MCID: SDC002
MIFTS: 44

Sed Congenita malady

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

Aliases & Classifications for Sed Congenita

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 50 69 46 23 24 12 48
Spondyloepiphyseal Dysplasia Congenita 50 11 69 46 23 24 13 52 25
Sedc 46 24 52 68
Spondyloepiphyseal Dysplasia, Congenital Type 46 24
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 11
Spondyloepiphyseal Dysplasia Tarda, X-Linked 66
 
Spondyloepiphyseal Dysplasia Congenital Type 68
Congenital Spondyloepiphyseal Dysplasia 52
Spondyloepiphyseal Dysplasia, Congenita 66
Late Spondyloepiphyseal Dysplasia 11
Spranger-Wiedemann Disease 52
Sed, Congenital Type 24

Characteristics:

Orphanet epidemiological data:

52
spondyloepiphyseal dysplasia congenita:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe)

HPO:

62
sed congenita:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 183900
Disease Ontology11 DOID:14789
Orphanet52 ORPHA94068
ICD10 via Orphanet29 Q77.7
MESH via Orphanet38 C535788
UMLS via Orphanet67 C2745959

Summaries for Sed Congenita

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NIH Rare Diseases:46 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.

Genetics Home Reference:24 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:50 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

UniProtKB/Swiss-Prot:68 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Wikipedia:69 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 type31.4COL2A1, COMP
2spondyloepiphyseal dysplasia with congenital joint dislocations11.5
3spondyloepiphyseal dysplasia tarda11.1
4achondroplasia10.3
5pseudoachondroplasia10.3
6pulmonary hypertension10.2
7osteoarthritis10.2
8cervicitis10.2
9atlantoaxial subluxation10.2
10leber congenital amaurosis 310.2COL2A1, SLC26A2
11stickler syndrome10.1COL2A1, SLC26A2
12syphilitic myelopathy10.0COL2A1, FGFR3
13diastrophic dysplasia10.0
14retinoschisis10.0
15scoliosis10.0
16multiple epiphyseal dysplasia10.0
17retinitis10.0
18retinal detachment10.0
19dwarfism10.0
20skeletal dysplasias10.0
21vitreoretinal degeneration10.0
22skeletal dysplasia10.0
23malignant pleural solitary fibrous tumor10.0COL2A1, GALNS
24slc40a1-related hereditary hemochromatosis10.0COL2A1, FGFR3
25toenail dystrophy, isolated9.9COL2A1, FGFR3
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
32fibrochondrogenesis9.5COMP, SLC26A2
33xanthomatosis9.5COL2A1, COMP
34osteopathia striata with pigmentary dermopathy including white forelock9.4COL2A1, COMP, FGFR3
35immunodeficiency 309.4COL2A1, COMP, SLC26A2
36atelosteogenesis ii9.4COL2A1, COMP, SLC26A2
37pars planitis9.4COL2A1, COMP, SLC26A2
38atrioventricular septal defect9.3COMP, FGFR3, SLC26A2
39achondrogenesis, type ii or hypochondrogenesis9.3COL2A1, COMP, GALNS
40ischemic bone disease8.9COL2A1, COMP, FGFR3, SLC26A2
41vulvovaginal candidiasis8.9COL2A1, COMP, FGFR3, SLC26A2
42neuropathy, distal hereditary motor, type iia8.3COL2A1, 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

Symptoms:

 52 (show all 25)
  • cleft palate
  • short neck
  • glaucoma
  • myopia
  • nystagmus
  • narrow chest
  • limitation of joint mobility
  • scoliosis
  • kyphosis
  • coxa vara
  • micromelia
  • hyperlordosis
  • short stature
  • abnormality of epiphysis morphology
  • short thorax
  • hypertelorism
  • broad forehead
  • hearing impairment
  • cataract
  • retinal detachment
  • platyspondyly
  • talipes equinovarus
  • skeletal dysplasia
  • osteoarthritis
  • flat face

HPO human phenotypes related to Sed Congenita:

(show all 54)
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 epiphysis morphology 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 talipes typical (50%) HP:0001883
14 osteoarthritis typical (50%) HP:0002758
15 hyperlordosis typical (50%) HP:0003307
16 hearing impairment occasional (7.5%) HP:0000365
17 glaucoma occasional (7.5%) HP:0000501
18 cataract occasional (7.5%) HP:0000518
19 retinal detachment occasional (7.5%) HP:0000541
20 myopia occasional (7.5%) HP:0000545
21 nystagmus occasional (7.5%) HP:0000639
22 scoliosis occasional (7.5%) HP:0002650
23 kyphosis occasional (7.5%) HP:0002808
24 cleft palate HP:0000175
25 malar flattening HP:0000272
26 short neck HP:0000470
27 retinal detachment HP:0000541
28 myopia HP:0000545
29 vitreoretinal degeneration HP:0000655
30 pectus carinatum HP:0000768
31 platyspondyly HP:0000926
32 muscular hypotonia HP:0001252
33 barrel-shaped chest HP:0001552
34 talipes equinovarus HP:0001762
35 restrictive ventilatory defect HP:0002091
36 respiratory distress HP:0002098
37 cervical myelopathy HP:0002318
38 waddling gait HP:0002515
39 scoliosis HP:0002650
40 spondyloepiphyseal dysplasia HP:0002655
41 kyphosis HP:0002808
42 coxa vara HP:0002812
43 hip dislocation HP:0002827
44 lumbar hyperlordosis HP:0002938
45 limited elbow movement HP:0002996
46 flattened epiphysis HP:0003071
47 ovoid vertebral bodies HP:0003300
48 hypoplasia of the odontoid process HP:0003311
49 delayed calcaneal ossification HP:0008142
50 delayed pubic bone ossification HP:0008788
51 limited hip movement HP:0008800
52 neonatal short-trunk short stature HP:0008857
53 limitation of knee mobility HP:0010501
54 flat face HP:0012368

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 Congenita25 23 COL2A1

Anatomical Context for Sed Congenita

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MalaCards organs/tissues related to Sed Congenita:

34
Bone

Animal Models for Sed Congenita or affiliated genes

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MGI Mouse Phenotypes related to Sed Congenita:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.9COL2A1, 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:

68
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
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:

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:00015039.5COL2A1, SLC26A2
3endochondral ossificationGO:00019589.5COL2A1, FGFR3
4skeletal system developmentGO:00015018.4COL2A1, COMP, FGFR3

Sources for Sed Congenita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet