SEDC
MCID: SPN008
MIFTS: 56

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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NIH Rare Diseases:42 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 based summary: Spondyloepiphyseal Dysplasia Congenita, also known as sed congenita, is related to multiple epiphyseal dysplasia and achondroplasia, and has symptoms including short neck, 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:46 183900

Aliases & Classifications for Spondyloepiphyseal Dysplasia Congenita

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Sources:
8Disease Ontology, 65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Spondyloepiphyseal Dysplasia Congenita, Aliases & Descriptions:

Name: Spondyloepiphyseal Dysplasia Congenita 8 65 42 20 22 21 10 48
Sed Congenita 65 42 21 46 44
Sedc 65 42 21 48
Spondyloepiphyseal Dysplasia, Congenital Type 42 21
Late Spondyloepiphyseal Dysplasia 8 62
 
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 8
Spondyloepiphyseal Dysplasia, Congenita 62
Congenital Spondyloepiphyseal Dysplasia 48
Spranger-Wiedemann Disease 48
Sed, Congenital Type 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology8 DOID:14789
OMIM46 183900
MESH via Orphanet35 C535788
SNOMED-CT57 51952004
ICD10 via Orphanet26 Q77.7
UMLS via Orphanet63 C2745959
ICD1025 Q77.7

Related Diseases for Spondyloepiphyseal Dysplasia Congenita

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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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Symptoms by clinical synopsis from OMIM:

183900

Clinical features from OMIM:

183900

Symptoms:

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

HPO human phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

(show all 56)
id Description Frequency HPO Source Accession
1 short neck hallmark (90%) HP:0000470
2 narrow chest hallmark (90%) HP:0000774
3 skeletal dysplasia hallmark (90%) HP:0002652
4 micromelia hallmark (90%) HP:0002983
5 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
6 short stature hallmark (90%) HP:0004322
7 abnormality of the epiphyses hallmark (90%) HP:0005930
8 short thorax hallmark (90%) HP:0010306
9 cleft palate typical (50%) HP:0000175
10 malar flattening typical (50%) HP:0000272
11 hypertelorism typical (50%) HP:0000316
12 broad forehead typical (50%) HP:0000337
13 limitation of joint mobility typical (50%) HP:0001376
14 talipes typical (50%) HP:0001883
15 osteoarthritis typical (50%) HP:0002758
16 abnormality of the hip bone typical (50%) HP:0003272
17 hyperlordosis typical (50%) HP:0003307
18 hearing impairment occasional (7.5%) HP:0000365
19 glaucoma occasional (7.5%) HP:0000501
20 cataract occasional (7.5%) HP:0000518
21 retinal detachment occasional (7.5%) HP:0000541
22 myopia occasional (7.5%) HP:0000545
23 nystagmus occasional (7.5%) HP:0000639
24 scoliosis occasional (7.5%) HP:0002650
25 kyphosis occasional (7.5%) HP:0002808
26 autosomal dominant inheritance HP:0000006
27 cleft palate HP:0000175
28 malar flattening HP:0000272
29 short neck HP:0000470
30 retinal detachment HP:0000541
31 myopia HP:0000545
32 vitreoretinal degeneration HP:0000655
33 pectus carinatum HP:0000768
34 platyspondyly HP:0000926
35 muscular hypotonia HP:0001252
36 barrel-shaped chest HP:0001552
37 talipes equinovarus HP:0001762
38 restrictive lung disease HP:0002091
39 respiratory distress HP:0002098
40 cervical myelopathy HP:0002318
41 waddling gait HP:0002515
42 scoliosis HP:0002650
43 kyphosis HP:0002808
44 coxa vara HP:0002812
45 hip dislocation HP:0002827
46 lumbar hyperlordosis HP:0002938
47 limited elbow movement HP:0002996
48 flattened epiphyses HP:0003071
49 ovoid vertebral bodies HP:0003300
50 hypoplasia of the odontoid process HP:0003311
51 delayed calcaneal ossification HP:0008142
52 delayed pubic bone ossification HP:0008788
53 limited hip movement HP:0008800
54 neonatal short-trunk short stature HP:0008857
55 limitation of knee mobility HP:0010501
56 flat face HP:0012368

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Congenita

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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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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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MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia Congenita:

32
Bone, Eye, Lung

Animal Models for Spondyloepiphyseal Dysplasia Congenita or affiliated genes

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MGI Mouse Phenotypes related to Spondyloepiphyseal Dysplasia Congenita:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5GALNS, COL2A1, COMP

