Disease #05753 (EDSMC (Ehlers-Danlos, musculocontractural syndrome (EDSMC)))

Official abbreviation EDSMC
Name Ehlers-Danlos, musculocontractural syndrome (EDSMC)
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 1
Associated with 2 genes CHST14, DSE
Associated tissues -
Disease features -
Remarks -
Date created 2020-05-19 16:09:03 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00319464 Family 12 PubMed: Alazami et al., 2016 There are two affected individuals in this family.The formal ID for this family is 12DG0445.The technique used was whole exome sequencing. - - - - - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319470 P1/I PubMed: Janecke et al., 2016 This family was first reported in PubMed: Steinmann et al., 1975. The patient has a sibling (P2/I) who also carries the variants and phenotype, and 2 healthy younger brothers. - - Pakistan Pakistani - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319472 - PubMed: Kono et al., 2016 - - - Japan Japanese - - - - EDS, EDSMC - CHST14 CHST14 2 1 Raymond Dalgleish
00319474 P3/II PubMed: Janecke et al., 2016 - - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319476 P6/IV PubMed: Janecke et al., 2016 The patient has an affected brother who also carries the same variants. Their parents are heterozygous for the variants. - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319477 Patient 1 PubMed: Mendoza-Londono et al., 2012 The patient has a sister who is also homozygous for the mutation. - - Afghanistan Afghani - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319486 P4/III PubMed: Janecke et al., 2016 The patient has a younger brother (P5/III) who also carries the variants and phenotype. Their mother was heterozygous for the variant, and DNA from the father was unavailable for analysis. - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319816 Patient 18 PubMed: Ranza 2017 The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. The technique used was whole exome sequencing. - - Morocco Moroccan - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319817 Patient 1 PubMed: Lautrup 2020 The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents. - - Turkey Turkish - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319818 Patient 2 PubMed: Lautrup 2020 The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents. - - India Indian - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319819 Patient 1 PubMed: Schirwani 2020 The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible. The technique used was whole exome sequencing. - - Portugal Portuguese - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319820 Patient 2 PubMed: Schirwani 2020 The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. The technique used was the custom exome panel. - - Pakistan Pakistani - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00428047 1 PubMed: Sandal et al., 2018 - M yes India - - - - - EDSMC Bilateral hydronephrosis with bilateral pelviureteric junction obstruction (right >left). Facial dysmorphism, bilateral cryptorchidism. Bilateral talipes equinovarus. CHST14 CHST14 1 1 Oumaima Nehaili
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