Disease #01301 (EDSHMB (Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3)), OMIM:130020)

Official abbreviation EDSHMB
Name Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3)
OMIM ID 130020
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 25
Phenotype entries for this disease 3
Associated with 1 gene TNXB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-01-15 08:54:52 +01:00 (CET)


Individuals

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00133648 - - - M ? Bosnia and Herzegovina - 02y - - - EDSHMB hypertelorism, pectus excavatum, clubfeet translucent skin, bilateral inguinal hernia and hypermobile joints muscle hypotonia poor muscle mass hydro-ureteronephrosis, hypospadias, food allergies, chronic diarrhea, recurrent bronchitis elongated cusps of the tricuspid valve with regurgitation thinned and elongated cusps of the mitral valve with mitral valve prolapse dilation of the pulmonary arteries with pulmonary hypertension and atrial septum defect with right atrial and ventricular dilatation broader interhemispheric fissures and subarachnoid spaces with echogenic parenchyma died due to severe pulmonary hypertension and heart failure FLNA FLNA 2 1 Elyssa Cannaerts
00318203 - - Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections. - - - white - - - - EDS, EDSHMB - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318796 - PubMed: Weerakkody et al., 2016 The variant in this patient (ID 417) is mistakenly reported as c.1922_1923+2delAAGT.Overlapping features of classical, hypermobility and (vascular) EDS: Widened atrophic scars, tissue fragility, marked generalised hypermobility (Beighton 6), normal facies, history of colonic perforation. Collagen proteins: absent proa1(III) and collagen III; LM: marked collagen depletion & increased elastin staining; EM: variable collagen fibril size & shape, dilated endoplasmic reticulum. - - - white - - - - EDS, EDSCL1, EDSHMB, EDSVASC - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318821 - - Other HDCT (phenotype largely outside EDS spectrum) with vascular phenotype: Marfanoid hypermobility, joint pain, soft thin skin, aortic dilatation, colitis - - - white - - - - EDS, EDSHMB, TAAD Aortic aneurysms and/or dissection, Aortic aneurysms, COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318837 - PubMed: Weerakkody et al., 2016 This patient was originally identified as ID 39 by the authors. The patient was subsequently described as a member of Family 4 by {PMID30837697:Ghali et al., 2019}.Hypermobility EDS / BJHS: marked hypermobility, bowel fragility. **This patient also has a VUS of COL1A2 (c.2861T>C : p.Ile954Thr) and a TNXB gene duplication (also of uncertain clinical significance) - - India Asian - - - - EDS, EDSHMB - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00318961 - PubMed: Narcisi et al., 1994 The patient also displayed symptoms of articular hypermobility syndrome. It appears that this patient is also presented as Patient 14 by PubMed: Pope et al., 1996. M - - - - - - - EDS, EDSHMB - COL3A1 COL3A1 1 1 Raymond Dalgleish
00318963 - PubMed: Weerakkody et al., 2016 Overlapping features of vascular and hypermobility type EDS. Original study ID 42. - - - white - - - - EDS, EDSHMB, EDSVASC - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00319364 Patient 4 PubMed: Stembridge et al., 2015 The patient's sister also harbours the same variant but has a milder phenotype. The authors are cautious about assigning pathogenicity to this variant. - - - - - - - - EDS, EDSHMB - COL3A1 COL3A1 1 1 Raymond Dalgleish
00319365 - - clinically marfanoid hypermobility syndrome, no clinical features of vascular EDS, normal collagen biochemistry (SDS-PAGE) and LM/EM studies. Patient's sister also carries the same variant but shows no clinical signs of vascular EDS. Crystallography studies do not support pathogenicity of the observed c-propeptide variant observed in this patient (see Stembridge et al. AJMG 2015). - - - white - - - - EDS, EDSHMB - COL3A1 COL3A1 1 1 Ruwan Weerakkody
00319392 - - - - - - white - - - - EDS, EDSHMB - COL5A2 COL5A2 1 1 Ruwan Weerakkody
00319420 - - Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections. - - - white - - - - EDS, EDSHMB - COL5A2 COL5A2 1 1 Ruwan Weerakkody
00319504 - - The testing laboratory (University of Nebraska Medical Center) describes this variant as being of Uncertain Clinical Significance.The status of patient's disease classification has been changed from EDS III to undiagnosed on the basis of further clinical tests - 3 May 2017. The technique used was the custom NGS Gene panel. - - - white - - - - EDS, EDSHMB - TNXB TNXB 1 1 James Bertz
00319512 - PubMed: Zweers et al., 2005 The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 3583AG. - - - - - - - - EDS, EDSHMB - TNXB TNXB 1 1 Raymond Dalgleish
00319516 - PubMed: Lee et al., 2014 The technique used was whole genome sequencing. - - - - - - - - EDS, EDSHMB - TNXB TNXB 1 1 Raymond Dalgleish
00319520 - - The patient's older affected sister also harbours the duplication sequence variant. - - - - - - - - EDS, EDSHMB - TNXB TNXB 2 1 Sandra Gajewski
00319524 - - Performed by Prevention Genetics.The proband's sister and daughter also harbour the same variant but are not definitively diagnosed as having EDS III. - - England;Netherlands English, Dutch - - - - EDS, EDSHMB - TNXB TNXB 1 1 Michelle Dolan
00319525 - - - - - Germany German - - - - EDS, EDSHMB - TNXB TNXB 1 1 Karina Sturm
00319530 - PubMed: Zweers et al., 2005 The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 12097CA.This is a common sequence variant which is unlikely to be disease-causing. - - - - - - - - EDS, EDSHMB - TNXB TNXB 1 1 Raymond Dalgleish
00319581 - PubMed: Emanuela et al., 2019 The patient has a daughter who was diagnosed for EDS hypermobility type. The patient is also diagnosed with hEDS due to flower-like collagen fibers, variable collagen fiber diameters, irregular interfiber spacing, and relatives diagnosed with hEDS/ - - - - - - - - EDS, EDSHMB Artery dissections, COL5A1 COL5A1 1 1 Raymond Dalgleish
00319653 - - - - - - white - - - - EDS, EDSHMB - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319688 - - - - - - white - - - - EDS, EDSHMB - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319730 - - Although RNA has not been analysed, the variant is predicted to cause exon skipping. - - - white - - - - EDS, EDSHMB - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00319767 - PubMed: Weerakkody et al., 2016 Original study ID 824. - - - white - - - - EDS, EDSHMB - COL5A1 COL5A1 1 1 Ruwan Weerakkody
00411451 F10 II-2 PubMed: Colman et al., 2022 - F ? Belgium - - - - - EDSHMB Recurrent joint dislocations and chronic widespread pain. Skin was fragile, hyperextensible and had a soft and doughy aspect with remarkable translucency.reported severe bruising tendency, and varicose veins at a young age. She presented generalised joint hypermobility of both distal and proximal joints with a Beighton score of 7/9. COL3A1, COL5A1, COL5A2 COL3A1 1 1 Oumaima Nehaili
00448523 A0790555 - - F no United States - >23y - no - EDSHMB - COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, TNXB COL5A2 1 1 Katelyn Schneider
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.