MCID: VCT001
MIFTS: 50

Vacterl Association

Categories: Nephrological diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Vacterl Association

Summaries for Vacterl Association

MedlinePlus Genetics: 42 VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.

MalaCards based summary: Vacterl Association, also known as vater association, is related to vacterl association, x-linked, with or without hydrocephalus and vacterl association with hydrocephaly, x-linked. An important gene associated with Vacterl Association is FANCL (FA Complementation Group L), and among its related pathways/superpathways are Signaling by Hedgehog and Neural Stem Cells and Lineage-specific Markers. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, trachea and heart, and related phenotypes are growth/size/body region and endocrine/exocrine gland

GARD: 19 VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.

Disease Ontology: 11 A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Wikipedia: 75 The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a... more...

Related Diseases for Vacterl Association

Diseases related to Vacterl Association via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 328, show less)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 32.8 ZIC3 TRAP1 FOXF1 FANCL FANCB
2 vacterl association with hydrocephaly, x-linked 32.7 ZIC3 FANCL
3 heart septal defect 30.8 ZIC3 FGF8 CHD7
4 renal hypodysplasia/aplasia 1 30.7 SALL1 FGF8 CHD7
5 duodenal atresia 30.7 ZIC3 SHH MTHFSD FOXF1
6 ventricular septal defect 30.6 ZIC3 FOXF1 FGF8 CHD7
7 atrial heart septal defect 30.6 ZIC3 SHH FOXF1 CHD7
8 hypospadias 30.4 SHH HOXD13 FGF8
9 diaphragmatic hernia, congenital 30.4 SHH GLI3 FOXF1
10 esophageal atresia 30.3 ZIC3 SHH MTHFSD HOXD13 GLI3 GLI2
11 vesicoureteral reflux 30.3 ZIC3 SALL1 FGF8
12 patent ductus arteriosus 1 30.3 ZIC3 FOXF1 CHD7
13 tetralogy of fallot 30.2 ZIC3 SHH FOXF1 FGF8 CHD7
14 pancreas, annular 30.1 ZIC3 SHH MTHFSD FOXL1 FOXF1
15 polydactyly 30.1 SHH HOXD13 GLI3 GLI2 GLI1
16 cryptorchidism, unilateral or bilateral 30.1 SHH GLI3 FGF8 CHD7
17 atrioventricular septal defect 30.1 ZIC3 SHH CHD7
18 feingold syndrome 1 30.0 SHH MTHFSD GLI3 FOXF1 CHD7
19 choanal atresia, posterior 29.9 SHH FGF8 CHD7
20 hypoplastic left heart syndrome 29.9 ZIC3 FOXL1 FOXF1 CHD7
21 charge syndrome 29.8 ZIC3 GLI3 FGF8 CHD7
22 neural tube defects 29.8 ZIC3 SHH MNX1 GLI3 FGF8
23 synostosis 29.8 SHH HOXD13 GLI3 FGF8
24 omphalocele 29.7 SHH MNX1 FOXF1
25 tracheomalacia 29.7 SHH FOXF1
26 townes-brocks syndrome 29.7 SHH SALL1 HOXD13 GLI3 FGF8 CHD7
27 sacral defect with anterior meningocele 29.5 SHH PCSK5 MNX1 HOXD13 FGF8
28 currarino syndrome 29.5 SHH PCSK5 MNX1 HOXD13
29 microphthalmia, syndromic 3 29.3 SHH MTHFSD GLI3 FOXL1 FOXF1 FANCB
30 craniosynostosis 29.2 SHH GLI3 GLI2 GLI1 FGF8
31 anus, imperforate 29.1 ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
32 cleft palate, isolated 29.1 ZIC3 SHH GLI3 GLI2 GLI1 FGF8
33 holoprosencephaly 29.0 SHH MNX1 GLI3 GLI2 GLI1 FGF8
34 chromosome 2q35 duplication syndrome 28.9 SHH SALL1 HOXD13 GLI3 GLI2 GLI1
35 pallister-hall syndrome 28.3 ZIC3 SHH SALL1 MTHFSD HOXD13 GLI3
36 vater/vacterl association 11.8
37 vacterl association with hydrocephalus 11.5
38 vacterl hydrocephaly 11.4
39 fanconi anemia, complementation group a 11.2
40 vacterl with hydrocephalus 11.1
41 familial caudal dysgenesis 11.1
42 spondylocostal dysostosis 1, autosomal recessive 10.6
43 scoliosis 10.3
44 renal dysplasia 10.3
45 fanconi anemia, complementation group v 10.3 FANCL FANCB
