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Arthrochalasia Ehlers-Danlos syndrome

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Name:
Arthrochalasia Ehlers-Danlos syndrome
Description:
A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.
ORPHAcode:
1899
Synonyms:
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
COL1A2
COL1A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ehlers Danlos / arthrochalasis type VIIA –VIIB (ex 5-8) (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL5A1
    COL5A2
  • 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