Disease #05879 (EDSARTH1;EDS7A (hlers-Danlos syndrome, arthrochalasia, type 1), OMIM:130060)

Official abbreviation EDSARTH1;EDS7A
Name hlers-Danlos syndrome, arthrochalasia, type 1
OMIM ID 130060
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 1
Associated with 1 gene COL1A1
Associated tissues -
Disease features -
Remarks -
Date created 2020-11-16 15:50:09 +01:00 (CET)
Date last edited 2025-06-05 20:08:32 +02:00 (CEST)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00320592 - PubMed: Nicholls et al., 2000 The deletion begins in exon 5 and ends in intron 6, resulting in the loss of exons 5 and 6. - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320625 - PubMed: Giunta et al., 2008 The variant results in use of a cryptic splice site resulting in loss of the first 15 bases of exon 6 in the mature transcript. This results in the loss of 5 amino acids from the protein including the N-proteinase cleavage site. - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320626 - PubMed: Byers et al., 1997 - - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Peter Byers
00320627 - PubMed: Nicholls et al., 2000 This mutation causes skipping of exon 6 as the minor product and use of an AG within exon 6 (bp 14 & 15) as the major product. The latter causes deletion of the first 5 amino acids of exon 6, abolishing the pro-peptide cleavage site. - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320642 - PubMed: Weil et al., 1989 The exonic mutation results predominantly in the skipping of exon 6 but a small amount of correctly spliced mRNA is produced coding for the Ile substitution. - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320643 - PubMed: D'Alessio et al., 1991 The exonic mutation results predominantly in the skipping of exon 6 but a small amount of correctly spliced mRNA is produced coding for the Ile substitution. The ratio of mis-spliced to correctly spliced mRNA is temperature dependant. - - - - - - - - EDS, EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Raymond Dalgleish
00377137 181226 - - F no Germany - - - - - EDSARTH1;EDS7A Joint hypermobility, striae COL1A1 COL1A1 1 1 Andreas Laner
00417578 - - - - - - - - - - - EDSARTH1;EDS7A - COL1A1 COL1A1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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