46 deficiency anemia 10.3
47 esophageal atresia/tracheoesophageal fistula 10.2
48 fanconi anemia, complementation group o 10.2 FANCL FANCB
49 tibia, hypoplasia or aplasia of, with polydactyly 10.2 SHH HOXD13 GLI3
50 holoprosencephaly 1 10.2 SHH FGF8
51 laurin-sandrow syndrome 10.2 SHH HOXD13 GLI3
52 large cell medulloblastoma 10.2 SHH GLI2
53 synpolydactyly 10.2 SHH HOXD13 GLI3
54 holoprosencephaly 11 10.2 SHH GLI2
55 tracheoesophageal fistula with or without esophageal atresia 10.1
56 dextrocardia 10.1
57 sirenomelia 10.1
58 renal agenesis, bilateral 10.1
59 atresia of urethra 10.1
60 adult medulloblastoma 10.1 SHH GLI2
61 normosmic congenital hypogonadotropic hypogonadism 10.1 FGF8 CHD7
62 holoprosencephaly 4 10.1 SHH FGF8
63 holoprosencephaly 9 10.1 SHH GLI3 GLI2
64 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.1 SHH GLI3
65 micronodular basal cell carcinoma 10.1 SHH GLI2
66 cerebellar medulloblastoma 10.1 SHH GLI1
67 culler-jones syndrome 10.1 SHH GLI3 GLI2
68 branchiooculofacial syndrome 10.1 SALL1 FGF8 CHD7
69 trachea leiomyoma 10.1 SHH GLI1
70 prune belly syndrome 10.1
71 craniofacial microsomia 10.1
72 polydactyly, preaxial i 10.1
73 hydrocephalus, congenital, 1 10.1
74 fanconi anemia, complementation group b 10.1
75 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.1
76 meningocele 10.1
77 hydrocephalus 10.1
78 clubfoot 10.1
79 oligohydramnios 10.1
80 end stage renal disease 10.1
81 congenital tracheal stenosis 10.1
82 interatrial communication 10.1
83 amelia 10.1
84 midline interhemispheric variant of holoprosencephaly 10.1 SHH GLI2 FGF8
85 septopreoptic holoprosencephaly 10.1 SHH GLI2 FGF8
86 alobar holoprosencephaly 10.1 SHH GLI2 FGF8
87 lobar holoprosencephaly 10.1 SHH GLI2 FGF8
88 microform holoprosencephaly 10.1 SHH GLI2 FGF8
89 saethre-chotzen syndrome 10.1 SHH GLI3 FGF8
90 semilobar holoprosencephaly 10.1 SHH GLI2 FGF8
91 patau syndrome 10.0 ZIC3 SHH GLI2 CHD7
92 double outlet right ventricle 10.0 ZIC3 SHH FGF8 CHD7
93 syndactyly, type iv 10.0 SHH HOXD13 GLI3 FGF8
94 joubert syndrome 8 10.0 SHH GLI2
95 cloacal exstrophy 10.0 SHH MNX1
96 bone development disease 10.0 SHH HOXD13 GLI3 FGF8
97 acrocapitofemoral dysplasia 10.0 SHH GLI3 GLI1
98 chromosomal duplication syndrome 10.0 SHH HOXD13 GLI3 FGF8
99 rasopathy 10.0 ZIC3 SHH FGF8 CHD7
100 dysostosis 10.0 SHH HOXD13 GLI3 FGF8
101 cerebellum cancer 10.0 SHH GLI1
102 acrocallosal syndrome 10.0 SHH GLI3 GLI1
103 total anomalous pulmonary venous return 1 10.0
104 lipomatosis, multiple 10.0
105 down syndrome 10.0
106 mitochondrial complex iv deficiency, nuclear type 1 10.0
107 alveolar capillary dysplasia with misalignment of pulmonary veins 10.0
108 renal, genital, and middle ear anomalies 10.0
109 mayer-rokitansky-kuster-hauser syndrome 10.0
110 radial ray deficiency, x-linked 10.0
111 neural tube defects, folate-sensitive 10.0
112 renal hypodysplasia/aplasia 3 10.0
113 pain agnosia 10.0
114 cakut 10.0
115 tethered spinal cord syndrome 10.0
116 laryngostenosis 10.0
117 potter's syndrome 10.0
118 enterocele 10.0
119 urinary tract obstruction 10.0
120 situs inversus 10.0
121 hemometra 10.0
122 dextrocardia with situs inversus 10.0
123 vaginal atresia 10.0
124 radial hemimelia 10.0
125 desmoplastic nodular medulloblastoma 10.0 SHH GLI2 GLI1
126 coloboma of macula 10.0 SHH SALL1 FGF8 CHD7
127 persistent hyperplastic primary vitreous 10.0
128 sympathetic ophthalmia 10.0
129 primary angle-closure glaucoma 10.0
130 iritis 10.0
131 anterior uveitis 10.0
