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 57 74
Ehlers-Danlos Syndrome, Type Viii 57 74 13 72
Ehlers-Danlos Syndrome, Periodontitis Type 57 74
Ehlers-Danlos Syndrome, Periodontosis Type 57 74
Ehlers-Danlos Syndrome, Type 8 29 6
Eds Viii 57 74
Edspd1 57 74
Eds8 57 74
Ehlers-Danlos Syndrome, Type Viii; Eds8 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ehlers-danlos syndrome, periodontal type, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D004535
UMLS 72 C0268347

Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 1

OMIM : 57 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 scoliosis and arachnodactyly

UniProtKB/Swiss-Prot : 74 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 15)
# Related Disease Score Top Affiliating Genes
1 periodontal ehlers-danlos syndrome 32.3 C1S C1R
2 ehlers-danlos syndrome, periodontal type, 2 13.0
3 ehlers-danlos syndrome 10.8
4 periodontitis 10.7
5 hypermobile ehlers-danlos syndrome 10.4
6 marfan syndrome 10.2
7 leukodystrophy 10.2
8 root resorption 10.2
9 osteoarthritis 10.2
10 premature aging 10.2
11 immunodeficiency due to a classical component pathway complement deficiency 9.6 C1S C1R
12 gingival recession 9.5 C1S C1R
13 retinitis pigmentosa 43 9.5 C1S C1R
14 lupus erythematosus 9.4 C1S C1R
15 systemic lupus erythematosus 9.2 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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 occasional (7.5%) HP:0002650
2 arachnodactyly 32 occasional (7.5%) HP:0001166
3 recurrent infections 32 occasional (7.5%) HP:0002719
4 tall stature 32 occasional (7.5%) HP:0000098
5 generalized joint laxity 32 occasional (7.5%) HP:0002761
6 inguinal hernia 32 HP:0000023
7 thin skin 32 HP:0000963
8 gingival bleeding 32 HP:0000225
9 autoimmunity 32 HP:0002960
10 joint laxity 32 HP:0001388
11 periodontitis 32 HP:0000704
12 bruising susceptibility 32 HP:0000978
13 hoarse voice 32 HP:0001609
14 blue sclerae 32 HP:0000592
15 hyperextensible skin 32 HP:0000974
16 premature loss of teeth 32 HP:0006480
17 poor wound healing 32 HP:0001058
18 atrophic scars 32 HP:0001075
19 palmoplantar cutis laxa 32 HP:0007517
20 gingival recession 32 HP:0030816
21 soft skin 32 HP:0000977
22 intestinal perforation 32 HP:0031368
23 alveolar bone loss around teeth 32 HP:0410027

Symptoms via clinical synopsis from OMIM:

57
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
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:

41
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. 38 8 71
27663155 2016
2
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). 38 8 71
25485215 2014
3
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. 38 8 71
22739343 2013
4
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 8 71
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. 8 71
12776252 2003
6
Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII. 8 71
2260589 1990
7
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. 38 8
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. 38 8
8494762 1993
9
Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII. 38 8
1789281 1991
10
Ehlers-Danlos syndrome type VIII. 38 8
7263975 1981
11
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. 8
21594996 2011
12
Genetic linkage studies. 8
16168786 2005
13
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 8
9557891 1998
14
Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome. 8
1953824 1991
15
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. 8
2875936 1986
16
Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis. 8
295230 1979
17
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. 71
890102 1977
18
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients. 38
24198978 2013
19
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 38
18284404 2008
20
What syndrome is this? Ehlers-Danlos syndrome type VIII. 38
17461822 2007
21
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. 38
16843123 2006
22
Ehlers-Danlos type VIII. Review of the literature. 38
11218502 2000
23
Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. 38
10721840 2000
24
Ehlers-Danlos syndrome type VIII and leukodystrophy. 38
8958339 1996
25
[A familial case of Ehlers-Danlos syndrome type VIII]. 38
8649017 1996
26
[Generalized periodontitis in the Ehlers-Danlos syndrome type VIII (a familial case)]. 38
9281197 1996
27
Ehlers-Danlos syndrome (type VIII). 38
8820341 1995
28
Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. 38
7606321 1995
29
[Ehlers-Danlos syndrome and pregnancy]. 38
2278221 1990
30
[Oral manifestations of Ehlers-Danlos syndrome type VIII]. 38
3475800 1987
31
Gingival fibrinoid deposits in Ehlers-Danlos syndrome. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C1R NM_001733.7(C1R): c.890G> A (p.Gly297Asp) single nucleotide variant Pathogenic rs1057519026 12:7241461-7241461 12:7088865-7088865
2 C1R NM_001733.7(C1R): c.149_150delTCinsAT (p.Val50Asp) indel Pathogenic rs1057519025 12:7244129-7244130 12:7091533-7091534
3 C1R NM_001733.7(C1R): c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) indel Pathogenic rs1057519580
4 C1R NM_001733.7(C1R): c.1113C> G (p.Cys371Trp) single nucleotide variant Pathogenic rs1057519579
5 C1R NM_001733.7(C1R): c.1092G> C (p.Trp364Cys) single nucleotide variant Pathogenic rs1057519578
6 C1R NM_001733.7(C1R): c.1012T> C (p.Cys338Arg) single nucleotide variant Pathogenic rs1057519577 12:7241232-7241232 12:7088636-7088636
7 C1R NM_001733.7(C1R): c.905A> G (p.Tyr302Cys) single nucleotide variant Pathogenic rs1057519576 12:7241446-7241446 12:7088850-7088850
8 C1R NM_001733.7(C1R): c.1303T> C (p.Trp435Arg) single nucleotide variant Pathogenic rs1060499554 12:7189381-7189381 12:7082077-7082077
9 C1S NM_001734.5(C1S): c.945_947del (p.Asp315_Val316delinsGlu) deletion Pathogenic rs886040974 12:7173895-7173897 12:7066591-7066593
10 C1S NM_001734.5(C1S): c.880T> C (p.Cys294Arg) single nucleotide variant Pathogenic rs886040975 12:7173830-7173830 12:7066526-7066526
11 C1R NM_001733.7(C1R): c.1073G> T (p.Cys358Phe) single nucleotide variant Pathogenic rs1057518645
12 C1R NM_001733.7(C1R): c.902G> C (p.Arg301Pro) single nucleotide variant Pathogenic rs760277934 12:7241449-7241449 12:7088853-7088853
13 C1R NM_001733.7(C1R): c.927C> G (p.Cys309Trp) single nucleotide variant Pathogenic rs769707492 12:7241317-7241317 12:7088721-7088721
14 C1R NM_001733.7(C1R): c.899T> C (p.Leu300Pro) single nucleotide variant Pathogenic rs1057515579 12:7241452-7241452 12:7088856-7088856
15 C1R NM_001733.7(C1R): c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) indel Pathogenic rs1057518646 12:7241317-7241327 12:7088721-7088731
16 C1R NM_001733.7(C1R): c.869A> G (p.Asp290Gly) single nucleotide variant Pathogenic rs1057518643 12:7241482-7241482 12:7088886-7088886
17 C1R NM_001733.7(C1R): c.336G> C (p.Met112Ile) single nucleotide variant Uncertain significance 12:7242740-7242740 12:7090144-7090144

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

74
# 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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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