EDSPD2
MCID: EHL072
MIFTS: 31

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 58 76 30 6
Edspd2 58 76

Characteristics:

OMIM:

58
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:

33
ehlers-danlos syndrome, periodontal type, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 2

UniProtKB/Swiss-Prot : 76 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 immunodeficiency due to a classical component pathway complement deficiency. An important gene associated with Ehlers-Danlos Syndrome, Periodontal Type, 2 is C1S (Complement C1s), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include skin, colon and bone, and related phenotypes are scoliosis and arthralgia

Description from OMIM: 617174

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

Diseases in the Periodontal Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Periodontal Type, 1 Ehlers-Danlos Syndrome, Periodontal Type, 2

Diseases related to Ehlers-Danlos Syndrome, Periodontal Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 periodontal ehlers-danlos syndrome 9.8 C1R C1S
2 immunodeficiency due to a classical component pathway complement deficiency 9.7 C1R C1S
3 ehlers-danlos syndrome, periodontal type, 1 9.7 C1R C1S
4 gingival recession 9.7 C1R C1S
5 systemic lupus erythematosus 9.7 C1R C1S
6 retinitis pigmentosa 43 9.6 C1R C1S
7 lupus erythematosus 9.5 C1R C1S

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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 arthralgia 33 occasional (7.5%) HP:0002829
3 joint hypermobility 33 occasional (7.5%) HP:0001382
4 gingival bleeding 33 occasional (7.5%) HP:0000225
5 inguinal hernia 33 HP:0000023
6 umbilical hernia 33 HP:0001537
7 neoplasm 33 HP:0002664
8 periodontitis 33 HP:0000704
9 bruising susceptibility 33 HP:0000978
10 fragile skin 33 HP:0001030

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis (in some patients)
spinal osteoarthritis (in some patients)

Skin Nails Hair Skin:
easy bruising
pretibial hyperpigmentation
skin fragility
prominent subcutaneous vasculature (in some patients)
elastic skin (in some patients)
more
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)

Abdomen External Features:
inguinal hernia (in 1 patient)
umbilical hernia (in 1 patient)

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

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 30 C1S

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

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

42
Skin, Colon, Bone

Publications for Ehlers-Danlos Syndrome, Periodontal Type, 2

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

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

Variations for Ehlers-Danlos Syndrome, Periodontal Type, 2

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

76
# Symbol AA change Variation ID SNP ID
1 C1S p.Cys294Arg VAR_077120 rs886040975

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1S NM_201442.3(C1S): c.945_947del (p.Asp315_Val316delinsGlu) deletion Pathogenic rs886040974 GRCh37 Chromosome 12, 7173895: 7173897
2 C1S NM_201442.3(C1S): c.945_947del (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_001733.6(C1R): c.1073G> T (p.Cys358Phe) single nucleotide variant Pathogenic rs1057518645 GRCh38 Chromosome 12, 7086423: 7086423
6 C1R NM_001733.6(C1R): c.902G> C (p.Arg301Pro) single nucleotide variant Pathogenic rs760277934 GRCh38 Chromosome 12, 7088853: 7088853
7 C1R NM_001733.6(C1R): c.902G> C (p.Arg301Pro) single nucleotide variant Pathogenic rs760277934 GRCh37 Chromosome 12, 7241449: 7241449
8 C1R NM_001733.6(C1R): c.927C> G (p.Cys309Trp) single nucleotide variant Pathogenic rs769707492 GRCh38 Chromosome 12, 7088721: 7088721
9 C1R NM_001733.6(C1R): c.927C> G (p.Cys309Trp) single nucleotide variant Pathogenic rs769707492 GRCh37 Chromosome 12, 7241317: 7241317
10 C1R NM_001733.7(C1R): c.899T> C (p.Leu300Pro) single nucleotide variant Pathogenic rs1057515579 GRCh38 Chromosome 12, 7088856: 7088856
11 C1R NM_001733.7(C1R): c.899T> C (p.Leu300Pro) single nucleotide variant Pathogenic rs1057515579 GRCh37 Chromosome 12, 7241452: 7241452
12 C1R NM_001733.7(C1R): c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) indel Pathogenic rs1057518646 GRCh38 Chromosome 12, 7088721: 7088731
13 C1R NM_001733.7(C1R): c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) indel Pathogenic rs1057518646 GRCh37 Chromosome 12, 7241317: 7241327
14 C1R NM_001733.7(C1R): c.869A> G (p.Asp290Gly) single nucleotide variant Pathogenic rs1057518643 GRCh38 Chromosome 12, 7088886: 7088886
15 C1R NM_001733.7(C1R): c.869A> G (p.Asp290Gly) single nucleotide variant Pathogenic rs1057518643 GRCh37 Chromosome 12, 7241482: 7241482
16 C1R NM_001733.7(C1R): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic rs1057519026 GRCh38 Chromosome 12, 7088865: 7088865
17 C1R NM_001733.7(C1R): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic rs1057519026 GRCh37 Chromosome 12, 7241461: 7241461
18 C1R NM_001733.7(C1R): c.149_150delTCinsAT (p.Val50Asp) indel Pathogenic rs1057519025 GRCh38 Chromosome 12, 7091533: 7091534
19 C1R NM_001733.7(C1R): c.149_150delTCinsAT (p.Val50Asp) indel Pathogenic rs1057519025 GRCh37 Chromosome 12, 7244129: 7244130
20 C1R NM_001733.7(C1R): c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) indel Pathogenic rs1057519580 GRCh38 Chromosome 12, 7085919: 7085934
21 C1R NM_001733.6(C1R): c.1113C> G (p.Cys371Trp) single nucleotide variant Pathogenic rs1057519579 GRCh38 Chromosome 12, 7086383: 7086383
22 C1R NM_001733.6(C1R): c.1092G> C (p.Trp364Cys) single nucleotide variant Pathogenic rs1057519578 GRCh38 Chromosome 12, 7086404: 7086404
23 C1R NM_001733.7(C1R): c.1012T> C (p.Cys338Arg) single nucleotide variant Pathogenic rs1057519577 GRCh38 Chromosome 12, 7088636: 7088636
24 C1R NM_001733.7(C1R): c.1012T> C (p.Cys338Arg) single nucleotide variant Pathogenic rs1057519577 GRCh37 Chromosome 12, 7241232: 7241232
25 C1R NM_001733.7(C1R): c.905A> G (p.Tyr302Cys) single nucleotide variant Pathogenic rs1057519576 GRCh38 Chromosome 12, 7088850: 7088850
26 C1R NM_001733.7(C1R): c.905A> G (p.Tyr302Cys) single nucleotide variant Pathogenic rs1057519576 GRCh37 Chromosome 12, 7241446: 7241446
27 C1R NM_001733.7(C1R): c.1303T> C (p.Trp435Arg) single nucleotide variant Pathogenic rs1060499554 GRCh38 Chromosome 12, 7082077: 7082077
28 C1R NM_001733.7(C1R): c.1303T> C (p.Trp435Arg) single nucleotide variant Pathogenic rs1060499554 GRCh37 Chromosome 12, 7189381: 7189381
29 C1S NM_001734.3(C1S): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7171693: 7171693
30 C1S NM_001734.3(C1S): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 7064389: 7064389
31 C1S NM_001734.3(C1S): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 7173893: 7173893
32 C1S NM_001734.3(C1S): c.943G> A (p.Asp315Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 7066589: 7066589

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

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 C1R C1S

Biological processes related to Ehlers-Danlos Syndrome, Periodontal Type, 2 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 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 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 Ehlers-Danlos Syndrome, Periodontal Type, 2

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10 dbSNP
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17 EFO
18 ExPASy
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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