EDSPD1
MCID: EHL071
MIFTS: 41

Ehlers-Danlos Syndrome, Periodontal Type, 1 (EDSPD1)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Periodontal Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Periodontal Type, 1:

Name: Ehlers-Danlos Syndrome, Periodontal Type, 1 58 76
Ehlers-Danlos Syndrome, Type Viii 58 76 13 74
Ehlers-Danlos Syndrome, Periodontitis Type 58 60 76
Eds Viii 58 60 76
Ehlers-Danlos Syndrome, Periodontosis Type 58 76
Ehlers-Danlos Syndrome, Type 8 30 6
Edspd1 58 76
Eds8 58 76
Ehlers-Danlos Syndrome, Type Viii; Eds8 58
Ehlers-Danlos Syndrome Type 8 60

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome, periodontitis type
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ehlers-danlos syndrome, periodontal type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 1

OMIM : 58 Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by Kapferer-Seebacher et al., 2016). (130080)

MalaCards based summary : Ehlers-Danlos Syndrome, Periodontal Type, 1, also known as ehlers-danlos syndrome, type viii, is related to periodontal ehlers-danlos syndrome and ehlers-danlos syndrome, periodontal type, 2, and has symptoms including hoarseness An important gene associated with Ehlers-Danlos Syndrome, Periodontal Type, 1 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 skin and bone, and related phenotypes are short stature and periodontitis

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, periodontal type, 1: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 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. EDSPD1 inheritance is autosomal dominant.

Related Diseases for Ehlers-Danlos Syndrome, Periodontal Type, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 periodontal ehlers-danlos syndrome 31.9 C1S C1R
2 ehlers-danlos syndrome, periodontal type, 2 12.8
3 ehlers-danlos syndrome 10.8
4 periodontitis 10.5
5 osteoarthritis 10.2
6 leukodystrophy 10.2
7 root resorption 10.2
8 periodontal disease 10.2
9 immunodeficiency due to a classical component pathway complement deficiency 9.7 C1S C1R
10 gingival recession 9.7 C1S C1R
11 retinitis pigmentosa 43 9.7 C1S C1R
12 lupus erythematosus 9.6 C1S C1R
13 systemic lupus erythematosus 9.5 C1S C1R

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Periodontal Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Periodontal Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Periodontal Type, 1

Human phenotypes related to Ehlers-Danlos Syndrome, Periodontal Type, 1:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 periodontitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000704
3 hypermelanotic macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001034
4 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
5 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
6 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
7 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
8 hyperextensible skin 60 33 frequent (33%) Frequent (79-30%) HP:0000974
9 agenesis of permanent teeth 60 33 frequent (33%) Frequent (79-30%) HP:0006349
10 atrophy of alveolar ridges 60 33 frequent (33%) Frequent (79-30%) HP:0006308
11 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
12 premature loss of primary teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0006323
13 scoliosis 33 occasional (7.5%) HP:0002650
14 arachnodactyly 33 occasional (7.5%) HP:0001166
15 recurrent infections 33 occasional (7.5%) HP:0002719
16 tall stature 33 occasional (7.5%) HP:0000098
17 generalized joint laxity 33 occasional (7.5%) HP:0002761
18 inguinal hernia 33 HP:0000023
19 thin skin 33 HP:0000963
20 autoimmunity 33 HP:0002960
21 joint laxity 33 HP:0001388
22 bruising susceptibility 33 HP:0000978
23 gingival bleeding 33 HP:0000225
24 hoarse voice 33 HP:0001609
25 blue sclerae 33 HP:0000592
26 poor wound healing 33 HP:0001058
27 palmoplantar cutis laxa 33 HP:0007517
28 gingival recession 33 HP:0030816
29 premature loss of teeth 33 HP:0006480
30 soft skin 33 HP:0000977
31 intestinal perforation 33 HP:0031368
32 alveolar bone loss around teeth 33 HP:0410027

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
gingival bleeding
gingival recession
early-onset periodontitis
minimally attached or unattached gingivae
gingival fragility
more
Skin Nails Hair Skin:
poor wound healing
atrophic scars
soft skin
prominent subcutaneous vasculature (rare)
easy bruising
more
Growth Height:
tall stature (in some patients)
arm span wider than height (in some patients)

Head And Neck Face:
acrogeric facial appearance (rare)

Cardiovascular Vascular:
cerebral artery aneurysm/rupture (in some patients)
aortic aneurysm/dissection (rare)
prominent subcutaneous vasculature (rare)

Skeletal Hands:
hypermobility of finger joints, mild
arachnodactyly (in some patients)

Immunology:
recurrent infections (in some patients)
autoimmune disorders (in 1 family)

Voice:
hoarse voice

Skeletal Spine:
scoliosis (in some patients)

Skeletal Limbs:
arm span wider than height (in some patients)
generalized joint laxity, mild (in some patients)
hypermobility of elbow joints, mild
hypermobility of wrists, mild (in some patients)

Head And Neck Teeth:
alveolar bone loss around teeth
premature and progressive loss of teeth
propensity for calculus formation (in some patients) periodontal disease

Abdomen Gastrointestinal:
intestinal perforation (in 1 patient)
inguinal hernia (in 1 patient)

Skin Nails Hair Skin Electron Microscopy:
increased numbers of fibroblasts
decreased collagen content
abnormal variation in collagen fibril diameter
abnormally shaped collagen fibrils
abnormally enlarged endoplasmic reticulum cisterns

Clinical features from OMIM:

130080

UMLS symptoms related to Ehlers-Danlos Syndrome, Periodontal Type, 1:


hoarseness

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Periodontal Type, 1

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Periodontal Type, 1

Genetic Tests for Ehlers-Danlos Syndrome, Periodontal Type, 1

Genetic tests related to Ehlers-Danlos Syndrome, Periodontal Type, 1:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 8 30

Anatomical Context for Ehlers-Danlos Syndrome, Periodontal Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Periodontal Type, 1:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Periodontal Type, 1

Articles related to Ehlers-Danlos Syndrome, Periodontal Type, 1:

(show all 14)
# Title Authors Year
1
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. ( 27663155 )
2016
2
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). ( 25485215 )
2014
3
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients. ( 24198978 )
2013
4
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. ( 22739343 )
2013
5
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. ( 22419391 )
2012
6
What syndrome is this? Ehlers-Danlos syndrome type VIII. ( 17461822 )
2007
7
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. ( 16843123 )
2006
8
Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. ( 10721840 )
2000
9
Ehlers-Danlos syndrome type VIII and leukodystrophy. ( 8958339 )
1996
10
Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. ( 7606321 )
1995
11
Ehlers-Danlos syndrome (type VIII). ( 8820341 )
1995
12
Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth. ( 8494762 )
1993
13
Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII. ( 1789281 )
1991
14
Ehlers-Danlos syndrome type VIII. ( 7263975 )
1981

Variations for Ehlers-Danlos Syndrome, Periodontal Type, 1

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Periodontal Type, 1:

76
# Symbol AA change Variation ID SNP ID
1 C1R p.Val50Asp VAR_077106
2 C1R p.Tyr302Cys VAR_077111
3 C1R p.Cys309Trp VAR_077113
4 C1R p.Cys338Arg VAR_077114
5 C1R p.Cys358Phe VAR_077115
6 C1R p.Cys371Trp VAR_077117

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Periodontal Type, 1:

6 (show all 28)
# 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_001733.7(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_001733.4(C1R): c.1113C> G (p.Cys371Trp) single nucleotide variant Pathogenic rs1057519579 GRCh38 Chromosome 12, 7086383: 7086383
22 C1R NM_001733.4(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

Expression for Ehlers-Danlos Syndrome, Periodontal Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Periodontal Type, 1.

Pathways for Ehlers-Danlos Syndrome, Periodontal Type, 1

GO Terms for Ehlers-Danlos Syndrome, Periodontal Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Periodontal Type, 1 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, 1 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, 1 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, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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