MCID: SPN250
MIFTS: 35

Spondyloepimetaphyseal Dysplasia

Categories: Bone diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepimetaphyseal Dysplasia 12 73 36 6 15
Dysplasia, Spondyloepimetaphyseal 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0080027
KEGG 36 H02187

Summaries for Spondyloepimetaphyseal Dysplasia

KEGG : 36 Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, also known as dysplasia, spondyloepimetaphyseal, is related to spondyloepimetaphyseal dysplasia, missouri type and spondyloepimetaphyseal dysplasia, x-linked. An important gene associated with Spondyloepimetaphyseal Dysplasia is RPL13 (Ribosomal Protein L13), and among its related pathways/superpathways are Degradation of the extracellular matrix and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include vertebral column, epiphysis and metaphysis, 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 : 73 Spondyloepimetaphyseal dysplasia is a genetic condition affecting the... more...

Related Diseases for Spondyloepimetaphyseal Dysplasia

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, missouri type 33.1 MMP13 ACAN
2 spondyloepimetaphyseal dysplasia, x-linked 32.9 RAB33A BGN AIFM1
3 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 32.9 RAB33A AIFM1
4 spondyloepimetaphyseal dysplasia with joint laxity 32.9 KIF22 EXOC6B B3GALT6
5 metatropic dysplasia 32.0 TRPV4 COL2A1
6 spondyloepiphyseal dysplasia with congenital joint dislocations 31.7 TRPV4 PAPSS2 COL2A1 B3GALT6 ACAN
7 coxa vara 30.8 TONSL MMP13 COL2A1
8 metaphyseal dysplasia 30.6 MMP13 MATN3 EXOC6B COL2A1
9 skeletal dysplasias 30.5 TRPV4 PAPSS2 MATN3 COL2A1
10 spondyloepiphyseal dysplasia congenita 30.4 MATN3 COL2A1
11 brachydactyly 30.3 TRPV4 RSPRY1 PAPSS2 COL2A1 BGN ACAN
12 scoliosis 30.3 TRPV4 MMP13 KIF22 EXOC6B COL2A1 ACAN
13 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 30.2 RAB33A AIFM1
14 hypochondrogenesis 30.2 MATN3 COL2A1 ACAN
15 achondrogenesis, type ii 30.2 MATN3 COL2A1 ACAN
16 achondrogenesis 30.2 MATN3 COL2A1 ACAN
17 pseudoachondroplasia 30.2 MATN3 COL2A1 ACAN
18 multiple epiphyseal dysplasia 30.1 MATN3 COL2A1 ACAN
19 stickler syndrome 30.1 MATN3 COL2A1 ACAN
20 beukes hip dysplasia 30.0 UFSP2 DDRGK1
21 osteoarthritis 30.0 MMP13 MATN3 DDR2 COL2A1 ACAN
22 combined oxidative phosphorylation deficiency 6 29.8 RAB33A AIFM1
23 odontochondrodysplasia 29.3 TRPV4 PAPSS2 MMP13 MATN3 KIF22 COL2A1
24 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.9
25 spondyloepimetaphyseal dysplasia, strudwick type 11.8
26 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type 11.7
27 spondyloepimetaphyseal dysplasia, sponastrime type 11.7
28 spondyloepimetaphyseal dysplasia, genevieve type 11.7
29 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 11.7
30 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 11.7
31 spondyloepimetaphyseal dysplasia, shohat type 11.7
32 spondylometaepiphyseal dysplasia, short limb-hand type 11.7
33 spondyloepimetaphyseal dysplasia, aggrecan type 11.7
34 spondyloepimetaphyseal dysplasia, faden-alkuraya type 11.7
35 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.6
36 spondyloepimetaphyseal dysplasia, di rocco type 11.6
37 spondyloepimetaphyseal dysplasia with multiple dislocations 11.6
38 spondyloepimetaphyseal dysplasia, krakow type 11.6
39 handigodu joint disease 11.6
40 spondyloepimetaphyseal dysplasia with hypotrichosis 11.6
41 spondyloepimetaphyseal dysplasia, isidor-toutain type 11.5
42 anauxetic dysplasia 1 11.5
43 spondyloepimetaphyseal dysplasia with abnormal dentition 11.3
44 liberfarb syndrome 11.3
45 spondyloepimetaphyseal dysplasia, irapa type 11.3
46 spondyloepimetaphyseal dysplasia, micromelic 11.2
47 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 11.2
48 dyggve-melchior-clausen disease 11.2
49 anauxetic dysplasia 2 11.2
50 spondyloepimetaphyseal dysplasia, isidor type 11.0

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



Diseases related to Spondyloepimetaphyseal Dysplasia

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.56 BGN COL2A1 DDR2 DDRGK1 MATN3 MMP13
2 skeleton MP:0005390 9.28 BGN COL2A1 DDR2 DDRGK1 MATN3 MMP13

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

Anatomical Context for Spondyloepimetaphyseal Dysplasia

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

19
Vertebral Column, Epiphysis, Metaphysis

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia:

40
Skin

Publications for Spondyloepimetaphyseal Dysplasia

Articles related to Spondyloepimetaphyseal Dysplasia:

(show top 50) (show all 130)
# Title Authors PMID Year
1
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 61 6
23956136 2013
2
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. 61
33398909 2021
3
Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021]. 61
33514497 2021
4
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. 61
32916022 2021
5
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia. 61
33247527 2020
6
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report. 61
32755715 2020
7
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis. 61
32959051 2020
8
Growth in individuals with Saul-Wilson syndrome. 61
32652690 2020
9
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features. 61
32886330 2020
10
[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity]. 61
32761602 2020
11
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. 61
32420688 2020
12
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 61
31724101 2020
13
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients. 61
32766185 2020
14
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome. 61
33216345 2020
15
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature. 61
32760686 2020
16
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 61
31630789 2019
17
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 61
30358852 2019
18
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 61
30488656 2019
19
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 61
30773277 2019
20
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. 61
30124491 2019
21
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 61
29931299 2018
22
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 61
30063090 2018
23
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 61
29464738 2018
24
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. 61
29443383 2018
25
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 61
28892125 2018
26
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 61
29230159 2017
27
Novel pathogenic ACAN variants in non-syndromic short stature patients. 61
28396070 2017
28
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. 61
28328135 2017
29
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 61
28263186 2017
30
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 61
27888646 2017
31
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
32
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 61
27102849 2017
33
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 61
26669664 2016
34
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. 61
27353333 2016
35
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. 61
27236923 2016
36
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 61
27245527 2016
37
Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress. 61
26499313 2015
38
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). 61
26250472 2015
39
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. 61
26365341 2015
40
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 61
24766538 2015
41
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. 61
25652408 2015
42
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 61
25256152 2015
43
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. 61
28649518 2015
44
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type. 61
25383842 2015
45
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. 61
26582078 2015
46
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells. 61
25196597 2014
47
Occipitocervical fusion in skeletal dysplasia: a new surgical technique. 61
24825152 2014
48
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
49
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. 61
24300288 2014
50
Dyggve-Melchiore-Clausen dysplasia (DMC): syndrome associated with a micropenis. 61
24575553 2013

Variations for Spondyloepimetaphyseal Dysplasia

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL13 NM_000977.3(RPL13):c.548G>T (p.Arg183Leu) SNV Pathogenic 689803 rs1597676540 GRCh37: 16:89629362-89629362
GRCh38: 16:89562954-89562954
2 RPL13 NM_000977.3(RPL13):c.477+1G>T SNV Pathogenic 689800 rs1597675888 GRCh37: 16:89628800-89628800
GRCh38: 16:89562392-89562392
3 RPL13 NM_000977.3(RPL13):c.477+2T>C SNV Pathogenic 689801 rs1597675890 GRCh37: 16:89628801-89628801
GRCh38: 16:89562393-89562393
4 RPL13 NM_000977.3(RPL13):c.477+1G>A SNV Pathogenic 689802 rs1597675888 GRCh37: 16:89628800-89628800
GRCh38: 16:89562392-89562392
5 DDR2 NM_006182.4(DDR2):c.*171_*172AC[1] Microsatellite Uncertain significance 293386 rs886045500 GRCh37: 1:162750207-162750208
GRCh38: 1:162780417-162780418
6 DDR2 NM_006182.4(DDR2):c.*188del Deletion Uncertain significance 293387 rs5778295 GRCh37: 1:162750211-162750211
GRCh38: 1:162780421-162780421
7 MMP13 NM_002427.4(MMP13):c.*849dup Duplication Uncertain significance 301963 rs886047552 GRCh37: 11:102814145-102814146
GRCh38: 11:102943416-102943417
8 MMP13 NM_002427.4(MMP13):c.*374_*376dup Duplication Uncertain significance 301969 rs886047556 GRCh37: 11:102814618-102814619
GRCh38: 11:102943889-102943890
9 MMP13 NM_002427.4(MMP13):c.*997dup Duplication Benign 301961 rs35477433 GRCh37: 11:102813997-102813998
GRCh38: 11:102943268-102943269
10 DDR2 NM_006182.4(DDR2):c.*187_*188del Deletion Benign 293388 rs5778295 GRCh37: 1:162750211-162750212
GRCh38: 1:162780421-162780422

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 MMP13 MATN3 DDR2 COL2A1 BGN ACAN
2 11.48 COL2A1 BGN ACAN
3 11.19 MATN3 BGN ACAN
4 11.07 MMP13 DDR2 COL2A1 ACAN
5 10.48 DDR2 COL2A1 BGN ACAN

GO Terms for Spondyloepimetaphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.26 MATN3 COL2A1 BGN ACAN
2 extracellular matrix GO:0031012 9.02 MMP13 MATN3 COL2A1 BGN ACAN

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

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.5 RPL13 COL2A1 BGN
2 chondroitin sulfate biosynthetic process GO:0030206 9.48 BGN B3GALT6
3 proteoglycan biosynthetic process GO:0030166 9.46 B3GALT6 ACAN
4 skeletal system development GO:0001501 9.46 PAPSS2 MATN3 COL2A1 ACAN
5 cartilage condensation GO:0001502 9.43 COL2A1 ACAN
6 collagen fibril organization GO:0030199 9.43 DDR2 COL2A1 ACAN
7 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.4 UFSP2 DDRGK1
8 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.37 TRPV4 COL2A1
9 cartilage development GO:0051216 9.26 MMP13 MATN3 DDRGK1 COL2A1
10 extracellular matrix organization GO:0030198 9.1 MMP13 MATN3 DDR2 COL2A1 BGN ACAN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.96 BGN ACAN
2 extracellular matrix structural constituent GO:0005201 8.92 MATN3 COL2A1 BGN ACAN

Sources for Spondyloepimetaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....