PedAM

Pediatric Disease Annotations & Medicines


	klippel-trenaunay-weber syndrome

Disease ID	808
Disease	klippel-trenaunay-weber syndrome
Definition	A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.
Synonym	angio osteohypertrophy syndrome angio-osteohypertrophy syndrome angio-osteohypertrophy syndromes angioosteohypertrophic syndrome angioosteohypertrophy syndrome angioosteohypertrophy syndromes angiopathies, congenital dysplastic angiopathy, congenital dysplastic cerebrofacial angiomatosis congenital dysplastic angiopathies congenital dysplastic angiopathy disease, klippel-trenaunay dysplastic angiopathies, congenital dysplastic angiopathy, congenital haemangiectatic hypertrophy hemangiectatic hypertrophy klippel syndrome trenaunay weber klippel trenaunay dis klippel trenaunay disease klippel trenaunay syndrome klippel trenaunay syndrome (disorder) klippel trenaunay weber syndrome klippel trÃ©naunay weber syndrome klippel weber trenaunay syndrome klippel-trenaunay disease klippel-trenaunay syndrome klippel-trenaunay syndromes klippel-trenaunay-weber syndrome (disorder) klippel-trenaunay-weber syndrome [disease/finding] klippel-trÃ©naunay-weber syndrome kts ktw syndrome ktw syndromes parkes weber syndrome syndrome klippel-trenaunay-weber syndrome webers syndrome, angio-osteohypertrophy syndrome, angioosteohypertrophy syndrome, klippel trenaunay syndrome, klippel-trenaunay syndrome, klippel-trenaunay-weber syndrome, klippel-trÃ©naunay-weber syndrome, ktw syndromes, angio-osteohypertrophy syndromes, angioosteohypertrophy syndromes, klippel-trenaunay syndromes, ktw weber syndrome webers syndrome
Orphanet	ORPHANET:90307 ORPHANET:2346
OMIM	OMIM:149000 OMIM:608355
DOID	DOID:2926
UMLS	C0022739
MeSH	D007715
SNOMED-CT	SNOMEDCT_US_2016_09_01:59078009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0017601 \| glaucoma \| 9 C0235752 \| port-wine stain \| 8 C0018916 \| hemangioma \| 8 C0003857 \| arteriovenous malformation \| 4 C0014544 \| epilepsy \| 3 C0020581 \| hyphema \| 2 C0149931 \| migraine \| 2 C0020542 \| pulmonary hypertension \| 1 C0014038 \| encephalitis \| 1 C1263846 \| attention deficit hyperactivity disorder \| 1 C0020635 \| hypopituitarism \| 1 C1621958 \| glioblastoma multiforme \| 1 C0022679 \| cystic kidney \| 1 C0018916 \| hemangiomas \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0022739 \| klippel-trenaunay-weber syndrome \| 1 C0022283 \| hypomelanosis of ito \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0027726 \| nephrotic syndrome \| 1 C0376480 \| gingival enlargement \| 1 C0003081 \| anisometropia \| 1 C1096063 \| intractable epilepsy \| 1 C0029417 \| osteoblastoma \| 1 C0024236 \| lymphedema \| 1 C0020302 \| congenital glaucoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) RASA1 \| 5921 \| ORPHANET AGGF1 \| 55109 \| CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 55109 \| AGGF1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 2717 \| GLA \| DISEASES 54567 \| DLL4 \| DISEASES 2324 \| FLT4 \| DISEASES 2775 \| GNAO1 \| DISEASES 10133 \| OPTN \| DISEASES 4854 \| NOTCH3 \| DISEASES 10000 \| AKT3 \| DISEASES 5290 \| PIK3CA \| DISEASES 8626 \| TP63 \| DISEASES 100820829 \| MYZAP \| DISEASES 5921 \| RASA1 \| DISEASES 6872 \| TAF1 \| DISEASES 22808 \| MRAS \| DISEASES 1281 \| COL3A1 \| DISEASES 1601 \| DAB2 \| DISEASES 55109 \| AGGF1 \| DISEASES 84289 \| ING5 \| DISEASES 7025 \| NR2F1 \| DISEASES 2303 \| FOXC2 \| DISEASES 4089 \| SMAD4 \| DISEASES 54345 \| SOX18 \| DISEASES 1003 \| CDH5 \| DISEASES 889 \| KRIT1 \| DISEASES 5906 \| RAP1A \| DISEASES 3482 \| IGF2R \| DISEASES 2050 \| EPHB4 \| DISEASES 23607 \| CD2AP \| DISEASES 57165 \| GJC2 \| DISEASES 462 \| SERPINC1 \| DISEASES 8517 \| IKBKG \| DISEASES 11146 \| GLMN \| DISEASES 282991 \| BLOC1S2 \| DISEASES 7075 \| TIE1 \| DISEASES 4855 \| NOTCH4 \| DISEASES 56243 \| KIAA1217 \| DISEASES 2623 \| GATA1 \| DISEASES 7010 \| TEK \| DISEASES 83605 \| CCM2 \| DISEASES 94 \| ACVRL1 \| DISEASES 11235 \| PDCD10 \| DISEASES 7026 \| NR2F2 \| DISEASES 5627 \| PROS1 \| DISEASES 174 \| AFP \| DISEASES 3481 \| IGF2 \| DISEASES 8831 \| SYNGAP1 \| DISEASES 9734 \| HDAC9 \| DISEASES 27164 \| SALL3 \| DISEASES 8742 \| TNFSF12 \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	808
Disease	klippel-trenaunay-weber syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:43) HP:0000501 \| Glaucoma \| 9 HP:0001052 \| port-wine stain \| 8 HP:0001028 \| Strawberry mark \| 8 HP:0007872 \| Choroidal hemangioma \| 6 HP:0012721 \| Venous malformations \| 4 HP:0100026 \| Arteriovenous malformation \| 4 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0006574 \| Liver arteriovenous malformation \| 2 HP:0000212 \| Gingival overgrowth \| 2 HP:0001087 \| Childhood glaucoma \| 2 HP:0003764 \| Naevus \| 2 HP:0001250 \| Seizures \| 2 HP:0002076 \| Migraine headaches \| 2 HP:0011886 \| Hyphema \| 2 HP:0001004 \| Lymphatic obstruction \| 1 HP:0002126 \| Polymicrogyria \| 1 HP:0002315 \| Headaches \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0006548 \| Pulmonary av malformation \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0002664 \| Neoplasia \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0001342 \| Intracerebral hemorrhage \| 1 HP:0012174 \| Glioblastoma multiforme \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0007018 \| Attention deficits \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0011846 \| Osteoblastoma \| 1 HP:0040075 \| Hypopituitarism \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0000421 \| Bloody nose \| 1 HP:0002401 \| Strokelike episodes \| 1 HP:0000329 \| Facial hemangiomata \| 1 HP:0009733 \| Glioma \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0012803 \| Anisometropia \| 1 HP:0002383 \| Encephalitis \| 1 HP:0002170 \| Intracranial hemorrhage \| 1

Disease ID	808
Disease	klippel-trenaunay-weber syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs34203073	14961121	55109	AGGF1	umls:C0022739	UNIPROT	These results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for KTS, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS.	0.366634157	2004	AGGF1	5	77035624	G	A
rs34203073	16443853	55109	AGGF1	umls:C0022739	BeFree	The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS.	0.366634157	2006	AGGF1	5	77035624	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

Web
Analytics