MCID: SPN250
MIFTS: 36

Spondyloepimetaphyseal Dysplasia

Categories: Bone diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepimetaphyseal Dysplasia 11 75 5 14
Dysplasia, Spondyloepimetaphyseal 38

Classifications:



External Ids:

Disease Ontology 11 DOID:0080027

Summaries for Spondyloepimetaphyseal Dysplasia

Disease Ontology: 11 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 dysplasia, spondyloepimetaphyseal, is related to spondyloepimetaphyseal dysplasia, missouri type and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondyloepimetaphyseal Dysplasia is RPL13 (Ribosomal Protein L13), and among its related pathways/superpathways are Extracellular matrix organization and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include vertebral column, epiphysis and metaphysis, and related phenotypes are limbs/digits/tail and skeleton

Wikipedia: 75 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 157)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, missouri type 33.1 MMP13 ACAN
2 spondyloepimetaphyseal dysplasia, strudwick type 33.1 TRPV4 COL2A1 ACAN
3 spondyloepimetaphyseal dysplasia with joint laxity 32.9 KIF22 EXOC6B B3GALT6
4 spondyloepimetaphyseal dysplasia, x-linked 32.9 EXOC6B BGN AIFM1
5 spondyloepimetaphyseal dysplasia, sponastrime type 32.8 TONSL NANS
6 metatropic dysplasia 32.3 TRPV4 COL2A1 ACAN
7 coxa vara 30.7 TONSL MMP13 COL2A1
8 arthropathy 30.5 TRPV4 MMP13 COL2A1 ACAN
9 spondyloepiphyseal dysplasia congenita 30.4 MATN3 DDR2 COL2A1
10 osteoarthritis 30.4 MMP13 MATN3 DDR2 COL2A1 ACAN
11 larsen syndrome 30.3 PAPSS2 COL2A1 B3GALT6
12 beukes hip dysplasia 30.3 UFSP2 DDRGK1
13 ehlers-danlos syndrome 30.3 COL2A1 BGN B3GALT6 ACAN
14 hypochondrogenesis 30.3 MATN3 COL2A1 ACAN
15 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 SMARCAL1 PAPSS2 COL2A1 B3GALT6 ACAN
16 achondrogenesis, type ii 30.3 MATN3 COL2A1 ACAN
17 achondrogenesis 30.3 MATN3 COL2A1 ACAN
18 osteochondrodysplasia 30.2 TRPV4 SMARCAL1 PAPSS2 MMP13 MATN3 KIF22
19 brachydactyly 30.2 TRPV4 RSPRY1 PAPSS2 DDR2 COL2A1 BGN
20 scoliosis 30.2 TRPV4 TONSL MMP13 KIF22 EXOC6B COL2A1
21 multiple epiphyseal dysplasia 30.2 MATN3 COL2A1 ACAN
22 pseudoachondroplasia 30.2 MATN3 COL2A1 ACAN
23 stickler syndrome 30.2 MATN3 COL2A1 ACAN
24 bone disease 29.5 MMP13 MATN3 KIF22 DDR2 COL2A1 BGN
25 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.8
26 spondylometaepiphyseal dysplasia, short limb-hand type 11.8
27 spondyloepimetaphyseal dysplasia with multiple dislocations 11.7
28 spondyloepimetaphyseal dysplasia, genevieve type 11.7
29 brachyolmia type 4 with mild epiphyseal and metaphyseal changes 11.7
30 spondyloepimetaphyseal dysplasia, shohat type 11.7
31 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 11.7
32 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type 11.7
33 spondyloepimetaphyseal dysplasia, aggrecan type 11.7
34 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.7
35 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.7
36 spondyloepimetaphyseal dysplasia, faden-alkuraya type 11.7
37 spondyloepimetaphyseal dysplasia, di rocco type 11.6
38 spondyloepimetaphyseal dysplasia, krakow type 11.6
39 spondyloepimetaphyseal dysplasia with hypotrichosis 11.6
40 anauxetic dysplasia 1 11.6
41 handigodu joint disease 11.6
42 spondyloepimetaphyseal dysplasia, isidor-toutain type 11.6
43 spondyloepimetaphyseal dysplasia with abnormal dentition 11.5
44 spondyloepimetaphyseal dysplasia, irapa type 11.5
45 spondyloepimetaphyseal dysplasia, isidor type 11.4
46 anauxetic dysplasia 2 11.3
47 liberfarb syndrome 11.2
48 spondyloepimetaphyseal dysplasia, micromelic 11.2
49 dyggve-melchior-clausen disease 11.2
50 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 11.2

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



Diseases related to Spondyloepimetaphyseal Dysplasia

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ACAN AIFM1 B3GALT6 BGN COL2A1 DDR2
2 no effect GR00402-S-2 10.13 ACAN AIFM1 B3GALT6 BGN COL2A1 DDRGK1

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.76 ACAN BGN COL2A1 DDR2 DDRGK1 MATN3
2 skeleton MP:0005390 9.65 ACAN BGN COL2A1 DDR2 DDRGK1 MATN3
3 mortality/aging MP:0010768 9.47 ACAN AIFM1 B3GALT6 BGN COL2A1 DDR2

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepimetaphyseal Dysplasia

Anatomical Context for Spondyloepimetaphyseal Dysplasia

Organs/tissues related to Spondyloepimetaphyseal Dysplasia:

FMA: Vertebral Column, Epiphysis, Metaphysis
MalaCards : Bone, Skin, Brain

Publications for Spondyloepimetaphyseal Dysplasia

Articles related to Spondyloepimetaphyseal Dysplasia:

(show top 50) (show all 147)
# Title Authors PMID Year
1
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. 62 5
23956136 2013
2
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. 62
35776137 2023
3
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation. 62
36243336 2022
4
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). 62
36224347 2022
5
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy. 62
36136119 2022
6
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature. 62
35670300 2022
7
DDRGK1 is required for the proper development and maintenance of the growth plate cartilage. 62
35377455 2022
8
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient. 62
36158050 2022
9
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1. 62
35427807 2022
10
Tyrosine-sulfated dermatopontin shares multiple binding sites and recognition determinants on triple-helical collagens with proteins implicated in cell adhesion and collagen folding, fibrillogenesis, cross-linking, and degradation. 62
35306228 2022
11
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review. 62
35434101 2022
12
Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report. 62
34749805 2021
13
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature. 62
34405953 2021
14
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. 62
34159694 2021
15
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature. 62
34089299 2021
16
Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia. 62
33247527 2021
17
Bilateral Severe Genu Varum in Dyggve-Melchior-Clausen Syndrome - A Case Report. 62
35004383 2021
18
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type. 62
33859079 2021
19
Sleep-disordered breathing and its management in children with rare skeletal dysplasias. 62
33908178 2021
20
Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021]. 62
33514497 2021
21
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. 62
32916022 2021
22
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders. 62
33398909 2021
23
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis. 62
32959051 2020
24
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report. 62
32755715 2020
25
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features. 62
32886330 2020
26
Growth in individuals with Saul-Wilson syndrome. 62
32652690 2020
27
[Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity]. 62
32761602 2020
28
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. 62
32420688 2020
29
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia. 62
31724101 2020
30
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature. 62
32760686 2020
31
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients. 62
32766185 2020
32
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome. 62
33216345 2020
33
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 62
31630789 2019
34
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 62
30358852 2019
35
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 62
30488656 2019
36
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. 62
30773277 2019
37
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. 62
30124491 2019
38
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 62
29931299 2018
39
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. 62
30063090 2018
40
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. 62
29443383 2018
41
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 62
29464738 2018
42
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 62
28892125 2018
43
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 62
29230159 2017
44
Novel pathogenic ACAN variants in non-syndromic short stature patients. 62
28396070 2017
45
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. 62
28328135 2017
46
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 62
28263186 2017
47
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. 62
27888646 2017
48
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 62
28346368 2017
49
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 62
27102849 2017
50
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 62
26669664 2016

Variations for Spondyloepimetaphyseal Dysplasia

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia:

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

Expression for Spondyloepimetaphyseal Dysplasia

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia.

Pathways for Spondyloepimetaphyseal Dysplasia



Pathways directly related to Spondyloepimetaphyseal Dysplasia:

# Pathway Source
1 Defective B3GALT6 causes EDSP2 and SEMDJL1 Reactome 66
2 Defective CHST3 causes SEDCJD Reactome 66
3 Defective PAPSS2 causes SEMD-PA Reactome 66

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 extracellular matrix GO:0031012 9.32 MMP13 MATN3 COL2A1 BGN ACAN
2 DNA replication factor A complex GO:0005662 8.96 TONSL SMARCAL1

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

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.8 MATN3 DDRGK1 COL2A1
2 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.56 UFSP2 DDRGK1
3 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 TRPV4 COL2A1
4 collagen fibril organization GO:0030199 9.35 DDR2 COL2A1 ACAN
5 bone development GO:0060348 9.17 RPL13 PAPSS2 COL2A1 BGN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.23 MATN3 COL2A1 BGN ACAN

Sources for Spondyloepimetaphyseal Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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