vitamin d449.5ACAN, COMP, COL2A1
17pyrophosphate44 2410.5COL2A1, PAPSS1, PAPSS2
18alginate449.4MMP13, ACAN, COMP, COL2A1
19procollagen449.4COL2A1, COMP, ACAN, MMP13
20glycosaminoglycan449.4MMP13, ACAN, COMP, COL2A1
21agarose449.4COL2A1, COMP, ACAN, MMP13
22cysteine449.1COL2A1, COMP, MMP13, PAPSS2
23sulfate44 2410.0COL2A1, COMP, ACAN, PAPSS1, PAPSS2
24retinoic acid44 249.8COL2A1, COMP, ACAN, MMP13

GO Terms for genes affiliated with Spondyloepimetaphyseal Dysplasia

About this section

Cellular components related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055788.8MATN3, COMP, ACAN, MMP13
2extracellular regionGO:0055768.0MMP13, ACAN, COMP, COL2A1, MATN3, SEMA3A

Biological processes related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1sulfate assimilationGO:0001039.9PAPSS1, PAPSS2
2collagen catabolic processGO:0305749.9COL2A1, MMP13
33-phosphoadenosine 5-phosphosulfate biosynthetic processGO:0504289.9PAPSS2, PAPSS1
43-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.8PAPSS2, PAPSS1
5extracellular matrix disassemblyGO:0226179.6COL2A1, ACAN, MMP13
6bone developmentGO:0603489.6DYM, PAPSS2
7cartilage developmentGO:0512169.6COL2A1, MMP13
8collagen fibril organizationGO:0301999.6COL2A1, DDR2
9glycosaminoglycan metabolic processGO:0302039.2PAPSS2, PAPSS1, ACAN, B3GALT6
10carbohydrate metabolic processGO:0059759.1B3GALT6, ACAN, PAPSS1, PAPSS2
11skeletal system developmentGO:0015018.6MATN3, COL2A1, COMP, ACAN, PAPSS1, PAPSS2
12extracellular matrix organizationGO:0301988.5DDR2, MMP13, ACAN, COMP, COL2A1, MATN3

Molecular functions related to Spondyloepimetaphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylylsulfate kinase activityGO:0040209.8PAPSS1, PAPSS2
2sulfate adenylyltransferase (ATP) activityGO:0047819.7PAPSS1, PAPSS2
3collagen bindingGO:0055189.5COMP, DDR2
4nucleotidyltransferase activityGO:0167799.4PAPSS1, PAPSS2
5extracellular matrix structural constituentGO:0052019.3ACAN, COMP, MATN3

Products for genes affiliated with Spondyloepimetaphyseal Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Spondyloepimetaphyseal Dysplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet