EDSPD2
MCID: EHL072
MIFTS: 33

Ehlers-Danlos Syndrome, Periodontal Type, 2 (EDSPD2)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Periodontal Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Periodontal Type, 2:

Name: Ehlers-Danlos Syndrome, Periodontal Type, 2 57 72 29 6
Edspd2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 16 patients in 2 families (last curated october 2016)
seven of the 16 affected individuals were reported to have had some form of cancer


HPO:

31
ehlers-danlos syndrome, periodontal type, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 2

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, periodontal type, 2: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance.

MalaCards based summary : Ehlers-Danlos Syndrome, Periodontal Type, 2, also known as edspd2, is related to periodontal ehlers-danlos syndrome and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Periodontal Type, 2 is C1S (Complement C1s), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include colon, lung and breast, and related phenotypes are scoliosis and arthralgia

More information from OMIM: 617174 PS130000

Related Diseases for Ehlers-Danlos Syndrome, Periodontal Type, 2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Periodontal Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Periodontal Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Periodontal Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Periodontal Type, 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 arthralgia 31 occasional (7.5%) HP:0002829
3 joint hypermobility 31 occasional (7.5%) HP:0001382
4 gingival bleeding 31 occasional (7.5%) HP:0000225
5 inguinal hernia 31 HP:0000023
6 umbilical hernia 31 HP:0001537
7 neoplasm 31 HP:0002664
8 periodontitis 31 HP:0000704
9 bruising susceptibility 31 HP:0000978
10 fragile skin 31 HP:0001030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
easy bruising
skin fragility
pretibial hyperpigmentation
prominent subcutaneous vasculature (in some patients)
elastic skin (in some patients)
more
Abdomen External Features:
inguinal hernia (in 1 patient)
umbilical hernia (in 1 patient)

Head And Neck Mouth:
aggressive periodontitis
gingival recessions
gum fragility
bleeding gums (in some patients)

Cardiovascular Vascular:
prominent subcutaneous vasculature (in some patients)

Skeletal Limbs:
joint hypermobility (elbows, knees, in some patients)
joint pain (in some patients)

Skeletal Spine:
scoliosis (in some patients)
spinal osteoarthritis (in some patients)

Skeletal Hands:
joint hypermobility (in some patients)

Head And Neck Teeth:
tooth loss, progressive, beginning in second and third decades of life

Abdomen Gastrointestinal:
irritable bowel symptoms (in some patients)

Neoplasia:
cancer (e.g., lung, breast, genitourinary, colon, etc. in some patients)

Clinical features from OMIM®:

617174 (Updated 20-May-2021)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Periodontal Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Periodontal Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Periodontal Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Periodontal Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Periodontal Type, 2 29 C1S

Anatomical Context for Ehlers-Danlos Syndrome, Periodontal Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Periodontal Type, 2:

40
Colon, Lung, Breast

Publications for Ehlers-Danlos Syndrome, Periodontal Type, 2

Articles related to Ehlers-Danlos Syndrome, Periodontal Type, 2:

# Title Authors PMID Year
1
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 57 6
27745832 2016

Variations for Ehlers-Danlos Syndrome, Periodontal Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Periodontal Type, 2:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1S NM_001734.5(C1S):c.880T>C (p.Cys294Arg) SNV Pathogenic/Likely pathogenic 267349 rs886040975 GRCh37: 12:7173830-7173830
GRCh38: 12:7066526-7066526
2 C1S NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) Deletion Pathogenic/Likely pathogenic 267348 rs886040974 GRCh37: 12:7173895-7173897
GRCh38: 12:7066591-7066593
3 C1R NM_001733.7(C1R):c.890G>A (p.Gly297Asp) SNV Likely pathogenic 372129 rs1057519026 GRCh37: 12:7241461-7241461
GRCh38: 12:7088865-7088865
4 C1R NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) SNV Likely pathogenic 375577 rs1057519576 GRCh37: 12:7241446-7241446
GRCh38: 12:7088850-7088850
5 C1R NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) SNV Likely pathogenic 375578 rs1057519577 GRCh37: 12:7241232-7241232
GRCh38: 12:7088636-7088636
6 C1R NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) SNV Likely pathogenic 375579 rs1057519578 GRCh37:
GRCh38: 12:7086404-7086404
7 C1R NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) SNV Likely pathogenic 375580 rs1057519579 GRCh37:
GRCh38: 12:7086383-7086383
8 C1R NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) Indel Likely pathogenic 375581 rs1057519580 GRCh37:
GRCh38: 12:7085919-7085934
9 C1R NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) SNV Likely pathogenic 375582 rs1060499554 GRCh37: 12:7189381-7189381
GRCh38: 12:7082077-7082077
10 C1R NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) Indel Likely pathogenic 372130 rs1057519025 GRCh37: 12:7244129-7244130
GRCh38: 12:7091533-7091534
11 C1R NM_001733.7(C1R):c.869A>G (p.Asp290Gly) SNV Likely pathogenic 267356 rs1057518643 GRCh37: 12:7241482-7241482
GRCh38: 12:7088886-7088886
12 C1R NM_001733.7(C1R):c.899T>C (p.Leu300Pro) SNV Likely pathogenic 267354 rs1057515579 GRCh37: 12:7241452-7241452
GRCh38: 12:7088856-7088856
13 C1R NM_001733.7(C1R):c.902G>C (p.Arg301Pro) SNV Likely pathogenic 267352 rs760277934 GRCh37: 12:7241449-7241449
GRCh38: 12:7088853-7088853
14 C1R NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) Indel Likely pathogenic 267355 rs1057518646 GRCh37: 12:7241317-7241327
GRCh38: 12:7088721-7088731
15 C1R NM_001733.7(C1R):c.927C>G (p.Cys309Trp) SNV Likely pathogenic 267353 rs769707492 GRCh37: 12:7241317-7241317
GRCh38: 12:7088721-7088721
16 C1R NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) SNV Likely pathogenic 267351 rs1057518645 GRCh37:
GRCh38: 12:7086423-7086423
17 C1S NM_001734.5(C1S):c.514G>A (p.Gly172Arg) SNV Uncertain significance 625898 rs375308014 GRCh37: 12:7171693-7171693
GRCh38: 12:7064389-7064389
18 C1S NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) SNV Uncertain significance 976135 GRCh37: 12:7175019-7175019
GRCh38: 12:7067715-7067715
19 C1S NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) SNV Uncertain significance 992547 GRCh37: 12:7175762-7175762
GRCh38: 12:7068458-7068458
20 C1S NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) SNV Uncertain significance 976135 GRCh37: 12:7175019-7175019
GRCh38: 12:7067715-7067715
21 C1S NM_001734.5(C1S):c.943G>A (p.Asp315Asn) SNV Uncertain significance 625899 rs117907409 GRCh37: 12:7173893-7173893
GRCh38: 12:7066589-7066589

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Periodontal Type, 2:

72
# Symbol AA change Variation ID SNP ID
1 C1S p.Cys294Arg VAR_077120 rs886040975

Expression for Ehlers-Danlos Syndrome, Periodontal Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Periodontal Type, 2.

Pathways for Ehlers-Danlos Syndrome, Periodontal Type, 2

Pathways related to Ehlers-Danlos Syndrome, Periodontal Type, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 C1S C1R
2
Show member pathways
11.48 C1S C1R
3 11.42 C1S C1R
4 11.14 C1S C1R
5
Show member pathways
10.86 C1S C1R
6 10.5 C1S C1R

GO Terms for Ehlers-Danlos Syndrome, Periodontal Type, 2

Cellular components related to Ehlers-Danlos Syndrome, Periodontal Type, 2 according to GeneCards Suite gene sharing:

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

Biological processes related to Ehlers-Danlos Syndrome, Periodontal Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.37 C1S C1R
2 proteolysis GO:0006508 9.32 C1S C1R
3 innate immune response GO:0045087 9.26 C1S C1R
4 complement activation, classical pathway GO:0006958 9.16 C1S C1R
5 regulation of complement activation GO:0030449 8.96 C1S C1R
6 complement activation GO:0006956 8.62 C1S C1R

Molecular functions related to Ehlers-Danlos Syndrome, Periodontal Type, 2 according to GeneCards Suite gene sharing:

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

Sources for Ehlers-Danlos Syndrome, Periodontal Type, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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