Disease #02585 (EDSCLL (Ehlers-Danlos-like syndrome, classic-like type (EDSCLL)), OMIM:606408)

Official abbreviation EDSCLL
Name Ehlers-Danlos-like syndrome, classic-like type (EDSCLL)
OMIM ID 606408
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 28
Phenotype entries for this disease 14
Associated with 1 gene TNXB
Associated tissues -
Disease features -
Remarks Formerly known as EDS due to Tenascin-X (TNX) deficiency.
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-07-31 12:14:24 +02:00 (CEST)


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00260657 patient PubMed: Rymen 2019, Journal: Rymen 2019 - F yes Switzerland - - - - - EDSCLL - TNXB TNXB 1 1 Marco Ritelli
00266303 Individual1 - - F - Italy - - - - - EDSCLL soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, chronic constipation, showed progressive finger contractures and shortened metatarsals TNXB TNXB 2 1 Lucia Micale
00266304 individual2 - - F - Italy - 26y - - - EDSCLL soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, and chronic constipation TNXB TNXB 2 1 Lucia Micale
00275686 - - - F no - - >40y - - - EDSCLL - - TNXB 2 1 Corinne Metay
00319498 Family XI PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319499 Family V PubMed: Demirdas et al., 2016 This patient was previously described in PubMed: Voermans et al., 2009.The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319500 Patient 2 PubMed: Micale et al., 2019 The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene. The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319502 Patient 1 PubMed: Micale et al., 2019 The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain. The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319503 Family IX PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319505 - PubMed: Sakiyama et al., 2015 The patient had recurrent gastrointenstinal perforation.The technique used was the custom NGS Gene panel. - - Japan Japanese - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319506 Family III PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319507 Family VIII PubMed: Demirdas et al., 2016 The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 3 1 Raymond Dalgleish
00319511 Family VII PubMed: Demirdas et al., 2016 This patient was previously described as Patient 2 in {PMID 21959861:Hendriks et al., 2012}. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 3 1 Raymond Dalgleish
00319517 - PubMed: Kaufman and Butler, 2016 The technique used was the custom NGS Gene panel. - - - Jewish-Ashkenazi - - - - EDS, EDSCLL - TNXB TNXB 1 1 Raymond Dalgleish
00319527 Family II PubMed: Demirdas et al., 2016 This patient was previously described in PubMed: Schalkwijk et al., 2001 as Patient 2. There are two other siblings carrying the same variant and phenotype. The variants are TNXA-derived, probably due to the formation of a chimeric gene. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319528 Family IV PubMed: Demirdas et al., 2016 This family was previously described in PubMed: Voermans et al., 2009. The patient carried a TNXB/TNXA fusion gene on the allele for Parent #1, causing a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 2 1 Raymond Dalgleish
00319541 Family X PubMed: Demirdas et al., 2016 This patient was previously described in {PMID21959861:Hendriks et al., 2012}. The patient carries a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #1.The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - TNXB TNXB 1 1 Raymond Dalgleish
00319543 - PubMed: Pénisson-Besnier et al., 2013 This patient's maternal allele carries a complex rearrangement, which was first described by {PMID9288108:Burch et al., 1997}. - - - - - - - - EDSCLL TNXB deficiency, TNXB TNXB 1 1 Raymond Dalgleish
00319544 - PubMed: Penisson-Besnier The patient carried a TNXA/TNXB fusion gene with a 30kb deletion on one allele, and the c.12214C>T variant on the other allele. His father and brother were asymptomatic and heterozygous for only the substitution variant. Authors predict that the variant is only pathogenic when compound heterozygous with another null allele. - - - - - - - - EDSCLL TNXB deficiency, TNXB TNXB 1 1 Raymond Dalgleish
00435339 Patient 1 - - F - Japan - - - - - EDSCLL - - TNXB 1 1 Tomoki Kosho
00435340 Patient 2 - - M - Japan - - - - - EDSCLL - - TNXB 1 1 Tomoki Kosho
00435341 Patient 3 - - M - Japan - - - - - EDSCLL - - TNXB 1 1 Tomoki Kosho
00435342 Patient 4 - - F - Japan - - - - - EDSCLL - - TNXB 2 1 Tomoki Kosho
00435344 Patient 5 - - F - Japan - - - - - EDSCLL - - TNXB 2 1 Tomoki Kosho
00435346 Patient 6 - - F - China - - - - - EDSCLL - - TNXB 1 1 Tomoki Kosho
00435348 Patient 7 - - M - Japan - - - - - EDSCLL - - TNXB 2 1 Tomoki Kosho
00435349 Patient 8 - - F - Japan - - - - - EDSCLL - - TNXB 2 1 Tomoki Kosho
00435351 Patient 9 - - F - Japan - - - - - EDSCLL - - TNXB 2 1 Tomoki Kosho
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