MCID: SDC002
MIFTS: 45

Sed Congenita 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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 51 70 47 24 25 12 49
Spondyloepiphyseal Dysplasia Congenita 51 11 70 47 24 25 53 26 13
Sedc 47 25 53 69
Spondyloepiphyseal Dysplasia, Congenital Type 47 25
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 11
Spondyloepiphyseal Dysplasia Tarda, X-Linked 67
 
Spondyloepiphyseal Dysplasia Congenital Type 69
Congenital Spondyloepiphyseal Dysplasia 53
Spondyloepiphyseal Dysplasia, Congenita 67
Late Spondyloepiphyseal Dysplasia 11
Spranger-Wiedemann Disease 53
Sed, Congenital Type 25

Characteristics:

Orphanet epidemiological data:

53
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe)

HPO:

63
sed congenita:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 183900
Disease Ontology11 DOID:14789
Orphanet53 ORPHA94068
UMLS via Orphanet68 C2745959
ICD10 via Orphanet30 Q77.7
MESH via Orphanet39 C535788

Summaries for Sed Congenita

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NIH Rare Diseases:47 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 neck, narrow chest and skeletal dysplasia. An important gene associated with Sed Congenita is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are Neural Crest Differentiation and Endochondral Ossification. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

UniProtKB/Swiss-Prot:69 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:51 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

Wikipedia:70 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 all 42)
idRelated DiseaseScoreTop Affiliating Genes
1smed strudwick type31.2COL2A1, COMP
2spondyloepiphyseal dysplasia with congenital joint dislocations11.0
3spondyloepiphyseal dysplasia tarda11.0
4achondroplasia10.1
5pseudoachondroplasia10.1
6leber congenital amaurosis 310.1COL2A1, SLC26A2
7stickler syndrome10.1COL2A1, SLC26A2
8pulmonary hypertension10.1
9osteoarthritis10.1
10cervicitis10.1
11atlantoaxial subluxation10.1
12syphilitic myelopathy10.0COL2A1, FGFR3
13malignant pleural solitary fibrous tumor10.0COL2A1, GALNS
14slc40a1-related hereditary hemochromatosis10.0COL2A1, FGFR3
15toenail dystrophy, isolated9.9COL2A1, FGFR3
16diastrophic dysplasia9.9
17retinoschisis9.9
18scoliosis9.9
19multiple epiphyseal dysplasia9.9
20retinitis9.9
21retinal detachment9.9
22dwarfism9.9
23skeletal dysplasias9.9
24vitreoretinal degeneration9.9
25skeletal dysplasia9.9
26hemolytic anemia due to glutathione synthetase deficiency9.8COL2A1, COMP
27acromesomelic dysplasia9.8COL2A1, COMP
28crouzon syndrome with acanthosis nigricans9.7COMP, FGFR3
29myopathy with extrapyramidal signs9.6COL2A1, GALNS, SLC26A2
30osteochondrosis9.6COL2A1, COMP
31sclerosteosis9.6COL2A1, FGFR3
32fibrochondrogenesis9.6COMP, SLC26A2
33xanthomatosis9.5COL2A1, COMP
34osteopathia striata with pigmentary dermopathy including white forelock9.5COL2A1, COMP, FGFR3
35immunodeficiency 309.4COL2A1, COMP, SLC26A2
36atelosteogenesis ii9.4COL2A1, COMP, SLC26A2
37pars planitis9.4COL2A1, COMP, SLC26A2
38atrioventricular septal defect9.4COMP, FGFR3, SLC26A2
39achondrogenesis, type ii or hypochondrogenesis9.3COL2A1, COMP, GALNS
40ischemic bone disease9.0COL2A1, COMP, FGFR3, SLC26A2
41vulvovaginal candidiasis9.0COL2A1, COMP, FGFR3, SLC26A2
42neuropathy, distal hereditary motor, type iia8.5COL2A1, COMP, FGFR3, GALNS, SLC26A2

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

Human phenotypes related to Sed Congenita:

 63 53 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
2 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
3 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
4 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
5 abnormal form of the vertebral bodies63 hallmark (90%) HP:0003312
6 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
7 abnormality of epiphysis morphology63 53 hallmark (90%) Very frequent (99-80%) HP:0005930
8 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
9 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
10 malar flattening63 typical (50%) HP:0000272
11 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
12 broad forehead63 53 typical (50%) Frequent (79-30%) HP:0000337
13 talipes63 typical (50%) HP:0001883
14 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
15 hyperlordosis63 53 typical (50%) Frequent (79-30%) HP:0003307
16 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
17 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
18 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
19 retinal detachment63 53 occasional (7.5%) Occasional (29-5%) HP:0000541
20 myopia63 53 occasional (7.5%) Occasional (29-5%) HP:0000545
21 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
22 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
23 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
24 vitreoretinal degeneration63 HP:0000655
25 pectus carinatum63 HP:0000768
26 platyspondyly63 53 Very frequent (99-80%) HP:0000926
27 muscular hypotonia63 HP:0001252
28 barrel-shaped chest63 HP:0001552
29 talipes equinovarus63 53 Frequent (79-30%) HP:0001762
30 restrictive ventilatory defect63 HP:0002091
31 respiratory distress63 HP:0002098
32 cervical myelopathy63 HP:0002318
33 waddling gait63 HP:0002515
34 spondyloepiphyseal dysplasia63 HP:0002655
35 coxa vara63 53 Frequent (79-30%) HP:0002812
36 hip dislocation63 HP:0002827
37 lumbar hyperlordosis63 HP:0002938
38 limited elbow movement63 HP:0002996
39 flattened epiphysis63 HP:0003071
40 ovoid vertebral bodies63 HP:0003300
41 hypoplasia of the odontoid process63 HP:0003311
42 delayed calcaneal ossification63 HP:0008142
43 delayed pubic bone ossification63 HP:0008788
44 limited hip movement63 HP:0008800
45 neonatal short-trunk short stature63 HP:0008857
46 limitation of knee mobility63 HP:0010501
47 flat face63 53 Frequent (79-30%) HP:0012368
48 limitation of joint mobility53 Frequent (79-30%)

UMLS symptoms related to Sed Congenita:


waddling gait, respiratory distress, arthralgia

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
3Patient Education Program and Ehlers-Danlos SyndromeCompletedNCT02817490
4Wearing 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 Congenita26 24 COL2A1

Anatomical Context for Sed Congenita

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MalaCards organs/tissues related to Sed Congenita:

35
Bone

Animal Models for Sed Congenita or affiliated genes

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MGI Mouse Phenotypes related to Sed Congenita:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9COL2A1, COMP, FGFR3, SLC26A2
2MP:00053907.5COL2A1, COMP, FGFR3, GALNS, SLC26A2

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:

69
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, EX48duplicationPathogenicChr na, -1: -1
3COL2A1NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser)SNVLikely pathogenic, 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)SNVLikely pathogenic, 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:

idSuper pathwaysScoreTop Affiliating Genes
19.5COL2A1, FGFR3
29.5COL2A1, FGFR3
39.2COL2A1, COMP
4
Show member pathways
9.2COL2A1, COMP
58.7COL2A1, COMP, FGFR3

GO Terms for genes affiliated with Sed Congenita

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

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.7COL2A1, FGFR3
2ossificationGO:00015039.6COL2A1, SLC26A2
3endochondral ossificationGO:00019589.5COL2A1, FGFR3
4skeletal system developmentGO:00015018.7COL2A1, COMP, FGFR3

Sources for Sed Congenita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet