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Periodontal Ehlers-Danlos syndrome

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Name:
Periodontal Ehlers-Danlos syndrome
Description:
A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.
ORPHAcode:
75392
Synonyms:
EDS VIII
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
C1S
C1R
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ehlers Danlos periodontal type (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    C1R
    C1S
  • Ehlers-Danlos syndrome -UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 100.00 1
    AEBP1 100.00 1
    B3GALT6 100.00 1
    B3GAT3 100.00 1
    B4GALT7 100.00 1
    C1R 100.00 1
    C1S 100.00 1
    CHST14 100.00 1
    COL12A1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    COL3A1 100.00 1
    COL5A1 100.00 1
    COL5A2 100.00 1
    DSE 100.00 1
    FKBP14 100.00 1
    PLOD1 100.00 1
    PRDM5 100.00 1
    RIN2 100.00 1
    SLC39A13 100.00 1
    XYLT1 100.00 1
    XYLT2 100.00 1
    ZNF469 100.00 1
    FLNA 100.00 1
    FLNB 100.00 1
    TAB2 100.00 1