Publications for Spondyloepiphyseal Dysplasia Congenita

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Articles related to Spondyloepiphyseal Dysplasia Congenita:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family. (24736929)
2014
2
A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita. (23932928)
2013
3
Structural variations in articular cartilage matrix are associated with early-onset osteoarthritis in the spondyloepiphyseal dysplasia congenita (sedc) mouse. (23939426)
2013
4
Modified lightwand intubation in a child with spondyloepiphyseal dysplasia congenita. (21729813)
2011
5
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. (21204228)
2011
6
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. (21924244)
2011
7
Spondyloepiphyseal dysplasia congenita. (20055564)
2010
8
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. (19072565)
2008
9
Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita. (17920052)
2008
10
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita. (17509551)
2007
11
The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita. (17821829)
2007
12
Treatment of pulmonary hypertension with sildenafil in a neonate with spondyloepiphyseal dysplasia congenita. (16966128)
2006
13
Thoracolumbar kyphosing scoliosis associated with spondyloepiphyseal dysplasia congenita: a case report. (15795968)
2005
14
Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. (15507788)
2004
15
Spondyloepiphyseal dysplasia congenita with absent femoral head. (15076581)
2004
16
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. (12968670)
2003
17
Cleft palate repair in spondyloepiphyseal dysplasia congenita: minimizing the risk of cervical cord compression. (14577812)
2003
18
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. (14558035)
2003
19
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
20
Cleft palate in spondyloepiphyseal dysplasia congenita: case reports. (11878179)
2001
21
Improvement in daily activities using a portable ventilator in a patient with spondyloepiphyseal dysplasia congenita. (11380934)
2001
22
Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. (10743764)
2000
23
Spondyloepiphyseal dysplasia congenita: report of one case. (10910613)
1999
24
Massive pyramidal tract signs after endotracheal intubation: a case report of spondyloepiphyseal dysplasia congenita. (9822019)
1998
25
Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. (9801784)
1998
26
Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications. (8694336)
1996
27
Spondyloepiphyseal dysplasia congenita with ventilator dependence: two case reports. (8931537)
1996
28
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. (7752132)
1995
29
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. (7586642)
1995
30
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. (7847372)
1995
31
Retinal detachment in spondyloepiphyseal dysplasia congenita. (8245210)
1993
32
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. (1453438)
1992
33
Spondyloepiphyseal dysplasia congenita. Caesarean section under epidural anaesthesia. (1887971)
1991
34
Diagnosis of atlantoaxial subluxation in Morquio's syndrome and spondyloepiphyseal dysplasia congenita. (1799117)
1991
35
Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita. (2034354)
1991
36
Respiratory complications in children with spondyloepiphyseal dysplasia congenita. (2388781)
1990
37
Antenatal sonographic appearance of spondyloepiphyseal dysplasia congenita. (2407865)
1990
38
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). (1971141)
1990
39
Spondyloepiphyseal dysplasia congenita. Light and electron microscopic studies of the eye. (3977716)
1985
40
Genetic heterogeneity in spondyloepiphyseal dysplasia congenita. (6431817)
1984
41
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
42
Spondyloepiphyseal dysplasia congenita: case report. (6298817)
1982
43
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. (6807266)
1982
44
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita? (6817636)
1982
45
A variant of spondyloepiphyseal dysplasia congenita (Spranger-Wiedemann). (6819576)
1982
46
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
47
Spondyloepiphyseal dysplasia congenita. A comparative study of chondrocytic inclusions. (6244801)
1980
48
Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. (6773018)
1980
49
Thoracic dysplasia in spondyloepiphyseal dysplasia congenita. (405862)
1977
50
Spondyloepiphyseal dysplasia congenita. (4218776)
1974

Variations for Spondyloepiphyseal Dysplasia Congenita

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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1COL2A1COL2A1, 390-BP DELdeletionPathogenic
2COL2A1COL2A1, 45-BP DUP, EX48duplicationPathogenic
3COL2A1NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)single nucleotide variantPathogenicrs121912870GRCh37Chr 12, 48369754: 48369754
4COL2A1NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys)single nucleotide variantPathogenicrs121912874GRCh37Chr 12, 48372112: 48372112
5COL2A1NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg)single nucleotide variantPathogenicrs121912883GRCh37Chr 12, 48369826: 48369826
6COL2A1NM_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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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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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 adhesion37
Focal Adhesion37
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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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Spondyloepiphyseal Dysplasia Congenita according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1keratan sulfate449.4GALNS, COMP
2dermatan sulfate449.3GALNS, COMP
3pentosidine449.3COMP, COL2A1
4pyridinoline449.3COL2A1, COMP
5alginate449.2COMP, COL2A1
6chondroitin sulfate44 2410.2COMP, GALNS
7procollagen449.2COL2A1, COMP
8hyaluronic acid44 2410.1GALNS, COMP
9oligonucleotide449.0COL2A1, COMP
10vitamin d448.9COL2A1, COMP
11glycosaminoglycan448.8GALNS, COL2A1, COMP
12sulfate44 249.8COMP, COL2A1, GALNS
13agarose448.8GALNS, COL2A1, COMP
14aspartate448.7GALNS, COL2A1, COMP
15cysteine448.6GALNS, COL2A1, COMP
16calcium44 50 24 1111.2COMP, COL2A1, GALNS

GO Terms for genes affiliated with Spondyloepiphyseal Dysplasia Congenita

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet