MCID: SPN250
MIFTS: 49

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 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
 
Spondyloepimetaphyseal Disorder 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
spondyloepimetaphyseal dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 608728
Disease Ontology10 DOID:0080027
Orphanet51 156728
ICD10 via Orphanet28 Q77.7
MedGen34 C1837481
MeSH36 D001848
UMLS65 C0432211

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 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 craniofacial and limbs/digits/tail.

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 56)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type32.6ACAN, COL2A1
2spondyloepimetaphyseal dysplasia, missouri type12.4
3spondyloepimetaphyseal dysplasia with joint laxity, type 212.3
4spondyloepimetaphyseal dysplasia with multiple dislocations12.3
5spondyloepimetaphyseal dysplasia, aggrecan type12.2
6spondyloepimetaphyseal dysplasia, sponastrime type12.2
7spondyloepimetaphyseal dysplasia joint laxity12.2
8spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures12.2
9spondyloepimetaphyseal dysplasia with hypotrichosis12.0
10spondyloepimetaphyseal dysplasia x-linked12.0
11spondyloepimetaphyseal dysplasia genevieve type12.0
12spondyloepimetaphyseal dysplasia shohat type12.0
13spondyloepimetaphyseal dysplasia, papss2 type12.0
14spondyloepimetaphyseal dysplasia micromelic11.9
15spondyloepimetaphyseal dysplasia x-linked with mental deterioration11.9
16spondyloepimetaphyseal dysplasia, bieganski type11.9
17spondyloepimetaphyseal dysplasia-abnormal dentition syndrome11.9
18spondyloepimetaphyseal dysplasia, isidor type11.9
19spondyloepimetaphyseal dysplasia congenita, strudwick type11.9
20spondyloepimetaphyseal dysplasia, irapa type11.9
21spondyloepimetaphyseal dysplasia, handigodu type11.9
22brachyolmia 4 with mild epiphyseal and metaphyseal changes11.6
23spondylometaepiphyseal dysplasia, short limb-hand type11.6
24anauxetic dysplasia11.1
25brown-vialetto-van laere syndrome10.4COL2A1, PAPSS2
26whipple disease10.2COL2A1, MMP13
27spondyloepiphyseal dysplasia with congenital joint dislocations10.0
28metatropic dysplasia10.0
29dyggve-melchior-clausen disease10.0
30leber congenital amaurosis 310.0ACAN, COL2A1
31cataract10.0ACAN, COL2A1
32osteonecrosis10.0ACAN, COL2A1
33stickler syndrome10.0ACAN, COL2A1
34scoliosis10.0
35laryngitis10.0
36retinitis10.0
37hypotrichosis10.0
38retinal detachment10.0
39dysspondyloenchondromatosis10.0
40myopathy with extrapyramidal signs9.9ACAN, COL2A1
41darier disease9.9COL2A1, DDR2, MMP13
42skeleto cardiac syndrome with thrombocytopenia9.9COL2A1, MATN3, PAPSS2
43bone structure disease9.8ACAN, COL2A1
44bone deterioration disease9.8COL2A1, MATN3
45slc16a1-related hyperinsulinism9.8ACAN, COL2A1
46ankylosis9.7COL2A1, DYM
47ischemic bone disease9.7ACAN, MMP13
48bone resorption disease9.6ACAN, COL2A1, MMP13
49dengue disease9.5ACAN, MMP13
50malignant giant cell tumor of the tendon sheath9.5ACAN, 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 20)
id Description Frequency HPO Source Accession
1 posterior rib cupping HP:0000922
2 platyspondyly HP:0000926
3 limited elbow extension HP:0001377
4 waddling gait HP:0002515
5 spondyloepimetaphyseal dysplasia HP:0002651
6 narrow iliac wings HP:0002868
7 lumbar hyperlordosis HP:0002938
8 bowing of the legs HP:0002979
9 micromelia HP:0002983
10 metaphyseal widening HP:0003016
11 short long bone HP:0003026
12 hypoplastic pubic bone HP:0003173
13 flat acetabular roof HP:0003180
14 ovoid vertebral bodies HP:0003300
15 metaphyseal spurs HP:0005054
16 thoracic hypoplasia HP:0005257
17 dysplastic iliac wings HP:0008794
18 disproportionate short-limb short stature HP:0008873
19 irregular epiphyses HP:0010582
20 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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Anatomical Context for Spondyloepimetaphyseal Dysplasia

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MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

33
Bone, B cells, Brain, Thyroid, Breast, T cells, Skin

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:00053828.0COL2A1, DDR2, DYM, PAPSS2
2MP:00053717.7COL2A1, DDR2, DYM, MATN3, MMP13, PAPSS2
3MP:00053907.6COL2A1, DDR2, DYM, MATN3, MMP13, PAPSS2

Publications for Spondyloepimetaphyseal Dysplasia

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Articles related to Spondyloepimetaphyseal Dysplasia:

(show all 31)
idTitleAuthorsYear
1
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. (27102849)
2016
2
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). (26250472)
2015
3
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. (25256152)
2014
4
BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA-STRUDWICK TYPE. (25383842)
2014
5
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. (24766538)
2014
6
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. (23956136)
2013
7
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. (23665482)
2013
8
Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. (23633440)
2013
9
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. (21818555)
2011
10
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (22152677)
2011
11
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. (19277648)
2009
12
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. (18841068)
2008
13
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. (18256824)
2008
14
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. (17676604)
2007
15
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities. (17090519)
2006
16
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. (16280719)
2006
17
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). (16167086)
2005
18
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. (15726110)
2005
19
Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. (16088915)
2005
20
Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. (15727611)
2005
21
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. (14755468)
2004
22
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? (15194947)
2004
23
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. (12925722)
2003
24
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature. (12966527)
2003
25
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance. (12205110)
2002
26
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. (9714015)
1998
27
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (9771708)
1998
28
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (9678701)
1998
29
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD). (8723096)
1996
30
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. (7550321)
1995
31
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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Biological processes related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:000195810.2COL2A1, MMP13
2collagen fibril organizationGO:003019910.0ACAN, COL2A1
3cartilage developmentGO:00512169.9COL2A1, MMP13
4skeletal system developmentGO:00015019.9COL2A1, PAPSS2
5collagen catabolic processGO:00305749.6COL2A1, MMP13
6ossificationGO:00015039.6COL2A1, DDR2
7extracellular matrix disassemblyGO:00226179.1ACAN, COL2A1, MMP13

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