PEDS
MCID: PRD037
MIFTS: 31

Periodontal Ehlers-Danlos Syndrome (PEDS)

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

Aliases & Classifications for Periodontal Ehlers-Danlos Syndrome

MalaCards integrated aliases for Periodontal Ehlers-Danlos Syndrome:

Name: Periodontal Ehlers-Danlos Syndrome 53
Ehlers-Danlos Syndrome, Type 8 29 6
Ehlers-Danlos Syndrome, Periodontitis Type 53
Ehlers-Danlos Syndrome, Periodontosis Type 53
Ehlers-Danlos Syndrome, Type Viii 73
Ehlers-Danlos Syndrome Type 8 53
Periodontal Eds 53
Eds Viii 53
Peds 53

Classifications:



External Ids:

UMLS 73 C0268347

Summaries for Periodontal Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 75392Disease definitionEhlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.Clinical descriptionEDS type VIII is the rarest form of EDS and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars). The periodontitis is generalized with early-onset (appearing at puberty) and may lead to loss of teeth before 30 years of age, and alveolar bone deterioration. The joint hyperlaxity and cutaneous hyperelasticity are variable. Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection.EtiologyThe syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential genelocus on chromosome 12p13.Genetic counselingThe syndrome is transmitted in an autosomal dominant manner.Management and treatmentThere is no specific treatment for the disease but symptomatic management of the dental anomalies is essential.Visit the Orphanet disease page for more resources.

MalaCards based summary : Periodontal Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, type 8, is related to ehlers-danlos syndrome, periodontal type, 1 and ehlers-danlos syndrome, periodontal type, 2, and has symptoms including hoarseness An important gene associated with Periodontal Ehlers-Danlos Syndrome is C1R (Complement C1r), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include bone, skin and lung.

Related Diseases for Periodontal Ehlers-Danlos Syndrome

Graphical network of the top 20 diseases related to Periodontal Ehlers-Danlos Syndrome:



Diseases related to Periodontal Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Periodontal Ehlers-Danlos Syndrome

UMLS symptoms related to Periodontal Ehlers-Danlos Syndrome:


hoarseness

Drugs & Therapeutics for Periodontal Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Periodontal Ehlers-Danlos Syndrome

Genetic Tests for Periodontal Ehlers-Danlos Syndrome

Genetic tests related to Periodontal Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 8 29 C1R

Anatomical Context for Periodontal Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Periodontal Ehlers-Danlos Syndrome:

41
Bone, Skin, Lung, Ovary, Prostate, Myeloid

Publications for Periodontal Ehlers-Danlos Syndrome

Articles related to Periodontal Ehlers-Danlos Syndrome:

# Title Authors Year
1
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. ( 30535813 )
2018
2
A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene. ( 30025171 )
2018
3
High risk of peri-implant disease in periodontal Ehlers-Danlos Syndrome. A case series. ( 30252959 )
2018
4
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. ( 27745832 )
2016
5
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. ( 18284404 )
2008

Variations for Periodontal Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Periodontal Ehlers-Danlos Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1S NM_001734.4(C1S): c.945_947delTGT (p.Asp315_Val316delinsGlu) deletion Pathogenic rs886040974 GRCh37 Chromosome 12, 7173895: 7173897
2 C1S NM_001734.4(C1S): c.945_947delTGT (p.Asp315_Val316delinsGlu) deletion Pathogenic rs886040974 GRCh38 Chromosome 12, 7066591: 7066593
3 C1S NM_001734.3(C1S): c.880T> C (p.Cys294Arg) single nucleotide variant Pathogenic rs886040975 GRCh37 Chromosome 12, 7173830: 7173830
4 C1S NM_001734.3(C1S): c.880T> C (p.Cys294Arg) single nucleotide variant Pathogenic rs886040975 GRCh38 Chromosome 12, 7066526: 7066526
5 C1R NM_001733.4(C1R): c.1073G> T (p.Cys358Phe) single nucleotide variant Pathogenic rs1057518645 GRCh38 Chromosome 12, 7086423: 7086423
6 C1R NM_001733.4(C1R): c.902G> C (p.Arg301Pro) single nucleotide variant Pathogenic rs760277934 GRCh38 Chromosome 12, 7088853: 7088853
7 C1R NM_001733.4(C1R): c.902G> C (p.Arg301Pro) single nucleotide variant Pathogenic rs760277934 GRCh37 Chromosome 12, 7241449: 7241449
8 C1R NM_001733.4(C1R): c.927C> G (p.Cys309Trp) single nucleotide variant Pathogenic rs769707492 GRCh38 Chromosome 12, 7088721: 7088721
9 C1R NM_001733.4(C1R): c.927C> G (p.Cys309Trp) single nucleotide variant Pathogenic rs769707492 GRCh37 Chromosome 12, 7241317: 7241317
10 C1R NM_001733.4(C1R): c.899T> C (p.Leu300Pro) single nucleotide variant Pathogenic rs1057515579 GRCh38 Chromosome 12, 7088856: 7088856
11 C1R NM_001733.4(C1R): c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) indel Pathogenic rs1057518646 GRCh38 Chromosome 12, 7088721: 7088731
12 C1R NM_001733.4(C1R): c.869A> G (p.Asp290Gly) single nucleotide variant Pathogenic rs1057518643 GRCh38 Chromosome 12, 7088886: 7088886
13 C1R NM_001733.4(C1R): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic rs1057519026 GRCh38 Chromosome 12, 7088865: 7088865
14 C1R NM_001733.5(C1R): c.149_150delTCinsAT (p.Val50Asp) indel Pathogenic rs1057519025 GRCh38 Chromosome 12, 7091533: 7091534
15 C1R NM_001733.4(C1R): c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) indel Pathogenic rs1057519580 GRCh38 Chromosome 12, 7085919: 7085934
16 C1R NM_001733.4(C1R): c.1113C> G (p.Cys371Trp) single nucleotide variant Pathogenic rs1057519579 GRCh38 Chromosome 12, 7086383: 7086383
17 C1R NM_001733.4(C1R): c.1092G> C (p.Trp364Cys) single nucleotide variant Pathogenic rs1057519578 GRCh38 Chromosome 12, 7086404: 7086404
18 C1R NM_001733.4(C1R): c.1012T> C (p.Cys338Arg) single nucleotide variant Pathogenic rs1057519577 GRCh38 Chromosome 12, 7088636: 7088636
19 C1R NM_001733.4(C1R): c.905A> G (p.Tyr302Cys) single nucleotide variant Pathogenic rs1057519576 GRCh38 Chromosome 12, 7088850: 7088850
20 C1R NM_001733.4(C1R): c.1303T> C (p.Trp435Arg) single nucleotide variant Pathogenic rs1060499554 GRCh38 Chromosome 12, 7082077: 7082077

Expression for Periodontal Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Periodontal Ehlers-Danlos Syndrome.

Pathways for Periodontal Ehlers-Danlos Syndrome

GO Terms for Periodontal Ehlers-Danlos Syndrome

Cellular components related to Periodontal Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 C1R C1S

Biological processes related to Periodontal Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.32 C1R C1S
2 innate immune response GO:0045087 9.26 C1R C1S
3 complement activation, classical pathway GO:0006958 9.16 C1R C1S
4 regulation of complement activation GO:0030449 8.96 C1R C1S
5 complement activation GO:0006956 8.62 C1R C1S

Molecular functions related to Periodontal Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 C1R C1S
2 peptidase activity GO:0008233 9.16 C1R C1S
3 serine-type endopeptidase activity GO:0004252 8.96 C1R C1S
4 serine-type peptidase activity GO:0008236 8.62 C1R C1S

Sources for Periodontal Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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