132 conjunctivitis 10.0
133 cleft lip 10.0
134 spondylarthropathy 10.0
135 childhood medulloblastoma 10.0 SHH GLI2 GLI1
136 tooth agenesis 10.0 SHH GLI3 FGF8 CHD7
137 septooptic dysplasia 10.0 SHH GLI2 FGF8 CHD7
138 brachydactyly, type a1 9.9 SHH HOXD13 GLI3 GLI1
139 atypical teratoid rhabdoid tumor 9.9 SHH GLI2 GLI1
140 meckel syndrome, type 1 9.9 ZIC3 SHH GLI3 GLI1
141 acheiropody 9.9 SHH MNX1
142 chromosomal disease 9.9 SHH HOXD13 FGF8
143 apert syndrome 9.9 SHH GLI3 GLI1 FGF8
144 joubert syndrome 32 9.9 SHH GLI3 GLI2 GLI1
145 focal dermal hypoplasia 9.9 SHH GLI3 GLI2 GLI1
146 anorectal anomalies 9.8
147 coarctation of aorta 9.8
148 duane retraction syndrome 1 9.8
149 fibromuscular dysplasia, arterial 9.8
150 hernia, hiatus 9.8
151 holt-oram syndrome 9.8
152 attention deficit-hyperactivity disorder 9.8
153 keratitis, hereditary 9.8
154 macular degeneration, age-related, 2 9.8
155 meckel diverticulum 9.8
156 papillomatosis, confluent and reticulated 9.8
157 polycystic kidney disease 1 with or without polycystic liver disease 9.8
158 polycystic liver disease 1 with or without kidney cysts 9.8
159 split-hand/foot malformation 1 9.8
160 strabismus 9.8
161 arachnoid cysts, intracranial 9.8
162 williams-campbell syndrome 9.8
163 conotruncal heart malformations 9.8
164 baller-gerold syndrome 9.8
165 type 1 diabetes mellitus 9.8
166 gastroschisis 9.8
167 miller-dieker lissencephaly syndrome 9.8
168 3-methylglutaconic aciduria, type i 9.8
169 moyamoya disease 1 9.8
170 biotinidase deficiency 9.8
171 sjogren-larsson syndrome 9.8
172 teeth, fused 9.8
173 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
174 cyclic vomiting syndrome 9.8
175 diabetes and deafness, maternally inherited 9.8
176 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8
177 fryns microphthalmia syndrome 9.8
178 gallbladder disease 1 9.8
179 preaxial hallucal polydactyly 9.8
180 anal atresia, hypospadias, and penoscrotal inversion 9.8
181 macular degeneration, age-related, 1 9.8
182 lissencephaly 1 9.8
183 chromosome 22q11.2 duplication syndrome 9.8
184 major depressive disorder 9.8
185 transposition of the great arteries, dextro-looped 9.8
186 fanconi anemia, complementation group i 9.8
187 aplastic anemia 9.8
188 chromosome 13q14 deletion syndrome 9.8
189 fanconi anemia, complementation group l 9.8
190 aortic valve disease 2 9.8
191 immunodeficiency, common variable, 10 9.8
192 lower urinary tract obstruction, congenital 9.8
193 lissencephaly 9.8
194 visceral heterotaxy 9.8
195 distal arthrogryposis 9.8
196 pontocerebellar hypoplasia 9.8
197 myelomeningocele 9.8
198 ectopic pregnancy 9.8
199 spina bifida occulta 9.8
200 split hand-foot malformation 9.8
201 spermatogenic failure 9.8
202 sensorineural hearing loss 9.8
203 cholelithiasis 9.8
204 amblyopia 9.8
205 microphthalmia 9.8
206 microcephaly 9.8
207 hydronephrosis 9.8
208 anisometropia 9.8
209 pancytopenia 9.8
210 bell's palsy 9.8
211 duane retraction syndrome 9.8
212 subclavian steal syndrome 9.8
213 patent foramen ovale 9.8
214 amenorrhea 9.8
215 olivopontocerebellar atrophy 9.8
216 renovascular hypertension 9.8
217 vascular disease 9.8
218 constipation 9.8
219 gastroenteritis 9.8
220 central nervous system origin vertigo 9.8
221 endometriosis 9.8
222 teratoma 9.8
223 turner syndrome 9.8
224 duodenal obstruction 9.8
225 kidney disease 9.8
226 hereditary breast ovarian cancer syndrome 9.8
227 chronic kidney disease 9.8
228 polyhydramnios 9.8
229 crohn's disease 9.8
230 hypoglycemia 9.8
231 aberrant subclavian artery 9.8
232 aortopulmonary window 9.8
233 children's interstitial lung disease 9.8
234 chromosomal triplication 9.8
235 fibromuscular dysplasia 9.8
236 inherited bone marrow failure syndromes 9.8
237 isochromosome yp 9.8
238 lymphangiectasis 9.8
239 penoscrotal transposition 9.8
240 pulmonary sequestration 9.8
241 sacrococcygeal teratoma 9.8
242 talipes equinovarus 9.8
243 urachal cyst 9.8
244 hypotonia 9.8
245 multicystic dysplastic kidney 9.8
246 unilateral aplasia of the mullerian ducts 9.8
247 bicornuate uterus 9.8
248 congenital microgastria 9.8
249 hemimelia 9.8
250 isolated split hand-split foot malformation 9.8
251 congenital aortopulmonary window 9.8
252 amelia of upper limb 9.8
253 patent urachus 9.8
254 fetal lower urinary tract obstruction 9.8
255 mitochondrial disease 9.8
256 esophageal malformation 9.8
257 pigmentation anomaly of the skin 9.8
258 dysphagia lusoria 9.8
259 abnormal origin of right or left pulmonary artery from the aorta 9.8
260 twin-reversed arterial perfusion sequence 9.8
261 basal cell nevus syndrome 9.8 SHH GLI3 GLI2 GLI1
262 infratentorial cancer 9.8 SHH GLI3 GLI2 GLI1
263 ellis-van creveld syndrome 9.8 SHH GLI3 GLI2 GLI1
264 spondyloarthropathy 1 9.8
265 gastroesophageal reflux 9.8
266 congenital anomalies of kidney and urinary tract 2 9.8
267 teebi hypertelorism syndrome 1 9.8
268 motion sickness 9.8
269 cowden syndrome 1 9.8
270 nephrolithiasis, calcium oxalate 9.8
271 proteus syndrome 9.8
272 ruvalcaba syndrome 9.8
273 sprengel deformity 9.8
274 torticollis 9.8
275 wilms tumor 1 9.8
276 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
277 fryns syndrome 9.8
278 3-hydroxy-3-methylglutaryl-coa lyase deficiency 9.8
279 pulmonary hypoplasia, primary 9.8
280 opitz gbbb syndrome 9.8
281 coats disease 9.8
282 wilms tumor 5 9.8
283 psoriatic arthritis 9.8
284 caudal duplication anomaly 9.8
285 chromosome 22q11.2 deletion syndrome, distal 9.8
286 ventricular septal defect 1 9.8
287 ptosis 9.8
288 congenital ptosis 9.8
289 inguinal hernia 9.8
290 bladder exstrophy-epispadias-cloacal exstrophy complex 9.8
291 bladder exstrophy 9.8
292 benign teratoma 9.8
293 urolithiasis 9.8
294 ampulla of vater cancer 9.8
295 megacolon 9.8
296 atrophy of testis 9.8
297 prostatitis 9.8
298 lipomatosis 9.8
299 botryoid rhabdomyosarcoma 9.8
300 dermoid cyst of ovary 9.8
301 infertility 9.8
302 cowden syndrome 9.8
303 radioulnar synostosis 9.8
304 bap1 tumor predisposition syndrome 9.8
305 congenital torticollis 9.8
306 diphallia 9.8
307 duplication of urethra 9.8
308 back pain 9.8
309 inherited cancer-predisposing syndrome 9.8
310 autosomal recessive sideroblastic anemia 9.8
311 ring chromosome 9.8
312 isolated tracheoesophageal fistula 9.8
313 anterior urethral valve 9.8
314 overgrowth syndrome 9.8
315 asphyxiating thoracic dystrophy 9.8 SHH GLI3 GLI2 GLI1
316 holoprosencephaly 3 9.8 SHH MNX1 GLI3 GLI2
317 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
318 pathologic nystagmus 9.8
319 congenital achiasma 9.8
320 skin carcinoma 9.8 SHH GLI3 GLI2 GLI1
321 physical disorder 9.8 SHH GLI3 FGF8 FANCL FANCB CHD7
322 solitary median maxillary central incisor 9.8 SHH MNX1 GLI2 FGF8
323 basal cell carcinoma 9.7 SHH GLI3 GLI2 GLI1
324 rectal disease 9.7 ZIC3 SHH SALL1 MNX1 GLI3 FOXF1
325 greig cephalopolysyndactyly syndrome 9.6 SHH HOXD13 GLI3 GLI2 GLI1 FGF8
326 anus disease 9.5 ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
327 orofacial cleft 9.5 SHH GLI3 GLI2 GLI1 FGF8 FANCL
328 congenital nervous system abnormality 8.8 ZIC3 SHH RBM8A MNX1 GLI3 GLI2

Graphical network of the top 20 diseases related to Vacterl Association:



Diseases related to Vacterl Association

Symptoms & Phenotypes for Vacterl Association

MGI Mouse Phenotypes related to Vacterl Association:

45 (showing 15, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 CHD7 FAM170A FANCB FANCL FGF8 FOXF1
2 endocrine/exocrine gland MP:0005379 10.38 CDH13 CHD7 FAM170A FANCB FANCL FGF8
3 cellular MP:0005384 10.3 CHD7 FAM170A FANCB FANCL FGF8 FOXF1
4 nervous system MP:0003631 10.28 CHD7 FGF8 GLI1 GLI2 GLI3 MNX1
5 digestive/alimentary MP:0005381 10.25 CHD7 FGF8 FOXF1 FOXL1 GLI1 GLI2
6 embryo MP:0005380 10.23 CHD7 FANCL FGF8 FOXF1 GLI1 GLI2
7 limbs/digits/tail MP:0005371 10.22 CHD7 FGF8 GLI1 GLI2 GLI3 HOXD13
8 normal MP:0002873 10.15 FGF8 GLI1 GLI2 GLI3 MNX1 SALL1
9 hearing/vestibular/ear MP:0005377 10.05 CHD7 FGF8 GLI2 GLI3 SALL1 SHH
10 reproductive system MP:0005389 10.03 CDH13 CHD7 FAM170A FANCB FANCL FGF8
11 respiratory system MP:0005388 10.02 CHD7 FGF8 FOXF1 GLI1 GLI2 GLI3
12 craniofacial MP:0005382 10.01 CHD7 FGF8 GLI1 GLI2 GLI3 PCSK5
13 skeleton MP:0005390 9.97 CDH13 CHD7 FANCL FGF8 GLI1 GLI2
14 vision/eye MP:0005391 9.61 CDH13 CHD7 FGF8 GLI2 GLI3 HOXD13
15 mortality/aging MP:0010768 9.5 CDH13 CHD7 FANCL FGF8 FOXF1 FOXL1

Drugs & Therapeutics for Vacterl Association

Drugs for Vacterl Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 4, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
3 Nicotinic Acids
4 Vitamin B3

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of VACTERL Association Completed NCT00766571
2 Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations Recruiting NCT03799705

Search NIH Clinical Center for Vacterl Association

Cochrane evidence based reviews: vater association

Genetic Tests for Vacterl Association

Genetic tests related to Vacterl Association:

# Genetic test Affiliating Genes
1 Vacterl Association 28
2 Vater Association 28

Anatomical Context for Vacterl Association

Organs/tissues related to Vacterl Association:

MalaCards : Kidney, Trachea, Heart, Spinal Cord, Pancreas, Lung, Uterus

Publications for Vacterl Association

Articles related to Vacterl Association:

