Disease #00169

Official abbreviation EDS
Name syndrome, Ehlers-Danlos (EDS)
OMIM ID 130000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 45
Phenotype entries for this disease 44
Associated with 9 genes ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB
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Individuals

45 entries on 1 page. Showing entries 1 - 45.
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00001642 - PubMed: Baumann 2012 - M ? Austria Caucasian - - - - EDS hypermobility of large joints; hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; eyse bluish sclerae; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, hypertrophic scars FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001643 - PubMed: Baumann 2012 umbical herniae F ? Austria Caucasian - - - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, easy bruising FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001644 - PubMed: Baumann 2012 umbilical herniae F ? Italy Caucasian - - - - EDS hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, easy bruising FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001645 - PubMed: Baumann 2012 - F ? France Caucasian - - - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: soft, plantar softness, follicular hyperkeratosis FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001646 - PubMed: Baumann 2012, Journal: Baumann 2012 umbilical herniae, microcephaly, learning difficulties M ? - Caucasian - 0 - - EDS hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet;fractures; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; valvular abnormalities heart; skin: hyperelastic, soft, plantar softness, easy bruising FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001647 P6 PubMed: Baumann 2012, Journal: Baumann 2012 - F ? Germany Caucasian - 0 - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis FKBP14 FKBP14 2 1 Division of Human Genetics, Innsbruck
00001766 - Submitted by J. Zschocke - M ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001767 - Submitted by J. Zschocke - F ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001768 - PubMed: Ensenauer 2000, Patient 1 in PubMed: IJlst 2002, Patient 6 in PubMed: Wortmann 2010 - M ? Afghanistan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001769 - Patient 2 in PubMed: IJlst 2002, Patient 3 in PubMed: Ly 2003, Patient 10 in PubMed: Wortmann 2010 sibling of patient 9 in Wortmann et al. (2010) = patient 2 in Ly et al. (2003) M ? Morocco - - - - - EDS ascertainment ; family analysis AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001770 - Patient 1 in PubMed: Ly 2003, Patient 4 in PubMed: Wortmann 2010 - M ? Lebanon - - - - - EDS ascertainment ; newborn screening AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001771 - PubMed: Ensenauer 2000, PubMed: Ly 2003 - M ? Afghanistan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001772 - Patient 5 in PubMed: Ly 2003, PubMed: Gibson 1998, PubMed: Jooste 1994, Patient 7 in PubMed: Wortmann 2010 - F ? - - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001773 - PubMed: Illsinger 2004, Patient 8 in PubMed: Wortmann 2010 - M ? Germany Caucasian - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001774 - PubMed: Shoji 1999, PubMed: Matsumori 2005, Patient 5 in PubMed: Wortmann 2010 - M ? Japan - - - - - EDS ascertainment ; clinical presentation AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001775 - Patient 1 in PubMed: Wortmann 2010, PubMed: Engelke 2006 - F ? Netherlands - - - - - EDS ascertainment ; clinical presentation; optic atrophy, ataxia, spasticity AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001776 - Patient 2 in PubMed: Wortmann 2010 - M yes United Kingdom (Great Britain) - - - - - EDS ascertainment ; clinical presentation; dementia, ataxia, spasticity, cerebellar syndrome AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001777 - Patient 2 in PubMed: Ly 2003, Patient 9 in PubMed: Wortmann 2010 sibling of patient 2 in Ijlst et al. (2002) = patient 3 in Ly et al. (2003) = patient 10 in Wortmann et al. (2010) M ? Morocco - - - - - EDS - AUH AUH 2 1 Division of Human Genetics, Innsbruck
00001778 - PubMed: Eriguchi 2006, Patient 3 in PubMed: Wortmann 2010 - F yes - - - - - - EDS ascertainment ; clinical presentation; dementia, ataxia AUH AUH 2 1 Division of Human Genetics, Innsbruck
00080065 - - - - - Germany - - 0 - - EDS - COL5A2 COL5A2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00095104 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, heterozygous carrier mother with mild joint hypermobility (Beighton score 4/8) and no neurological symptomatology M - - - - 0 added by student Rosa van Ewijk - EDS pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110) FLNA FLNA 1 2 Johan den Dunnen
00095105 - PubMed: Reinstein 2013, Journal: Reinstein 2013 2-generation family, isolated case, unaffected heterozygous carrier mother M - - - - 0 added by student Rosa van Ewijk - EDS abnormality of the tricuspid valve (HP0001702) abnormality of the mitral valve (HP0001633) cutis laxa (HP0000973) FLNA FLNA 1 1 Johan den Dunnen
00132808 09683580-FamMK PubMed: Burrows 1998 5-generation family, 18 affecteds (7F, 11M) F;M no United Kingdom (Great Britain) - - 0 - - EDS Ehlers-Danlos Syndrome type II COL5A1 COL5A1 1 18 Johan den Dunnen
00132809 09683580-FamCH PubMed: Burrows 1998 5-generation family, affecteds (6F, 8M) F;M no United Kingdom (Great Britain) - - 0 - - EDS Ehlers-Danlos Syndrome type II COL5A1 COL5A1 1 14 Johan den Dunnen
00164776 FamD-II:1 - 2 affected siblings (1F, 1M), unaffected heterozygous mother F no (Greece) - - 0 yes corset, hand splints EDS Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis , - AEBP1 1 2 Moritz Hebebrand
00164777 29606302-FamAII1 PubMed: Blackburn 2019 2-generation family, 1 affected, unaffected carrier parents M no Germany;Panama white - 0 no - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules - AEBP1 2 1 Moritz Hebebrand
00164779 29606302-FamBII1 PubMed: Blackburn 2018 2-generation family, 1 affected, unaffected carrier parents M no Italy white - 0 - - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, scoliosis, thoracic scoliosis, facet joint arthrosis, degenerative disc disease, severe osteopenia, mitral valve prolapse, aortic dilatation, carotid artery stenosis, structural foot deformity, Piezogenic pedal papules, sacral dimple, hypertriglyceridemia MRI: empty sella - AEBP1 1 1 Moritz Hebebrand
00164781 27023906, 29606302-FamCIV4/6 PubMed: Alazami 2016, PubMed: Blackburn 2018 - F yes ? (unknown) middle eastern - 0 - - EDS Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, hernias, Interpedicular narrowing, severe osteopenia, structural foot deformity, congenital hypotonia, poor feeding, motor delay, diabetes mellitus, cellulitis, micrognathia, high arched palate, bilateral ptosis, AEBP1 AEBP1 1 2 Moritz Hebebrand
00260890 P1/FI PubMed: Giunta 2018 - F - Egypt Arab - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260891 P2/FII PubMed: Giunta 2018 - F - Iran - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260892 P3/FIII PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 2 Johan den Dunnen
00260893 P4/FIII PubMed: Giunta 2018 - M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260894 P5/FIV PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 2 Johan den Dunnen
00260895 P6/FIV PubMed: Giunta 2018 - M - Pakistan - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260896 P7/FV PubMed: Giunta 2018 - F - Croatia (Hrvatska) - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260897 P8/FVI PubMed: Giunta 2018 - F - Austria - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260898 P9/FVII PubMed: Giunta 2018 - F - Brazil white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260899 P10/FVIII PubMed: Giunta 2018 - F - United States white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260900 P11/FIX PubMed: Giunta 2018 - M - United States white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260901 P12/FX PubMed: Giunta 2018 - F - Poland - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260902 P13/FXI PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260903 P14/FXII PubMed: Giunta 2018 - M - Turkey - - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260904 P15/FXIII PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260905 P16/FXIV PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS see paper; … FKBP14 FKBP14 1 1 Johan den Dunnen
00260906 Pat17 PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS - FKBP14 FKBP14 1 1 Johan den Dunnen
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