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	ehlers danlos syndrome

Disease ID	164
Disease	ehlers danlos syndrome
Definition	A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
Synonym	cutis elastica cutis hyperelastica cutis hyperelastica (disorder) cutis hyperelastica dermatorrhexis danlos disease danlos disease, ehlers danlos ehlers syndrome disease, ehlers danlos disease, ehlers-danlos dystrophia mesodermalis congenita eds eds - ehlers-danlos syndrome eds ehlers danlos syndrome ehler danlos syndrome ehlers danlos dis ehlers danlos disease ehlers danlos syndromes ehlers-danlos disease ehlers-danlos syndrome ehlers-danlos syndrome (disorder) ehlers-danlos syndrome [disease/finding] ehlers-danlos syndrome, nos elastic skin fibrodysplasia elastica generalisata hereditary collagen dysplasia india rubber skin meekeren-ehlers-danlos syndrome skin elastic syndrome, ehlers-danlos
Orphanet	ORPHANET:98249
DOID	DOID:13359
ICD10	ICD10CM:Q79.6
UMLS	C0013720
MeSH	D004535
SNOMED-CT	SNOMEDCT_US_2016_09_01:398114001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:31) C0026848 \| myopathy \| 2 C0036439 \| scoliosis \| 2 C0021845 \| bowel perforation \| 2 C0014544 \| epilepsy \| 2 C0155746 \| subclavian artery aneurysm \| 2 C0017601 \| glaucoma \| 1 C0878693 \| conjunctivochalasis \| 1 C0014118 \| endocarditis \| 1 C0022116 \| ischemia \| 1 C0011570 \| depression \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C1621895 \| adrenal hyperplasia \| 1 C0007786 \| brain ischemia \| 1 C0004352 \| autistic disorder \| 1 C0017612 \| open angle glaucoma \| 1 C0029408 \| osteoarthritis \| 1 C0270810 \| peroneal nerve palsy \| 1 C0152025 \| polyneuropathy \| 1 C0009326 \| collagen disorders \| 1 C0040961 \| tricuspid insufficiency \| 1 C0021845 \| intestinal perforation \| 1 C0042345 \| varicose veins \| 1 C0042345 \| varicose vein \| 1 C0524812 \| intracranial hypotension \| 1 C0175702 \| williams syndrome \| 1 C0040053 \| thrombosis \| 1 C0039494 \| temporomandibular disorders \| 1 C0032326 \| pneumothorax \| 1 C0037315 \| sleep-disordered breathing \| 1 C0039494 \| temporomandibular disorder \| 1 C0878544 \| cardiomyopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:19) 1278 \| COL1A2 \| GHR;UNIPROT;UniProtKB-KW 126792 \| B3GALT6 \| UniProtKB-KW 1277 \| COL1A1 \| GHR;UNIPROT;UniProtKB-KW 2335 \| FN1 \| UNIPROT 2316 \| FLNA \| UNIPROT 7148 \| TNXB \| UniProtKB-KW;GHR 1281 \| COL3A1 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 1290 \| COL5A2 \| GHR;UNIPROT;UniProtKB-KW 1289 \| COL5A1 \| GHR;UNIPROT;UniProtKB-KW 113189 \| CHST14 \| UniProtKB-KW 5351 \| PLOD1 \| GHR;UNIPROT;UniProtKB-KW 716 \| C1S \| UniProtKB-KW 9509 \| ADAMTS2 \| UniProtKB-KW;GHR 29940 \| DSE \| UniProtKB-KW 55033 \| FKBP14 \| UniProtKB-KW 84627 \| ZNF469 \| UNIPROT 11285 \| B4GALT7 \| UniProtKB-KW;UNIPROT 715 \| C1R \| UniProtKB-KW 91252 \| SLC39A13 \| CTD_human;UniProtKB-KW;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 7148 \| TNXB \| CIPHER 1281 \| COL3A1 \| CTD_human 91252 \| SLC39A13 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:94) 36 \| ACADSB \| 2.384 \| DISEASES 11093 \| ADAMTS13 \| 1.996 \| DISEASES 140766 \| ADAMTS14 \| 3.859 \| DISEASES 80070 \| ADAMTS20 \| 2.423 \| DISEASES 9507 \| ADAMTS4 \| 1.582 \| DISEASES 9719 \| ADAMTSL2 \| 2.372 \| DISEASES 5832 \| ALDH18A1 \| 1.91 \| DISEASES 85365 \| ALG2 \| 2.37 \| DISEASES 257 \| ALX3 \| 1.083 \| DISEASES 10564 \| ARFGEF2 \| 2.142 \| DISEASES 23545 \| ATP6V0A2 \| 1.28 \| DISEASES 538 \| ATP7A \| 1.052 \| DISEASES 549 \| AUH \| 2.337 \| DISEASES 126792 \| B3GALT6 \| 5.084 \| DISEASES 2683 \| B4GALT1 \| 1.357 \| DISEASES 633 \| BGN \| 3.99 \| DISEASES 84281 \| C2orf88 \| 3.963 \| DISEASES 722 \| C4BPA \| 1.449 \| DISEASES 114769 \| CARD16 \| 3.391 \| DISEASES 9973 \| CCS \| 1.941 \| DISEASES 146059 \| CDAN1 \| 1.508 \| DISEASES 1108 \| CHD4 \| 1.565 \| DISEASES 9469 \| CHST3 \| 1.573 \| DISEASES 1301 \| COL11A1 \| 1.902 \| DISEASES 1302 \| COL11A2 \| 1.285 \| DISEASES 1305 \| COL13A1 \| 2.429 \| DISEASES 1306 \| COL15A1 \| 2.187 \| DISEASES 1280 \| COL2A1 \| 3.01 \| DISEASES 1289 \| COL5A1 \| 6.981 \| DISEASES 1290 \| COL5A2 \| 6.381 \| DISEASES 1291 \| COL6A1 \| 1.123 \| DISEASES 81035 \| COLEC12 \| 2.141 \| DISEASES 399697 \| CTXN2 \| 2.935 \| DISEASES 1589 \| CYP21A2 \| 3.181 \| DISEASES 1810 \| DR1 \| 1.201 \| DISEASES 29940 \| DSE \| 2.973 \| DISEASES 1854 \| DUT \| 1.551 \| DISEASES 2200 \| FBN1 \| 4.354 \| DISEASES 2316 \| FLNA \| 3.42 \| DISEASES 2317 \| FLNB \| 1.154 \| DISEASES 2331 \| FMOD \| 3.087 \| DISEASES 2335 \| FN1 \| 1.217 \| DISEASES 2591 \| GALNT3 \| 1.543 \| DISEASES 2618 \| GART \| 1.251 \| DISEASES 92344 \| GORAB \| 3.067 \| DISEASES 2239 \| GPC4 \| 1.973 \| DISEASES 51454 \| GULP1 \| 2.323 \| DISEASES 26275 \| HIBCH \| 2.36 \| DISEASES 3158 \| HMGCS2 \| 1.77 \| DISEASES 3339 \| HSPG2 \| 1.156 \| DISEASES 3590 \| IL11RA \| 2.185 \| DISEASES 3628 \| INPP1 \| 2.673 \| DISEASES 3745 \| KCNB1 \| 1.209 \| DISEASES 3786 \| KCNQ3 \| 1.039 \| DISEASES 56479 \| KCNQ5 \| 1.675 \| DISEASES 54900 \| LAX1 \| 3.578 \| DISEASES 4145 \| MATK \| 1.168 \| DISEASES 4157 \| MC1R \| 1.382 \| DISEASES 219541 \| MED19 \| 1.654 \| DISEASES 8076 \| MFAP5 \| 2.126 \| DISEASES 92399 \| MRRF \| 1.605 \| DISEASES 4439 \| MSH5 \| 1.69 \| DISEASES 4629 \| MYH11 \| 2.388 \| DISEASES 4664 \| NAB1 \| 2.884 \| DISEASES 23218 \| NBEAL2 \| 1.201 \| DISEASES 4745 \| NELL1 \| 1.727 \| DISEASES 56953 \| NT5M \| 1.055 \| DISEASES 94101 \| ORMDL1 \| 2.989 \| DISEASES 5101 \| PCDH9 \| 2.249 \| DISEASES 221692 \| PHACTR1 \| 1.911 \| DISEASES 5498 \| PPOX \| 1.166 \| DISEASES 9991 \| PTBP3 \| 2.631 \| DISEASES 5831 \| PYCR1 \| 1.178 \| DISEASES 22930 \| RAB3GAP1 \| 1.689 \| DISEASES 6005 \| RHAG \| 2.401 \| DISEASES 79641 \| ROGDI \| 2.436 \| DISEASES 6256 \| RXRA \| 1.827 \| DISEASES 871 \| SERPINH1 \| 1.205 \| DISEASES 283652 \| SLC24A5 \| 1.994 \| DISEASES 81031 \| SLC2A10 \| 2.037 \| DISEASES 91252 \| SLC39A13 \| 5.599 \| DISEASES 4088 \| SMAD3 \| 2.243 \| DISEASES 6677 \| SPAM1 \| 1.452 \| DISEASES 51347 \| TAOK3 \| 1.407 \| DISEASES 6905 \| TBCE \| 1.238 \| DISEASES 7046 \| TGFBR1 \| 3.497 \| DISEASES 7048 \| TGFBR2 \| 3.471 \| DISEASES 7148 \| TNXB \| 6.362 \| DISEASES 7227 \| TRPS1 \| 1.404 \| DISEASES 7415 \| VCP \| 1.234 \| DISEASES 157680 \| VPS13B \| 1.049 \| DISEASES 30813 \| VSX1 \| 1.63 \| DISEASES 56897 \| WRNIP1 \| 1.895 \| DISEASES 84627 \| ZNF469 \| 5.903 \| DISEASES
Locus	(Waiting for update.)

Disease ID	164
Disease	ehlers danlos syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0002617 \| Aneurysmal dilatation \| 9 HP:0002650 \| Scoliosis \| 2 HP:0003198 \| Myopathic changes \| 2 HP:0002107 \| Collapsed lung \| 2 HP:0200034 \| Papule \| 2 HP:0002751 \| Kyphoscoliosis \| 2 HP:0002948 \| Fusion of vertebral bodies \| 2 HP:0001788 \| Premature rupture of membranes \| 1 HP:0008443 \| Spinal deformities \| 1 HP:0012328 \| Cementoma \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0012541 \| Cephalohaematoma \| 1 HP:0100584 \| Endocarditis \| 1 HP:0002637 \| Brain ischemia \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0100550 \| Rupture of tendons \| 1 HP:0000501 \| Glaucoma \| 1 HP:0003834 \| Shoulder dislocation \| 1 HP:0011967 \| Hypocupremia \| 1 HP:0008258 \| Congenital adrenal hyperplasia \| 1 HP:0002781 \| Upper airway obstruction \| 1 HP:0012531 \| Pain \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0012163 \| Carotid artery aneurysm \| 1 HP:0000978 \| Bruisability \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0002619 \| Varicose veins \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0025019 \| Arterial rupture \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0012641 \| Decreased intracranial pressure \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0000958 \| Xerosis \| 1 HP:0000974 \| Stretchable skin \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0000716 \| Depression \| 1 HP:0004850 \| Recurrent deep vein thrombosis \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0010562 \| Keloids \| 1 HP:0100033 \| Tic disorder \| 1 HP:0002282 \| Heterotopias \| 1 HP:0100790 \| Hernia \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002253 \| Colonic diverticulosis \| 1

Disease ID	164
Disease	ehlers danlos syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0243050 \| cardiovascular abnormality C0238045 \| carotid cavernous fistula C0149957 \| papillary muscle dysfunction C0021845 \| bowel perforation
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0002940 \| aneurysms \| 5 C0238045 \| carotid-cavernous fistula \| 5 C0016169 \| fistula \| 5 C0002940 \| aneurysm \| 4 C0014544 \| epilepsy \| 2 C1393529 \| vascular complications \| 2 C0152025 \| polyneuropathy \| 1 C0021845 \| bowel perforation \| 1 C0679401 \| vascular rupture \| 1 C0267373 \| intestinal bleeding \| 1 C0029408 \| osteoarthritis \| 1 C0018944 \| hematoma \| 1 C0021845 \| intestinal perforation \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912932	10602121	1289	COL5A1	umls:C0013720	BeFree	Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?	0.015501981	2000	COL5A1;LOC101448202	9	134820135	G	A
rs28937869	16583246	11285	B4GALT7	umls:C0013720	BeFree	Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).	0.007891677	2006	B4GALT7	5	177608994	C	T
rs61735045	11992482	1289	COL5A1	umls:C0013720	BeFree	Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.	0.015501981	2002	COL5A1	9	134750808	G	A
rs61735045	10602121	1289	COL5A1	umls:C0013720	BeFree	Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?	0.015501981	2000	COL5A1	9	134750808	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	164
Disease	ehlers danlos syndrome
Case	(Waiting for update.)

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