Disease #00634 (EDSARTH2 (Ehlers-Danlos syndrome, arthrochalasia, type 2), OMIM:617821)

Official abbreviation EDSARTH2
Name Ehlers-Danlos syndrome, arthrochalasia, type 2
OMIM ID 617821
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 27
Phenotype entries for this disease -
Associated with 2 genes COL1A1, COL1A2
Associated tissues -
Disease features -
Remarks -


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00322832 - PubMed: Giunta and Steinmann, 2008 The deletion causes skipping of exon 6. The patient's daughter also harbours the same mutation. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322833 - PubMed: Byers et al., 1997 The mutation in this patient in terms of genomic coordinates is g.11990_12072del - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322834 - PubMed: Byers et al., 1997 - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322835 - PubMed: Marini et al., 2007 (Marini, Cabral and Pals, personal communication) - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322836 - PubMed: Klaassens et al., 2011 The mutation results in use of a cryptic splice site 15 bases into exon 6, resulting in the loss of the first 5 amino acids. - - - white - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322837 - PubMed: Byers et al., 1997 - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322838 - PubMed: Chiodo et al., 1992 The mutation acivates a cryptic splice acceptor in exon 6 resulting in the loss of the first 5 amino acids encoded by that exon. - - - - - - - - EDS, EDSARTH2 Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, COL1A2 COL1A2 1 1 Raymond Dalgleish
00322840 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322841 - PubMed: Weil et al., 1989b Skips exon 6. The mutation was demonstrated to be temperature-sensitive in this patient. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322842 - PubMed: Weil et al., 1990 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322843 - PubMed: Vasan et al., 1991 Skips exon 6.The technique used was S1 nuclease. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322844 - PubMed: Nicholls et al., 1991 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322845 - PubMed: Watson et al., 1992 Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322846 - PubMed: Lehmann et al., 1994 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322847 - PubMed: Giunta et al., 1999 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322848 - PubMed: Klaassens et al., 2011 - - - - white - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322849 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322850 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Peter Byers
00322851 - PubMed: Nicholls et al., 2000 Skips exon 6. The proband's mother is somatically mosaic for the same mutation. - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322852 - PubMed: Klaassens et al., 2011 The patient's father has mild symptoms of EDS but somatic mosaicism was not demonstrated by mutation analysis of blood, fibroblast and saliva DNA. - - - white - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322853 - PubMed: Hatamochi et al., 2014 Analysis of mRNA demonstrates skipping of exon 6. - - - Japanese - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322854 - PubMed: Weil et al., 1988 Skips exon 6. This patient was previously described by {PMID3680255:Wirtz et al., 1987} - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322855 - PubMed: Ho et al., 1994 - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322856 - PubMed: Giunta et al., 1999 - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322857 - PubMed: Melis et al., 2012 - - - - - - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00322858 - PubMed: Klaassens et al., 2011 The mother may have some connective tissue disorder, but the patient's mutation is not found in lymphocyte DNA. The mother has a Beighton hypermobility score of 4/9. - - - white - - - - EDS, EDSARTH2 - COL1A2 COL1A2 1 1 Raymond Dalgleish
00323539 - PubMed: Raff et al., 2000 - - - - - - - - - EDS, EDSARTH2 Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, COL1A2 COL1A2 3 1 Peter Byers
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