Disease #01769 (EDSDERMS (Ehlers-Danlos syndrome, dermatosparaxis type), OMIM:225410)

Official abbreviation EDSDERMS
Name Ehlers-Danlos syndrome, dermatosparaxis type
OMIM ID 225410
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 14
Phenotype entries for this disease -
Associated with 1 gene ADAMTS2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00318169 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 2 1 Sofie Symoens
00318172 P8 PubMed: Colige et al., 2004 This patient was subsequently described by PubMed: Malfait et al., 2004. The exact boundaries of the maternal deletion were not determined. - - - white - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 2 1 Raymond Dalgleish
00318173 P7 PubMed: Colige et al., 2004 This patient was subsequently described by PubMed: Malfait et al., 2004. The exact boundaries of the deletion variant were not determined. - - - white - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318174 Patient 6 PubMed: Colige et al., 1999 - - - - Jewish-Ashkenazi - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318175 Patient 2 PubMed: Colige et al., 1999 This patient was previously described by PubMed: Smith et al., 1992. - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318176 Patient 3 PubMed: Colige et al., 1999 This patient was previously described by {PMID8215497:Petty et al., 1993}. - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318177 Patient 4 PubMed: Colige et al., 1999 This patient was previously described by {PMID8986271:Fujimoto et al., 1997}. - - Mexico Mexican - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318178 Patient 5 PubMed: Colige et al., 1999 This patient was previously described by {PMID7735500:Reardon et al., 1995}. - - United Kingdom (Great Britain) British - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318179 - PubMed: Bar-Yosef et al., 2008 This variant is later described in {PMID29795570:Rivas et al., 2018} as a variant significantly enriched in the Ashkenazi Jewish population, with further detail. - - - Jewish-Ashkenazi - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318183 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Sofie Symoens
00318184 Patient 1 PubMed: Colige et al., 1999 This patient was previously descibed by PubMed: Nusgens et al., 1992 and subsequently by PubMed: Malfait et al., 2004 and in PubMed: De Coster et al., 2006 - - - white - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318185 - PubMed: Solomons et al., 2013 The parents of this patient are first cousins with no family history of the disease. - - Pakistan Pakistani - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Raymond Dalgleish
00318186 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Sofie Symoens
00318187 - PubMed: Van Damme et al., 2016 - - - - - - - - - EDS, EDSDERMS - ADAMTS2 ADAMTS2 1 1 Sofie Symoens
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