SEDC
MCID: SPN008
MIFTS: 55

Spondyloepiphyseal Dysplasia Congenita (SEDC) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Spondyloepiphyseal Dysplasia Congenita

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. arthritis and decreased joint mobility often develop early in life. more than 175 cases have been reported in the scientific literature. this condition is caused by mutations in the col2a1 gene and is inherited in an autosomal dominant pattern. most cases result from new mutations in the gene and occur in people with no family history of the condition. last updated: 1/11/2012

MalaCards: Spondyloepiphyseal Dysplasia Congenita, also known as sed congenita, is related to achondroplasia and osteoarthritis, and has symptoms including cleft palate without cleft lip/submucosal cleft palate/bifid uvula, narrow rib cage/thorax and short rib cage/thorax. An important gene associated with Spondyloepiphyseal Dysplasia Congenita is COL2A1 (collagen, type II, alpha 1), and among its related pathways are PI3K-Akt signaling pathway and Focal adhesion. The compounds keratan sulfate and dermatan sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and lung, and related mouse phenotype skeleton.

Genetics Home Reference:21 Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.

Wikipedia:65 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

Description from OMIM:47 183900

Aliases & Classifications for Spondyloepiphyseal Dysplasia Congenita

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 62UMLS, 47OMIM, 45Novoseek, 58SNOMED-CT, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant


Aliases & Descriptions:

spondyloepiphyseal dysplasia congenita 8 65 43 20 22 21 10 49
sed congenita 65 43 21 47 45
sedc 65 43 21 49
spondyloepiphyseal dysplasia, congenital type 43 21
late spondyloepiphyseal dysplasia 8 62
spondyloepiphyseal dysplasia tarda, x-linked; sedt 8
spondyloepiphyseal dysplasia, congenita 62
congenital spondyloepiphyseal dysplasia 49
spranger-wiedemann disease 49
sed, congenital type 21


External Ids:

Disease Ontology8 DOID:14789
OMIM47 183900
SNOMED-CT via Orphanet59 367530008, 278713008
ICD10 via Orphanet26 Q77.7
SNOMED-CT58 51952004
UMLS via Orphanet63 C2745959
MESH via Orphanet36 C535788
ICD1025 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia Congenita

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Spondyloepiphyseal Dysplasia Congenita:



Diseases related to spondyloepiphyseal dysplasia congenita

Symptoms for Spondyloepiphyseal Dysplasia Congenita

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

183900

Clinical features from OMIM:

183900

Symptoms:

49 (show all 26)
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • narrow rib cage/thorax
  • short rib cage/thorax
  • flat face
  • talipes-varus/metatarsal varus
  • broad forehead
  • myopia
  • glaucoma
  • retinal detachment
  • short limbs/micromelia/brachymelia
  • short stature/dwarfism/nanism
  • restricted joint mobility/joint stiffness/ankylosis
  • abnormal vertebral size/shape
  • short neck
  • epiphyseal anomaly
  • osteoarthritis
  • scoliosis
  • nystagmus
  • kyphosis
  • autosomal dominant inheritance
  • lordosis
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hypertelorism

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Congenita

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Spondyloepiphyseal Dysplasia Congenita

Search NIH Clinical Center for Spondyloepiphyseal Dysplasia Congenita

Genetic Tests for Spondyloepiphyseal Dysplasia Congenita

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20GeneTests, 22GTR
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Genetic tests related to Spondyloepiphyseal Dysplasia Congenita:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Congenita20 22 COL2A1

Anatomical Context for Spondyloepiphyseal Dysplasia Congenita

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33MalaCards
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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Congenita:

33
Bone, Eye, Lung

Animal Models for Spondyloepiphyseal Dysplasia Congenita or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5GALNS, COL2A1, COMP

Publications for Spondyloepiphyseal Dysplasia Congenita

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52PubMed
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Articles related to Spondyloepiphyseal Dysplasia Congenita:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. (23932928)
2013
2
Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse. (23939426)
2013
3
Modified lightwand intubation in a child with spondyloepiphyseal dysplasia congenita. (21729813)
2011
4
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. (21204228)
2011
5
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. (21924244)
2011
6
Spondyloepiphyseal dysplasia congenita. (20055564)
2010
7
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. (19072565)
2008
8
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita. (17920052)
2008
9
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. (17509551)
2007
10
The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita. (17821829)
2007
11
Treatment of pulmonary hypertension with sildenafil in a neonate with spondyloepiphyseal dysplasia congenita. (16966128)
2006
12
Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. (15795968)
2005
13
Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. (15507788)
2004
14
Spondyloepiphyseal dysplasia congenita with absent femoral head. (15076581)
2004
15
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. (12968670)
2003
16
Cleft palate repair in spondyloepiphyseal dysplasia congenita: minimizing the risk of cervical cord compression. (14577812)
2003
17
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. (14558035)
2003
18
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
19
Cleft palate in spondyloepiphyseal dysplasia congenita: case reports. (11878179)
2001
20
Improvement in daily activities using a portable ventilator in a patient with spondyloepiphyseal dysplasia congenita. (11380934)
2001
21
Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. (10743764)
2000
22
Spondyloepiphyseal dysplasia congenita: report of one case. (10910613)
1999
23
Massive pyramidal tract signs after endotracheal intubation: a case report of spondyloepiphyseal dysplasia congenita. (9822019)
1998
24
Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. (9801784)
1998
25
Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications. (8694336)
1996
26
Spondyloepiphyseal dysplasia congenita with ventilator dependence: two case reports. (8931537)
1996
27
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. (7752132)
1995
28
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. (7586642)
1995
29
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. (7847372)
1995
30
Retinal detachment in spondyloepiphyseal dysplasia congenita. (8245210)
1993
31
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. (1453438)
1992
32
Spondyloepiphyseal dysplasia congenita. Caesarean section under epidural anaesthesia. (1887971)
1991
33
Diagnosis of atlantoaxial subluxation in Morquio's syndrome and spondyloepiphyseal dysplasia congenita. (1799117)
1991
34
Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita. (2034354)
1991
35
Respiratory complications in children with spondyloepiphyseal dysplasia congenita. (2388781)
1990
36
Antenatal sonographic appearance of spondyloepiphyseal dysplasia congenita. (2407865)
1990
37
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). (1971141)
1990
38
Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye. (3977716)
1985
39
Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. (6431817)
1984
40
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
41
Spondyloepiphyseal dysplasia congenita: case report. (6298817)
1982
42
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. (6807266)
1982
43
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? (6817636)
1982
44
A variant of spondyloepiphyseal dysplasia congenita (Spranger-Wiedemann). (6819576)
1982
45
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
46
Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. (6244801)
1980
47
Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. (6773018)
1980
48
Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. (405862)
1977
49
Glycosaminoglycan from the urine of spondyloepiphyseal dysplasia congenita. (127676)
1975
50
Spondyloepiphyseal dysplasia congenita. (4218776)
1974

Variations for Spondyloepiphyseal Dysplasia Congenita

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spondyloepiphyseal Dysplasia Congenita:

64
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly375ArgVAR_001743
2COL2A1p.Gly447SerVAR_001744
3COL2A1p.Gly774SerVAR_001749
4COL2A1p.Gly891ArgVAR_001752
5COL2A1p.Arg989CysVAR_001755
6COL2A1p.Gly1176SerVAR_001763
7COL2A1p.Gly1197SerVAR_001765
8COL2A1p.Thr1439MetVAR_017105
9COL2A1p.Gly1173ArgVAR_017651
10COL2A1p.Gly855SerVAR_023930

Clinvar genetic disease variations for Spondyloepiphyseal Dysplasia Congenita:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)single nucleotide variantPathogenicrs121912870GRCh37Chr 12, 48369754: 48369754
2COL2A1NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys)single nucleotide variantPathogenicrs121912874GRCh37Chr 12, 48372112: 48372112
3COL2A1NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg)single nucleotide variantPathogenicrs121912883GRCh37Chr 12, 48369826: 48369826
4COL2A1NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met)single nucleotide variantPathogenicrs121912886GRCh37Chr 12, 48367873: 48367873

Expression for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Congenita.

Pathways for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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50PathCards, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 54R&D Systems
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Pathways related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL2A1, COMP
2
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.0COL2A1, COMP
3
Show member pathways
9.0COL2A1, COMP
49.0COL2A1, COMP

Compounds for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1keratan sulfate459.4GALNS, COMP
2dermatan sulfate459.3GALNS, COMP
3pentosidine459.3COMP, COL2A1
4pyridinoline459.3COL2A1, COMP
5alginate459.2COMP, COL2A1
6chondroitin sulfate45 2410.2COMP, GALNS
7procollagen459.2COL2A1, COMP
8hyaluronic acid45 2410.1GALNS, COMP
9oligonucleotide459.0COL2A1, COMP
10vitamin d458.9COL2A1, COMP
11glycosaminoglycan458.8GALNS, COL2A1, COMP
12sulfate45 249.8COMP, COL2A1, GALNS
13agarose458.8GALNS, COL2A1, COMP
14aspartate458.7GALNS, COL2A1, COMP
15cysteine458.6GALNS, COL2A1, COMP
16calcium45 51 24 1111.2COMP, COL2A1, GALNS

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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16Gene Ontology
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Biological processes related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.0COL2A1, COMP
2skeletal system developmentGO:0015018.7COL2A1, COMP

Products for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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Sources for Spondyloepiphyseal Dysplasia Congenita

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet