MCID: SPN250
MIFTS: 50

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 77)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type33.2ACAN, COL2A1
2spondyloepimetaphyseal dysplasia, missouri type12.7
3spondyloepimetaphyseal dysplasia with joint laxity, type 212.7
4spondyloepimetaphyseal dysplasia, aggrecan type12.6
5spondyloepimetaphyseal dysplasia, sponastrime type12.6
6spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures12.6
7spondyloepimetaphyseal dysplasia with multiple dislocations12.5
8spondyloepimetaphyseal dysplasia joint laxity12.5
9spondyloepimetaphyseal dysplasia with hypotrichosis12.4
10spondyloepimetaphyseal dysplasia x-linked12.4
11spondyloepimetaphyseal dysplasia genevieve type12.4
12spondyloepimetaphyseal dysplasia shohat type12.4
13spondyloepimetaphyseal dysplasia, papss2 type12.4
14spondyloepimetaphyseal dysplasia micromelic12.3
15spondyloepimetaphyseal dysplasia x-linked with mental deterioration12.3
16spondyloepimetaphyseal dysplasia, bieganski type12.3
17spondyloepimetaphyseal dysplasia-abnormal dentition syndrome12.3
18spondyloepimetaphyseal dysplasia, isidor type12.3
19spondyloepimetaphyseal dysplasia congenita, strudwick type12.3
20spondyloepimetaphyseal dysplasia, irapa type12.3
21spondyloepimetaphyseal dysplasia, handigodu type12.3
22brachyolmia 4 with mild epiphyseal and metaphyseal changes12.0
23spondylometaepiphyseal dysplasia, short limb-hand type12.0
24anauxetic dysplasia11.5
25spondyloepiphyseal dysplasia with congenital joint dislocations10.4
26metatropic dysplasia10.4
27dyggve-melchior-clausen disease10.4
28rheumatoid arthritis10.2
29myocardial infarction10.2
30endometrial cancer10.2
31acute myocardial infarction10.2
32arthritis10.2
33atherosclerosis10.2
34b-cell lymphomas10.2
35bipolar disorder10.2
36marginal zone b-cell lymphoma10.2
37motor neuron disease10.2
38lymphoma10.2
39diphtheria10.2
40mononeuropathy10.2
41cutaneous diphtheria10.2
42skeletal tuberculosis10.2
43klinefelter's syndrome10.2
44basal cell carcinoma10.2
45thrombophlebitis10.2
46tuberculosis10.2
47neuronitis10.2
48influenza10.2
49lung disease10.2
50bullous pemphigoid10.2

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, T cells, Breast, Brain, Thyroid, 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 30)
idTitleAuthorsYear
1
Unilateral Ankylosis of Temporomandibular Joint (TMJ) with Contralateral Condylar Aplasia and Related Orthopedic Deformity - Syndromic or Nonsyndromic? (25738097)
2015
2
Induction of Inhibitory Receptors on T Cells During Plasmodium vivax Malaria Impairs Cytokine Production. (26019284)
2015
3
The role of radiotherapy in the management of sinonasal melanoma and its impact on patients and healthcare professionals. (24366616)
2013
4
Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation. (23288902)
2013
5
High expression of inositol polyphosphate phosphatase-like 1 associates with unfavorable survival in hepatocellular carcinoma. (24228114)
2013
6
Serum kallikrein-8 correlates with skin activity, but not psoriatic arthritis, in patients with psoriatic disease. (23096109)
2013
7
NINJ2 SNP may affect the onset age of first-ever ischemic stroke without increasing silent cerebrovascular lesions. (22429733)
2012
8
Condensed chromatin staining of CKAP2 as surrogate marker for mitotic figures. (22020800)
2012
9
Sickle cell disease in children: accuracy of imaging transcranial Doppler ultrasonography in detection of intracranial arterial stenosis. (24029032)
2012
10
Reevaluating cathepsin D as a biomarker for breast cancer: serum activity levels versus histopathology. (19923884)
2010
11
A suspicion of chikungunya leading to a diagnosis of angioimmunoblastic T-cell lymphoma. (19173091)
2009
12
Defining the macroscopic and microscopic findings of experimental focal brain ischemia in rats from a forensic scientist's point of view. (19237849)
2009
13
Association between Val66Met brain-derived neurotrophic factor (BDNF) gene polymorphism and post-treatment relapse in alcohol dependence. (19170664)
2009
14
Agmatine and imidazoline receptors: their role in opioid analgesia, tolerance and dependence. (17653850)
2008
15
Outbreak of exogenous Cushing's syndrome due to unlicensed medications. (18462262)
2008
16
The presence of ascorbate induces expression of brain derived neurotrophic factor in SH-SY5Y neuroblastoma cells after peroxide insult, which is associated with increased survival. (15627972)
2005
17
AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner. (15671247)
2005
18
Nurr1, an orphan nuclear receptor with essential functions in developing dopamine cells. (15340833)
2004
19
Goitrogenic content of Indian cyanogenic plant foods &amp; their in vitro anti-thyroidal activity. (15218979)
2004
20
Lack of apparent short-term benefit of photodynamic therapy in bilateral, acquired, parafoveal telangiectasis without subretinal neovascularization. (15531343)
2004
21
Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy. (12544240)
2003
22
LMNA mutations in atypical Werner's syndrome. (14615128)
2003
23
Idiopathic CD4+ T lymphocytopenia presenting as progressive multifocal leukoencephalopathy: case report. (9114221)
1997
24
flt3 ligand in cooperation with transforming growth factor-beta1 potentiates in vitro development of Langerhans-type dendritic cells and allows single-cell dendritic cell cluster formation under serum-free conditions. (9269760)
1997
25
Peritoneal dialysis does not reduce serum porphyrin levels in porphyria cutanea tarda. (1553013)
1992
26
The changing spectrum of splenic abscess. (2684371)
1989
27
Polycystic ovarian disease: endocrinological parameters with specific reference to growth hormone and somatomedin-C. (3408273)
1988
28
Traumatic coma during pregnancy with persistent vegetative state. Case report. (6433967)
1984
29
Epileptic Kluver-Bucy syndrome: case report. (6693368)
1984
30
Toxoplasmic chorioretinitis affecting the macula. (577367)
1977

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