MCID: EHL072
MIFTS: 20

Ehlers-Danlos Syndrome, Periodontal Type, 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Rare 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 75 29 6
Edspd2 57 75

Characteristics:

OMIM:

57
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:

32
ehlers-danlos syndrome, periodontal type, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Periodontal Type, 2

UniProtKB/Swiss-Prot : 75 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, is also known as edspd2. An important gene associated with Ehlers-Danlos Syndrome, Periodontal Type, 2 is C1S (Complement C1s). Affiliated tissues include skin, breast and lung, and related phenotypes are gingival bleeding and bruising susceptibility

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gingival bleeding 32 occasional (7.5%) HP:0000225
2 bruising susceptibility 32 HP:0000978
3 fragile skin 32 HP:0001030
4 joint hypermobility 32 occasional (7.5%) HP:0001382
5 scoliosis 32 occasional (7.5%) HP:0002650
6 neoplasm 32 HP:0002664
7 arthralgia 32 occasional (7.5%) HP:0002829

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:

41
Skin, Breast, Lung, Colon

Publications for Ehlers-Danlos Syndrome, Periodontal Type, 2

Variations for Ehlers-Danlos Syndrome, Periodontal Type, 2

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

75
# 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
# 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

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

Sources for Ehlers-Danlos Syndrome, Periodontal Type, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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