SEDC
MCID: SDC002
MIFTS: 53

Sed Congenita (SEDC) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Sed Congenita

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 52 71 48 24 25 12 50
Spondyloepiphyseal Dysplasia Congenita 52 11 71 48 24 25 54 27 13
Sedc 48 25 54 70
Spondyloepiphyseal Dysplasia, Congenital Type 48 25
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 11
Spondyloepiphyseal Dysplasia Tarda, X-Linked 68
 
Spondyloepiphyseal Dysplasia Congenital Type 70
Congenital Spondyloepiphyseal Dysplasia 54
Spondyloepiphyseal Dysplasia, Congenita 68
Late Spondyloepiphyseal Dysplasia 11
Spranger-Wiedemann Disease 54
Sed, Congenital Type 25

Characteristics:

Orphanet epidemiological data:

54
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe)

HPO:

64
sed congenita:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 183900
Disease Ontology11 DOID:14789
Orphanet54 ORPHA94068
UMLS via Orphanet69 C2745959
ICD10 via Orphanet31 Q77.7
MESH via Orphanet40 C535788

Summaries for Sed Congenita

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NIH Rare Diseases:48 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: Sed Congenita, also known as spondyloepiphyseal dysplasia congenita, is related to smed strudwick type and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including waddling gait, respiratory distress and arthralgia. An important gene associated with Sed Congenita is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Senescence and Autophagy in Cancer and Amoebiasis. Affiliated tissues include bone, and related mouse phenotypes are muscle and digestive/alimentary.

UniProtKB/Swiss-Prot:70 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Genetics Home Reference:25 Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder 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.

OMIM:52 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

Wikipedia:71 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

Related Diseases for Sed Congenita

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Diseases related to Sed Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type31.5ASPN, COL11A1, COL2A1, COMP, GALNS, SEMA3A
2spondyloepiphyseal dysplasia with congenital joint dislocations11.6
3spondyloepiphyseal dysplasia tarda11.0
4cryptophthalmos, unilateral or bilateral, isolated10.4COL10A1, COL2A1
5marshall syndrome10.3COL11A1, COL2A1
6fibrochondrogenesis 110.3COL11A1, COL2A1
7achondrogenesis ib10.3COL2A1, COMP, SLC26A2
8intermediate uveitis10.3COL2A1, COMP, SLC26A2
9cerebral palsy10.3COL10A1, COL2A1, COMP
10hemolytic anemia due to glutathione synthetase deficiency10.3ASPN, COL2A1, COMP
11spondyloperipheral dysplasia10.3COL10A1, COL2A1, SEMA3A
12toenail dystrophy, isolated10.2COL2A1, FGFR3, IHH
13microcephaly-cardiomyopathy10.2COL10A1, MMP13
14cngb3-related stargardt disease 110.2COL1A1, COL1A2
15combined oxidative phosphorylation deficiency 210.2COL2A1, FGFR3, GALNS, SLC26A2
16sp7-related osteogenesis imperfecta10.2COL2A1, COMP, FGFR3, SLC26A2
17coronary heart disease 410.2COL2A1, SLC26A2
18isolated lissencephaly type 1 without known genetic defects10.2COL1A1, COL1A2
19charcot-marie-tooth neuropathy type 2a10.2COL1A1, COL1A2
20prph2-related retinitis pigmentosa10.2COL1A1, COL1A2
2120p13 microdeletion syndrome10.2COL1A1, COL1A2
22phyh-related refsum disease10.2COL1A1, COL1A2
23epileptic encephalopathy, early infantile, 3610.2COL1A1, COL1A2
24alpha-methylacetoacetic aciduria10.2MMP13, SEMA3A
25pilocytic astrocytoma of cerebellum10.2COL1A1, COL2A1
26porphyria cutanea tarda10.2COL1A1, COL1A2
27epiphyseal dysplasia, multiple, with myopia and deafness10.2COL11A1, COL2A1, COMP, SEMA3A
28short stature, optic nerve atrophy, and pelger-huet anomaly10.2COL2A1, DDR2, MMP13
29vitelliform macular dystrophy10.1COMP, FGFR3, FLNA, SLC26A2
30achondroplasia10.1
31pseudoachondroplasia10.1
32splenic flexure cancer10.1COL1A1, COL1A2, SLC26A2
33human herpesvirus 810.1COL1A1, COL1A2
34metatropic dysplasia10.1COL2A1, GALNS, TRAPPC2B
35deafness, autosomal recessive 6110.1COL1A1, COL1A2, FGFR3
36lissencephaly, x-linked 210.1COL2A1, GALNS, TRAPPC2B
37osteogenesis imperfecta, type iii10.1COL1A1, COL1A2
38mental retardation, autosomal recessive 3510.1COL1A1, COL1A2, FGFR3
39factor xiiia deficiency10.1COL1A1, COL1A2, COL3A1
40muscle hypertrophy10.1COL1A1, COL1A2, COL3A1
41bone angioendothelial sarcoma10.1COL2A1, COMP, MMP13
42long qt syndrome 110.1COL1A1, COL1A2, IHH
43sclerocornea10.1COL1A1, COL1A2, COL2A1
44slti salem syndrome10.1COL2A1, COMP, FGFR3, FLNA, SLC26A2
45albright's hereditary osteodystrophy10.1ASPN, COL11A1, COL2A1, COMP, SEMA3A
46muscular dystrophy-dystroglycanopathy10.1COL2A1, IHH, RUNX2
47robinow-sorauf syndrome10.1COL1A2, FGFR3, RUNX2
48plantar nerve lesion10.1COL11A1, COL2A1
49pulmonary hypertension10.1
50osteoarthritis10.1

Graphical network of the top 20 diseases related to Sed Congenita:



Diseases related to sed congenita

Symptoms & Phenotypes for Sed Congenita

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Symptoms by clinical synopsis from OMIM:

183900

Clinical features from OMIM:

183900

Human phenotypes related to Sed Congenita:

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 Frequent (79-30%) HP:0000175
2 short neck64 54 Very frequent (99-80%) HP:0000470
3 glaucoma64 54 Occasional (29-5%) HP:0000501
4 myopia64 54 Occasional (29-5%) HP:0000545
5 nystagmus64 54 Occasional (29-5%) HP:0000639
6 narrow chest64 54 Very frequent (99-80%) HP:0000774
7 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
8 scoliosis64 54 Occasional (29-5%) HP:0002650
9 kyphosis64 54 Occasional (29-5%) HP:0002808
10 coxa vara64 54 Frequent (79-30%) HP:0002812
11 micromelia64 54 Very frequent (99-80%) HP:0002983
12 hyperlordosis64 54 Frequent (79-30%) HP:0003307
13 short stature64 54 Very frequent (99-80%) HP:0004322
14 abnormality of epiphysis morphology64 54 Very frequent (99-80%) HP:0005930
15 short thorax64 54 Very frequent (99-80%) HP:0010306
16 hypertelorism64 54 Frequent (79-30%) HP:0000316
17 broad forehead64 54 Frequent (79-30%) HP:0000337
18 hearing impairment64 54 Occasional (29-5%) HP:0000365
19 cataract64 54 Occasional (29-5%) HP:0000518
20 retinal detachment64 54 Occasional (29-5%) HP:0000541
21 platyspondyly64 54 Very frequent (99-80%) HP:0000926
22 talipes equinovarus64 54 Frequent (79-30%) HP:0001762
23 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
24 osteoarthritis64 54 Frequent (79-30%) HP:0002758
25 flat face64 54 Frequent (79-30%) HP:0012368
26 malar flattening64 HP:0000272
27 vitreoretinal degeneration64 HP:0000655
28 pectus carinatum64 HP:0000768
29 muscular hypotonia64 HP:0001252
30 barrel-shaped chest64 HP:0001552
31 restrictive ventilatory defect64 HP:0002091
32 respiratory distress64 HP:0002098
33 cervical myelopathy64 HP:0002318
34 waddling gait64 HP:0002515
35 spondyloepiphyseal dysplasia64 HP:0002655
36 hip dislocation64 HP:0002827
37 lumbar hyperlordosis64 HP:0002938
38 limited elbow movement64 HP:0002996
39 flattened epiphysis64 HP:0003071
40 ovoid vertebral bodies64 HP:0003300
41 hypoplasia of the odontoid process64 HP:0003311
42 delayed calcaneal ossification64 HP:0008142
43 delayed pubic bone ossification64 HP:0008788
44 limited hip movement64 HP:0008800
45 neonatal short-trunk short stature64 HP:0008857
46 limitation of knee mobility64 HP:0010501

UMLS symptoms related to Sed Congenita:


waddling gait, respiratory distress, arthralgia

MGI Mouse Phenotypes related to Sed Congenita according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9COL1A1, COL1A2, COL3A1, COMP, DDR2, IHH
2MP:00053818.7COL11A1, COL1A1, COL2A1, COL3A1, FGFR3, FLNA
3MP:00053888.4COL11A1, COL1A1, COL2A1, COL3A1, FGFR3, FLNA
4MP:00053828.4COL10A1, COL11A1, COL1A1, COL2A1, DDR2, FGFR3
5MP:00107718.3COL1A1, COL1A2, COL3A1, DDR2, FGFR3, MMP13
6MP:00053918.0COL1A1, COL2A1, DDR2, FGFR3, FLNA, GALNS
7MP:00053857.7COL1A1, COL1A2, COL2A1, COL3A1, COMP, DDR2
8MP:00053717.4ASPN, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1
9MP:00053767.3COL1A1, COL1A2, COL2A1, COL3A1, COMP, DDR2
10MP:00053877.0COL10A1, COL11A1, COL1A1, COL2A1, COL3A1, COMP
11MP:00107686.9COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
12MP:00053786.8COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
13MP:00053846.7COL10A1, COL1A1, COL1A2, COL3A1, DDR2, FGFR3
14MP:00053906.7COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COMP

Drugs & Therapeutics for Sed Congenita

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos SyndromeUnknown statusNCT02144532
2Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754
4Patient Education Program and Ehlers-Danlos SyndromeCompletedNCT02817490

Search NIH Clinical Center for Sed Congenita

Genetic Tests for Sed Congenita

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Genetic tests related to Sed Congenita:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Congenita27 24 COL2A1

Anatomical Context for Sed Congenita

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MalaCards organs/tissues related to Sed Congenita:

36
Bone

Publications for Sed Congenita

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Articles related to Sed Congenita:

idTitleAuthorsYear
1
Morphologic observations on four cases of SED congenita. (4138492)
1974

Variations for Sed Congenita

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UniProtKB/Swiss-Prot genetic disease variations for Sed Congenita:

70
id Symbol AA change Variation ID SNP ID
1COL2A1p.Gly375ArgVAR_001743
2COL2A1p.Gly447SerVAR_001744
3COL2A1p.Gly774SerVAR_001749rs121912867
4COL2A1p.Gly891ArgVAR_001752rs121912879
5COL2A1p.Arg989CysVAR_001755rs121912874
6COL2A1p.Gly1176SerVAR_001763
7COL2A1p.Gly1197SerVAR_001765rs121912870
8COL2A1p.Thr1439MetVAR_017105rs121912886
9COL2A1p.Gly1173ArgVAR_017651rs121912883
10COL2A1p.Gly855SerVAR_023930

Clinvar genetic disease variations for Sed Congenita:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_ 001844.4(COL2A1): c.3490_ 3597del108deletionPathogenicGRCh38Chr 12, 47975961: 47976351
2COL2A1COL2A1, 45-BP DUP, EX48duplicationPathogenic
3COL2A1NM_ 001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)SNVPathogenic/ Likely pathogenicrs121912870GRCh37Chr 12, 48369754: 48369754
4COL2A1NM_ 001844.4(COL2A1): c.2965C> T (p.Arg989Cys)SNVPathogenicrs121912874GRCh37Chr 12, 48372112: 48372112
5COL2A1NM_ 001844.4(COL2A1): c.3517G> C (p.Gly1173Arg)SNVPathogenicrs121912883GRCh37Chr 12, 48369826: 48369826
6COL2A1NM_ 001844.4(COL2A1): c.4316C> T (p.Thr1439Met)SNVPathogenic/ Likely pathogenicrs121912886GRCh37Chr 12, 48367873: 48367873
7COL2A1NM_ 001844.4(COL2A1): c.1358G> C (p.Gly453Ala)SNVPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
8COL2A1NM_ 001844.4(COL2A1): c.1510G> A (p.Gly504Ser)SNVPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
9COL2A1NM_ 001844.4(COL2A1): c.3275G> A (p.Gly1092Asp)SNVLikely pathogenicrs794727684GRCh37Chr 12, 48370937: 48370937
10COL2A1NM_ 001844.4(COL2A1): c.3301G> A (p.Gly1101Arg)SNVPathogenicrs864621973GRCh37Chr 12, 48370911: 48370911
11COL2A1NM_ 001844.4(COL2A1): c.1717G> C (p.Gly573Arg)SNVLikely pathogenicrs886042741GRCh37Chr 12, 48379334: 48379334
12COL2A1NM_ 001844.4(COL2A1): c.1340G> A (p.Gly447Asp)SNVLikely pathogenicrs886043561GRCh37Chr 12, 48380886: 48380886
13COL2A1NM_ 001844.4(COL2A1): c.1636G> A (p.Gly546Ser)SNVPathogenicrs886044555GRCh37Chr 12, 48379555: 48379555

Expression for genes affiliated with Sed Congenita

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Search GEO for disease gene expression data for Sed Congenita.

Pathways for genes affiliated with Sed Congenita

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Pathways related to Sed Congenita according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathwaysScoreTop Affiliating Genes
19.5COL10A1, COL1A1, COL3A1
29.4COL1A1, COL1A2, COL3A1
39.4COL1A1, COL1A2, COL3A1
4
Show member pathways
9.4COL1A1, COL1A2, COL3A1
59.4COL1A1, COL1A2, COL3A1
69.4COL1A1, COL1A2, COL3A1
79.3COL2A1, COMP, DDR2, SDC1
89.2COL2A1, RUNX2, SDC1
99.1COL1A1, COL1A2, COL2A1, COMP, FGFR3
10
Show member pathways
8.8COL1A1, COL1A2, COL2A1, COMP, SDC1
118.8COL1A1, COL1A2, COL2A1, COL3A1, MMP13
128.4COL1A1, COL1A2, IHH, MMP13, RUNX2
13
Show member pathways
8.4COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, COMP
148.3COL10A1, COL2A1, DDR2, FGFR3, IHH, MMP13
15
Show member pathways
8.3COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
16
Show member pathways
8.2COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
17
Show member pathways
7.7COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
18
Show member pathways
7.3COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
19
Show member pathways
7.0ASPN, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1

GO Terms for genes affiliated with Sed Congenita

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Cellular components related to Sed Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.5COL1A1, COL1A2
2endoplasmic reticulum lumenGO:00057889.5COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
3collagen trimerGO:00055819.1COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
4extracellular matrixGO:00310128.4ASPN, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
5extracellular spaceGO:00056158.3COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, COMP
6proteinaceous extracellular matrixGO:00055787.5ASPN, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1
7extracellular regionGO:00055766.6ASPN, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1

Biological processes related to Sed Congenita according to GeneCards Suite gene sharing:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1endochondral bone growthGO:000341610.7DDR2, FGFR3
2cartilage development involved in endochondral bone morphogenesisGO:006035110.6COL1A1, COL2A1
3collagen-activated tyrosine kinase receptor signaling pathwayGO:003806310.5COL1A1, DDR2
4growth plate cartilage developmentGO:000341710.5COMP, MMP13
5positive regulation of neuron migrationGO:200122410.5FLNA, SEMA3A
6chondrocyte proliferationGO:003598810.4DDR2, FGFR3, IHH
7chondrocyte developmentGO:000206310.4COL11A1, RUNX2
8protein heterotrimerizationGO:007020810.4COL1A1, COL1A2
9proteoglycan metabolic processGO:000602910.3COL11A1, COL2A1, IHH
10positive regulation of chondrocyte differentiationGO:003233210.3IHH, RUNX2
11bone mineralizationGO:003028210.3ASPN, FGFR3, MMP13
12chondrocyte differentiationGO:000206210.3COL2A1, FGFR3, RUNX2
13skin morphogenesisGO:004358910.2COL1A1, COL1A2
14blood vessel developmentGO:000156810.1COL1A1, COL1A2, COL3A1
15cellular response to amino acid stimulusGO:007123010.1COL1A1, COL1A2, COL3A1
16cartilage developmentGO:005121610.0COL10A1, COL11A1, COL2A1, MMP13
17osteoblast differentiationGO:00016499.9COL1A1, IHH, RUNX2
18regulation of immune responseGO:00507769.8COL1A1, COL1A2, COL2A1, COL3A1
19platelet activationGO:00301689.7COL1A1, COL1A2, COL3A1, FLNA
20skeletal system morphogenesisGO:00487059.6COL11A1, COL1A1, COL2A1, RUNX2
21collagen fibril organizationGO:00301999.4COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, DDR2
22ossificationGO:00015039.3COL11A1, COL1A1, COL2A1, DDR2, RUNX2, SLC26A2
23wound healingGO:00420609.2COL1A1, COL3A1, SDC1
24endochondral ossificationGO:00019589.2COL10A1, COL1A1, COL2A1, FGFR3, MMP13, RUNX2
25collagen catabolic processGO:00305749.0COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
26extracellular matrix organizationGO:00301989.0COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
27skeletal system developmentGO:00015018.3COL10A1, COL1A1, COL1A2, COL2A1, COL3A1, COMP

Molecular functions related to Sed Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.9ASPN, COMP, DDR2, MMP13
2platelet-derived growth factor bindingGO:00484079.8COL1A1, COL1A2, COL2A1, COL3A1
3protease bindingGO:00020209.7COL1A1, COL1A2, COL3A1, COMP
4SMAD bindingGO:00463329.5COL1A2, COL3A1, FLNA
5extracellular matrix structural constituentGO:00052019.3COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, COMP

Sources for Sed Congenita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet