MCID: SDC002
MIFTS: 53

Sed Congenita malady

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

Aliases & Classifications for Sed Congenita

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Sources:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 10Disease Ontology, 12DISEASES, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 49 11 68 45 22 23 47
Spondyloepiphyseal Dysplasia Congenita 10 68 45 22 23 12 51 24
Sedc 68 45 23 51 67
Spondyloepiphyseal Dysplasia, Congenital Type 45 23
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 10
Spondyloepiphyseal Dysplasia Tarda, X-Linked 65
 
Spondyloepiphyseal Dysplasia Congenital Type 67
Congenital Spondyloepiphyseal Dysplasia 51
Spondyloepiphyseal Dysplasia, Congenita 65
Late Spondyloepiphyseal Dysplasia 10
Spranger-Wiedemann Disease 51
Sed, Congenital Type 23

Characteristics:

Orphanet epidemiological data:

51
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe)

HPO:

61
sed congenita:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 183900
Disease Ontology10 DOID:14789
Orphanet51 94068
ICD10 via Orphanet28 Q77.7
MESH via Orphanet37 C535788
UMLS via Orphanet66 C2745959
UMLS65 C2745959, C3541456

Summaries for Sed Congenita

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NIH Rare Diseases:45 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 short thorax, abnormality of epiphysis morphology and short stature. An important gene associated with Sed Congenita is COL2A1 (Collagen Type II Alpha 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Senescence and Autophagy. Affiliated tissues include bone, lung and spinal cord, and related mouse phenotypes are digestive/alimentary and respiratory system.

UniProtKB/Swiss-Prot:67 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Genetics Home Reference:23 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:49 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

Wikipedia:68 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type32.2COL11A1, COL2A1, COMP, SEMA3A
2spondyloepiphyseal dysplasia with congenital joint dislocations11.5
3spondyloepiphyseal dysplasia tarda11.1
4collagenopathy, types ii and xi11.1
5stickler syndrome, type ii10.7COL11A1, COL2A1
6marshall syndrome10.7COL11A1, COL2A1
7cataract10.6COL10A1, COL2A1, COMP
8leber congenital amaurosis 310.6COL2A1, SLC26A2
9atelosteogenesis ii10.6COL2A1, COMP, SLC26A2
10myopathy with extrapyramidal signs10.6COL2A1, FGFR3, GALNS
11familial atrial fibrillation10.6COMP, FGFR3, SLC26A2
12epiphyseal dysplasia, multiple, with myopia and deafness10.6COL10A1, COL2A1, SEMA3A
13epiphyseal dysplasia, multiple, 110.6COL2A1, COMP, SLC26A2
14respiratory syncytial virus infectious disease10.6COL2A1, COMP, SLC26A2
15brachydactyly, type a1, c10.6ASPN, COL2A1, COMP
16trichuriasis10.6COL11A1, COL2A1
17dystrophies primarily involving the retinal pigment epithelium10.6COL11A1, COL2A1
18congenital trigeminal anesthesia10.5COL1A1, COL1A2
19vitreoretinochoroidopathy dominant10.5COL11A1, COL2A1
20epidermolysis bullosa, pretibial10.5COL2A1, FGFR3, IHH
21col4a1-related disorders10.5COL1A1, COL1A2
22amelogenesis imperfecta, type iia210.5MMP13, SEMA3A
23idiopathic linear interstitial keratitis10.5COL1A1, COL1A2
24slc16a1-related hyperinsulinism10.5COL2A1, COMP, FGFR3, SLC26A2
25skeleto cardiac syndrome with thrombocytopenia10.5COL2A1, COMP, FGFR3, SLC26A2
26eif4g1-related parkinson disease10.5COL1A1, COL1A2
27osteogenesis imperfecta, type iv10.4COL1A1, COL1A2
28idiopathic scoliosis10.4COL1A2, COL2A1, FGFR3
29spondyloepimetaphyseal dysplasia10.4COL2A1, DDR2, MMP13
30weissenbacher-zweymuller syndrome10.4COL11A1, COL2A1
31macrogyria, pseudobulbar palsy and mental retardation10.4COL11A1, COL2A1
32glycoproteinosis10.4COL2A1, COMP, MMP13
33hypochondrogenesis10.4COL2A1, SLC26A2
34brown-vialetto-van laere syndrome10.3COL2A1, GALNS, TRAPPC2B
35dicrocoeliasis10.3COL1A1, COL1A2, SLC26A2
36ehlers-danlos syndrome, cardiac valvular form10.3COL1A1, COL1A2, FGFR3
37chromophobe renal cell carcinoma10.3COMP, LAX1
38autosomal dominant microcephaly10.3COL1A1, COL1A2, COL3A1
39achondroplasia10.3
40pseudoachondroplasia10.3
41caffey disease10.2COL1A1, COL1A2
42ehlers-danlos syndrome, classic type10.2COL1A1, COL1A2, COL3A1
43pulmonary hypertension10.2
44osteoarthritis10.2
45cervicitis10.2
46atlantoaxial subluxation10.2
47gummatous syphilis10.2COL2A1, IHH, RUNX2
48mckusick type metaphyseal dysplasia10.2COL10A1, MMP13, RUNX2
49stickler syndrome10.1ASPN, COL11A1, COL2A1, COMP, SEMA3A
50sezary's disease10.1COL1A1, COL1A2, COL2A1, COL3A1

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



Diseases related to sed congenita

Symptoms for Sed Congenita

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Symptoms by clinical synopsis from OMIM:

183900

Clinical features from OMIM:

183900

Symptoms:

 51 (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 Sed Congenita:

(show all 54)
id Description Frequency HPO Source Accession
1 short thorax hallmark (90%) HP:0010306
2 abnormality of epiphysis morphology hallmark (90%) HP:0005930
3 short stature hallmark (90%) HP:0004322
4 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
5 micromelia hallmark (90%) HP:0002983
6 skeletal dysplasia hallmark (90%) HP:0002652
7 narrow chest hallmark (90%) HP:0000774
8 short neck hallmark (90%) HP:0000470
9 hyperlordosis typical (50%) HP:0003307
10 osteoarthritis typical (50%) HP:0002758
11 talipes typical (50%) HP:0001883
12 broad forehead typical (50%) HP:0000337
13 hypertelorism typical (50%) HP:0000316
14 malar flattening typical (50%) HP:0000272
15 cleft palate typical (50%) HP:0000175
16 kyphosis occasional (7.5%) HP:0002808
17 scoliosis occasional (7.5%) HP:0002650
18 nystagmus occasional (7.5%) HP:0000639
19 myopia occasional (7.5%) HP:0000545
20 retinal detachment occasional (7.5%) HP:0000541
21 cataract occasional (7.5%) HP:0000518
22 glaucoma occasional (7.5%) HP:0000501
23 hearing impairment occasional (7.5%) HP:0000365
24 flat face HP:0012368
25 limitation of knee mobility HP:0010501
26 neonatal short-trunk short stature HP:0008857
27 limited hip movement HP:0008800
28 delayed pubic bone ossification HP:0008788
29 delayed calcaneal ossification HP:0008142
30 hypoplasia of the odontoid process HP:0003311
31 ovoid vertebral bodies HP:0003300
32 flattened epiphysis HP:0003071
33 limited elbow movement HP:0002996
34 lumbar hyperlordosis HP:0002938
35 hip dislocation HP:0002827
36 coxa vara HP:0002812
37 kyphosis HP:0002808
38 spondyloepiphyseal dysplasia HP:0002655
39 scoliosis HP:0002650
40 waddling gait HP:0002515
41 cervical myelopathy HP:0002318
42 respiratory distress HP:0002098
43 restrictive lung disease HP:0002091
44 talipes equinovarus HP:0001762
45 barrel-shaped chest HP:0001552
46 muscular hypotonia HP:0001252
47 platyspondyly HP:0000926
48 pectus carinatum HP:0000768
49 vitreoretinal degeneration HP:0000655
50 myopia HP:0000545
51 retinal detachment HP:0000541
52 short neck HP:0000470
53 malar flattening HP:0000272
54 cleft palate HP:0000175

UMLS symptoms related to Sed Congenita:


arthralgia, respiratory distress, waddling gait

Drugs & Therapeutics for Sed Congenita

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos SyndromeRecruitingNCT02144532

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 Congenita22 COL2A1

Anatomical Context for Sed Congenita

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MalaCards organs/tissues related to Sed Congenita:

33
Bone, Lung, Spinal cord, Breast, Skin, Endothelial

Animal Models for Sed Congenita or affiliated genes

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MGI Mouse Phenotypes related to Sed Congenita:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6COL11A1, COL1A1, COL2A1, COL3A1, FGFR3, IHH
2MP:00053888.4COL11A1, COL1A1, COL2A1, COL3A1, FGFR3, IHH
3MP:00053698.4COL1A1, COL1A2, COL3A1, COMP, DDR2, IHH
4MP:00053828.1COL10A1, COL11A1, COL1A1, COL2A1, DDR2, FGFR3
5MP:00053857.5COL1A1, COL1A2, COL2A1, COL3A1, DDR2, IHH
6MP:00053717.1ASPN, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1
7MP:00053846.7COL10A1, COL1A1, COL1A2, COL3A1, DDR2, FGFR3
8MP:00107686.6COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
9MP:00053906.5COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COMP
10MP:00053876.5COL10A1, COL11A1, COL1A1, COL2A1, COL3A1, COMP
11MP:00053786.4COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1

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:

67
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 Sed Congenita:

5
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)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 variantLikely pathogenic, Pathogenicrs121912886GRCh37Chr 12, 48367873: 48367873
7COL2A1NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala)single nucleotide variantPathogenicrs794727339GRCh37Chr 12, 48380868: 48380868
8COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
9COL2A1NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp)single nucleotide variantLikely pathogenicrs794727684GRCh37Chr 12, 48370937: 48370937
10COL2A1NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg)single nucleotide variantPathogenicrs864621973GRCh37Chr 12, 48370911: 48370911

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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.8COL1A1, COL1A2
29.6COL10A1, COL1A1, COL3A1
39.5COL1A1, COL1A2, COL3A1
49.5COL1A1, COL1A2, COL3A1
59.5COL1A1, COL1A2, COL3A1
69.5COL1A1, COL1A2, COL3A1
79.5COL1A1, COL1A2, COL3A1
89.3COL2A1, COMP, DDR2, SDC1
99.3COL2A1, RUNX2, SDC1
109.1COL1A1, COL1A2, COL2A1, COMP, FGFR3
118.9COL1A1, COL1A2, COL2A1, COL3A1, MMP13
12
Show member pathways
8.8COL1A1, COL1A2, COL2A1, COMP, SDC1
13
Show member pathways
8.8COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, COMP
148.8COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
158.6COL1A1, COL1A2, IHH, MMP13, RUNX2
168.4COL10A1, COL2A1, DDR2, FGFR3, IHH, MMP13
17
Show member pathways
8.4COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
18
Show member pathways
8.3COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
19
Show member pathways
7.8COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
20
Show member pathways
7.7COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
21
Show member pathways
7.1ASPN, 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:00055849.8COL1A1, COL1A2

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:000602910.6COL11A1, COL2A1
2cartilage condensationGO:000150210.6COL11A1, COL2A1
3chondrocyte proliferationGO:003598810.6DDR2, FGFR3
4collagen fibril organizationGO:003019910.2COL11A1, COL1A1, COL2A1
5chondrocyte developmentGO:000206310.1COL11A1, RUNX2
6response to mechanical stimulusGO:00096129.9COL1A1, COL3A1, MMP13
7skeletal system morphogenesisGO:00487059.9COL1A1, COL2A1, RUNX2
8skin morphogenesisGO:00435899.8COL1A1, COL1A2
9wound healingGO:00420609.7COL1A1, COL3A1, SDC1
10cartilage developmentGO:00512169.6COL11A1, COL2A1, IHH, MMP13
11cellular response to amino acid stimulusGO:00712309.6COL1A1, COL1A2, COL3A1
12axon guidanceGO:00074119.5COL2A1, COL3A1, FGFR3, SEMA3A
13ossificationGO:00015039.4COL1A1, COL2A1, DDR2, RUNX2, SLC26A2
14endochondral ossificationGO:00019589.4COL1A1, COL2A1, FGFR3, MMP13, RUNX2
15sensory perception of soundGO:00076059.3COL11A1, COL1A1, COL2A1
16extracellular matrix organizationGO:00301988.8COL11A1, COL1A1, COL2A1, COL3A1, SDC1
17collagen catabolic processGO:00305748.5COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1
18extracellular matrix disassemblyGO:00226178.3COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1

Sources for Sed Congenita

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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