EDSPD1
MCID: EHL071
MIFTS: 39

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 56 73
Ehlers-Danlos Syndrome, Type Viii 56 73 13 71
Ehlers-Danlos Syndrome, Periodontitis Type 56 73
Ehlers-Danlos Syndrome, Periodontosis Type 56 73
Ehlers-Danlos Syndrome, Type 8 29 6
Eds Viii 56 73
Edspd1 56 73
Eds8 56 73
Ehlers-Danlos Syndrome, Type Viii; Eds8 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ehlers-danlos syndrome, periodontal type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 1

OMIM : 56 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 ehlers-danlos syndrome, periodontal type, 2 and periodontal ehlers-danlos syndrome, 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 Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include skin and bone, and related phenotypes are scoliosis and arachnodactyly

UniProtKB/Swiss-Prot : 73 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

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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 arachnodactyly 31 occasional (7.5%) HP:0001166
3 tall stature 31 occasional (7.5%) HP:0000098
4 recurrent infections 31 occasional (7.5%) HP:0002719
5 generalized joint laxity 31 occasional (7.5%) HP:0002761
6 inguinal hernia 31 HP:0000023
7 gingival bleeding 31 HP:0000225
8 autoimmunity 31 HP:0002960
9 joint laxity 31 HP:0001388
10 periodontitis 31 HP:0000704
11 hoarse voice 31 HP:0001609
12 bruising susceptibility 31 HP:0000978
13 blue sclerae 31 HP:0000592
14 hyperextensible skin 31 HP:0000974
15 premature loss of teeth 31 HP:0006480
16 thin skin 31 HP:0000963
17 soft skin 31 HP:0000977
18 atrophic scars 31 HP:0001075
19 poor wound healing 31 HP:0001058
20 palmoplantar cutis laxa 31 HP:0007517
21 gingival recession 31 HP:0030816
22 intestinal perforation 31 HP:0031368
23 alveolar bone loss around teeth 31 HP:0410027

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
gingival bleeding
gingival recession
early-onset periodontitis
minimally attached or unattached gingivae
gingival fragility
more
Skin Nails Hair Skin:
soft skin
atrophic scars
poor wound healing
easy bruising
prominent subcutaneous vasculature (rare)
more
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)

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

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

Growth Height:
tall stature (in some patients)
arm span wider than height (in some patients)

Head And Neck Face:
acrogeric facial appearance (rare)

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 29 C1R

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

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

40
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Periodontal Type, 1

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

(show all 31)
# Title Authors PMID Year
1
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. 6 56 61
27663155 2016
2
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). 6 56 61
25485215 2014
3
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. 61 6 56
22739343 2013
4
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 56 6
27745832 2016
5
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. 6 56
12776252 2003
6
Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII. 6 56
2260589 1990
7
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. 61 56
22419391 2012
8
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. 61 56
8494762 1993
9
Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII. 56 61
1789281 1991
10
Ehlers-Danlos syndrome type VIII. 61 56
7263975 1981
11
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. 56
21594996 2011
12
Genetic linkage studies. 56
16168786 2005
13
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 56
9557891 1998
14
Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome. 56
1953824 1991
15
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. 56
2875936 1986
16
Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis. 56
295230 1979
17
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. 6
890102 1977
18
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients. 61
24198978 2013
19
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 61
18284404 2008
20
What syndrome is this? Ehlers-Danlos syndrome type VIII. 61
17461822 2007
21
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. 61
16843123 2006
22
Ehlers-Danlos type VIII. Review of the literature. 61
11218502 2000
23
Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. 61
10721840 2000
24
Ehlers-Danlos syndrome type VIII and leukodystrophy. 61
8958339 1996
25
[A familial case of Ehlers-Danlos syndrome type VIII]. 61
8649017 1996
26
[Generalized periodontitis in the Ehlers-Danlos syndrome type VIII (a familial case)]. 61
9281197 1996
27
Ehlers-Danlos syndrome (type VIII). 61
8820341 1995
28
Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. 61
7606321 1995
29
[Ehlers-Danlos syndrome and pregnancy]. 61
2278221 1990
30
[Oral manifestations of Ehlers-Danlos syndrome type VIII]. 61
3475800 1987
31
Gingival fibrinoid deposits in Ehlers-Danlos syndrome. 61
2442332 1987

Variations for Ehlers-Danlos Syndrome, Periodontal Type, 1

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

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C1S NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)deletion Pathogenic 267348 rs886040974 12:7173895-7173897 12:7066591-7066593
2 C1S NM_001734.5(C1S):c.880T>C (p.Cys294Arg)SNV Pathogenic 267349 rs886040975 12:7173830-7173830 12:7066526-7066526
3 C1R NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)SNV Pathogenic 267351 rs1057518645 12:7086423-7086423
4 C1R NM_001733.7(C1R):c.902G>C (p.Arg301Pro)SNV Pathogenic 267352 rs760277934 12:7241449-7241449 12:7088853-7088853
5 C1R NM_001733.7(C1R):c.927C>G (p.Cys309Trp)SNV Pathogenic 267353 rs769707492 12:7241317-7241317 12:7088721-7088721
6 C1R NM_001733.7(C1R):c.899T>C (p.Leu300Pro)SNV Pathogenic 267354 rs1057515579 12:7241452-7241452 12:7088856-7088856
7 C1R NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)indel Pathogenic 267355 rs1057518646 12:7241317-7241327 12:7088721-7088731
8 C1R NM_001733.7(C1R):c.869A>G (p.Asp290Gly)SNV Pathogenic 267356 rs1057518643 12:7241482-7241482 12:7088886-7088886
9 C1R NM_001733.7(C1R):c.890G>A (p.Gly297Asp)SNV Pathogenic 372129 rs1057519026 12:7241461-7241461 12:7088865-7088865
10 C1R NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)indel Pathogenic 372130 rs1057519025 12:7244129-7244130 12:7091533-7091534
11 C1R NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)SNV Pathogenic 375578 rs1057519577 12:7241232-7241232 12:7088636-7088636
12 C1R NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)SNV Pathogenic 375577 rs1057519576 12:7241446-7241446 12:7088850-7088850
13 C1R NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)indel Pathogenic 375581 rs1057519580 12:7085919-7085934
14 C1R NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)SNV Pathogenic 375580 rs1057519579 12:7086383-7086383
15 C1R NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)SNV Pathogenic 375579 rs1057519578 12:7086404-7086404
16 C1R NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)SNV Pathogenic 375582 rs1060499554 12:7189381-7189381 12:7082077-7082077
17 C1R NM_001733.7(C1R):c.336G>C (p.Met112Ile)SNV Conflicting interpretations of pathogenicity 625897 rs139531404 12:7242740-7242740 12:7090144-7090144

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

73
# Symbol AA change Variation ID SNP ID
1 C1R p.Val50Asp VAR_077106
2 C1R p.Tyr302Cys VAR_077111 rs105751957
3 C1R p.Cys309Trp VAR_077113 rs769707492
4 C1R p.Cys338Arg VAR_077114 rs105751957
5 C1R p.Cys358Phe VAR_077115 rs105751864
6 C1R p.Cys371Trp VAR_077117 rs105751957

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

Pathways related to Ehlers-Danlos Syndrome, Periodontal Type, 1 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, 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 C1S C1R

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 C1S C1R
2 innate immune response GO:0045087 9.26 C1S C1R
3 complement activation, classical pathway GO:0006958 9.16 C1S C1R
4 regulation of complement activation GO:0030449 8.96 C1S C1R
5 complement activation GO:0006956 8.62 C1S C1R

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 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, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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