(showing 614, show less)
# Title Authors PMID Year
1
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 62 5
25754594 2015
2
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 5
2629409 1989
3
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. 62
35484986 2022
4
In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases. 62
36212569 2022
5
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. 62
35491967 2022
6
Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A pediatric colorectal and pelvic learning consortium study. 62
35879143 2022
7
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. 62
35362267 2022
8
Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. 62
35813671 2022
9
Is horseshoe lung a component of VACTERL spectrum? Case report and review of literature. 62
35282320 2022
10
Birth defect co-occurrence patterns in the Texas Birth Defects Registry. 62
34193968 2022
11
Congenital musculoskeletal anomalies - key radiographic findings. 62
34731287 2022
12
Prenatal diagnosis of VACTERL association in the first trimester. 62
35037266 2022
13
Long-term urology outcomes of anorectal malformation. 62
35283020 2022
14
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. 62
35277952 2022
15
Prenatal Diagnosis and Outcome of Scimitar Syndrome: A Case Series of Six Patients. 62
35330021 2022
16
Genetic Evidence for Congenital Vascular Disorders in Patients with VACTERL Association. 62
34823266 2022
17
Right Pulmonary Artery Originating from Ascending Aorta (Hemitruncus Arteriosus) with VACTERL Association in a Neonate: A Case Report. 62
35204915 2022
18
Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot. 62
35060156 2022
19
Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register. 62
34343375 2022
20
Terminal myelocystocele: Surgical management. 62
35855164 2022
21
Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study. 62
35622841 2022
22
A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn. 62
35186552 2022
23
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. 62
34338422 2021
24
Primary repair of esophageal atresia is followed by multiple diagnostic and surgical procedures. 62
34229878 2021
25
Quality of Life Outcomes in Primary Caregivers of Children with Esophageal Atresia. 62
34329689 2021
26
VACTERL association in a fetus with multiple congenital malformations - Case report. 62
35126759 2021
27
Anal atresia as the diagnostic clue in VACTERL association: A first-trimester case report. 62
34365700 2021
28
Post-herniorrhaphy extubation technique in pediatric patient with congenital diaphragmatic hernia and VACTERL association: A case report. 62
34540207 2021
29
Fifty years of recognizable patterns of human malformation: Insights and opportunities. 62
33951288 2021
30
Surgical Management of an Obstructive Müllerian Anomaly in a Patient with Anorectal Malformation. 62
34414074 2021
31
Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes. 62
34118793 2021
32
VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome. 62
34321798 2021
33
Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. 62
33616304 2021
34
Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. 62
33522143 2021
35
Triple Atresia, Triple Threat? An Unusual Constellation of Primary Surgical Abnormalities. 62
33921220 2021
36
Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. 62
33805876 2021
37
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 62
33678342 2021
38
The Classification of VACTERL Association into 3 Groups According to the Limb Defect. 62
33680640 2021
39
Successful thoracoscopic treatment for tracheoesophageal fistula and esophageal atresia of communicating bronchopulmonary foregut malformation group IB with dextrocardia: a case report of VACTERL association. 62
33409676 2021
40
Assisted Reproductive Technology and Anorectal Malformation: A Single-Center Experience. 62
34604138 2021
41
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. 62
33466296 2021
42
Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study. 62
32886957 2020
43
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 62
33276377 2020
44
Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. 62
33505230 2020
45
Maternal risk associated with the VACTERL association: A case-control study. 62
33179873 2020
46
[Morbidity of congenital heart disease in children with anorectal malformations and related treatment]. 62
33210486 2020
47
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. 62
32359821 2020
48
Tethered Cord Syndrome in the United States Cluster Analysis of Presenting Anomalies and Associated. 62
32857021 2020
49
Adolescent With VACTERL Association Presents With Recurrent Pneumonia. 62
33062488 2020
50
Management of Tracheoesophageal Fistula Repair With Cardiac Dextroposition and Right Lung Agenesis: A Case Report. 62
32633924 2020
51
Five-year experience of anorectal malformation with oesophageal atresia in tertiary care hospital. 62
33342833 2020
52
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 62
32382369 2020
53
Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S. 62
32055959 2020
54
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. 62
32250545 2020
55
Nationwide analysis of mortality and hospital readmissions in esophageal atresia. 62
32061361 2020
56
Maternal risk factors for the VACTERL association: A EUROCAT case-control study. 62
32319733 2020
57
Children and adolescents with VACTERL association: health-related quality of life and psychological well-being in children and adolescents and their parents. 62
31741214 2020
58
Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia. 62
31952847 2020
59
Attention difficulties and physical dysfunction common in children with complex congenital malformations: a study of preschool children with VACTERL association. 62
30187514 2020
60
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. 62
31720744 2020
61
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. 62
32656166 2020
62
Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula. 62
31436871 2019
63
[Foreign body ingestion in children]. 62
31750640 2019
64
VACTERL Association in a Female Pig (Sus scrofa domesticus). 62
31812176 2019
65
VACTERL association complicated with multiple airway abnormalities: A case report. 62
31626096 2019
66
Linear IgA Bullous Dermatosis: A Series of 17 Cases. 62
31014539 2019
67
The DATE Association: A Separate Entity or a Further Extension of the VACTERL Association? 62
31022678 2019
68
Crohn's disease in a girl with VACTERL association: Can mitochondrial dysfunction coexist? 62
30455041 2019
69
Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses. 62
31049649 2019
70
Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia. 62
31455287 2019
71
The VACTERL association: mosaic mitotic aneuploidy as a cause and a model. 62
31129863 2019
72
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. 62
30503021 2019
73
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. 62
30887706 2019
74
Neonatal factors predictive for respiratory and gastro-intestinal morbidity after esophageal atresia repair. 62
30146459 2019
75
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. 62
29635651 2019
76
Unicornuate uterus with a rudimentary non-communicating cavitary horn in association with VACTERL association: case report. 62
31146728 2019
77
Oesophageal atresia. 62
31000707 2019
78
Urethral duplication in a child with VATER association. 62
30534525 2019
79
Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association. 62
30597716 2019
80
VACTERL Association with Situs Inversus Totalis: A Unique Combination. 62
31470372 2019
81
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice. 62
30380057 2019
82
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. 62
30261518 2019
83
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 62
31315107 2019
84
From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association - A complex congenital malformation. 62
31002700 2019
85
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 62
31341693 2019
86
The etiology of VACTERL association: Current knowledge and hypotheses. 62
30580478 2018
87
Congenital Great Toe Hypoplasia Equivalent to a Grade 3 Hypoplastic Thumb in a Patient with VACTERL Association. 62
30428812 2018
88
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report. 62
30407282 2018
89
Factors Associated with Recurrence of Tracheoesophageal Fistula. 62
30430797 2018
90
VACTERL association - Ultrasound findings and autopsy correlation. 62
30662209 2018
91
A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome. 62
30278516 2018
92
Phenotypic diversity of patients diagnosed with VACTERL association. 62
30152190 2018
93
Sirenomelia with VACTERL association-a rare anomaly. 62
29031871 2018
94
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. 62
29261186 2018
95
A pulmonary artery sling with a vascular ring in a toddler: an uncommon combination. 62
29490714 2018
96
Congenital achiasma and see-saw nystagmus in VATER syndrome association with hydrocephalus. 62
29483009 2018
97
A vascular anomaly of the iliac artery in a patient with VATER association. 62
29636942 2018
98
[Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery]. 62
28081906 2018
99
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. 62
29373345 2018
100
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. 62
29373986 2018
101
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. 62
29131674 2018
102
Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia. 62
28672091 2017
103
Severe unicuspid aortic valve stenosis: VACTERL association. 62
28942414 2017
104
13 ribs as a predictor of long gap esophageal atresia: myth or reality? Analysis of associated findings of esophageal atresia and abnormal rib count. 62
28545763 2017
105
Müllerian anomaly in a woman with Hirschsprung's disease. 62
28784882 2017
106
Associated anomalies in cases with esophageal atresia. 62
28577344 2017
107
Genetic Testing in a Cohort of Complex Esophageal Atresia. 62
28878607 2017
108
A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant. 62
29062381 2017
109
Improving the rigour of VACTERL screening for neonates with anorectal malformations. 62
28516189 2017
110
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. 62
28605140 2017
111
Aberrant Right Subclavian Artery-Esophageal Fistula in 20-Year-Old with VATER Association. 62
31073436 2017
112
Pcsk5 is required in the early cranio-cardiac mesoderm for heart development. 62
28446132 2017
113
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. 62
28403078 2017
114
Ectopic Scrotum with VACTERL Association. 62
28770133 2017
115
Correlation between Quality of Life and Functional Outcomes in Operated Children with Anorectal Malformations Using the Krickenbeck Consensus. 62
27928719 2017
116
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. 62
28265405 2017
117
Computed tomography and upper gastrointestinal series findings of esophageal bronchi in infants. 62
27785539 2017
118
Bilateral cochlear nerve absence in a 3 year old child with VACTERL association. 62
28109502 2017
119
Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. 62
27756070 2017
120
Vestibular Derangement and Motion Intolerance in VATER Association. 62
28611930 2017
121
[Possible Relation Between Antenatal Venlafaxine Use and VACTERL Association in a Newborn: A Case Report]. 62
28291300 2017
122
Embryonic hypocellularity, blastogenetic malformations, and fetal growth restriction. 62
27717162 2017
123
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. 62
26857713 2016
124
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. 62
27061706 2016
125
VACTERL Association with Sacrococcygeal Teratoma. 62
27567656 2016
126
Anorectal malformations associated spinal cord anomalies. 62
27372296 2016
127
VACTERL Association Complicated with Right-sided Congenital Diaphragmatic Hernia. 62
24368291 2016
128
Outcome in anorectal malformation type rectovesical fistula: a nationwide cohort study in The Netherlands. 62
26921937 2016
129
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. 62
27084730 2016
130
Moyamoya Disease in a Patient with VACTERL Association. 62
26844876 2016
131
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted. 62
26498647 2016
132
Tracheal agenesis, a frightening scenario. 62
26740311 2016
133
Sacral nerve stimulation for faecal incontinence due to imperforate anus in VATER/VACTERL association. 62
26072132 2016
134
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. 62
26929876 2016
135
Novel FANCI mutations in Fanconi anemia with VACTERL association. 62
26590883 2016
136
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. 62
26881326 2016
137
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. 62
29485824 2016
138
Dermal Abrasion Experienced as an Adverse Effect of the EZ-IO(®). 62
26603361 2016
139
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. 62
26294094 2015
140
The VACTERL Association as a disturbance of cell fate determination. 62
26174174 2015
141
Is VACTERL a laterality defect? 62
26171769 2015
142
Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications. 62
26198446 2015
143
Prenatal diagnosis of the VACTERL association using routine ultrasound examination. 62
26033534 2015
144
VACTERL association in anorectal malformation: effect on the outcome. 62
26143411 2015
145
Furcate Umbilical Cord Insertion: Disparate Outcomes of a Rare Obstetrical Finding. A Case Report. 62
26380499 2015
146
Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse. 62
25775927 2015
147
Kidney transplantation in an adult patient with VACTERL association. 62
26106170 2015
148
PCSK5 mutation in a patient with the VACTERL association. 62
26055999 2015
149
Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge. 62
26034325 2015
150
A patient with VACTERL association for caesarean delivery. 62
26019364 2015
151
Fetal hemivertebra: associations and perinatal outcome. 62
24789522 2015
152
Scimitar syndrome in a case with VACTERL association. 62
24905790 2015
153
Associated noncardiac congenital anomalies among cases with congenital heart defects. 62
25497206 2015
154
UHL'S ANOMALY AS A PART OF VACTERL ASSOCIATION. 62
26349203 2015
155
Absent upper blind Pouch in a case of tracheo-esophageal fistula. 62
25552830 2015
156
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. 62
25988067 2015
157
Urinary reconstruction in vertebral, anorectal, cardiac, trachea-esophageal, renal abnormalities and limb defects association with chronic renal failure and penile duplication. 62
25115674 2015
158
Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association. 62
25008186 2015
159
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation. 62
23933666 2014
160
Analysis of renal anomalies in VACTERL association. 62
25196458 2014
161
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. 62
25131394 2014
162
Structural and numerical changes of chromosome X in patients with esophageal atresia. 62
24398799 2014
163
Monochorionic-monoamniotic twins discordant for VATER association. 62
25073497 2014
164
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. 62
24668915 2014
165
[Carpal tunnel syndrome in children. About 10 clinical cases]. 62
24418261 2014
166
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. 62
24152966 2014
167
Recessive mutations in CAKUT and VACTERL association. 62
24875543 2014
168
Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition? 62
24648351 2014
169
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement. 62
24210691 2014
170
Adolescent urethral coitus: 2 cases and review of the literature. 62
23953494 2014
171
Pregnancy outcome following gestational exposure to TNF-alpha-inhibitors: a prospective, comparative, observational study. 62
24284028 2014
172
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. 62
24416387 2014
173
An aberrant subclavian artery exhibiting the partial steal phenomenon in a patient with VACTERL association. 62
25130125 2014
174
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. 62
24239950 2014
175
A case of VACTERL and non-VACTERL association without the "V and L". 62
24591785 2014
176
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. 62
25059024 2014
177
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. 62
23549274 2013
178
VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. 62
24411047 2013
179
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. 62
23775592 2013
180
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. 62
24307608 2013
181
Analysis of cardiac anomalies in VACTERL association. 62
24343877 2013
182
Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. 62
23450279 2013
183
VACTERL association with double-chambered left ventricle: A rare occurrence. 62
24688248 2013
184
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype? 62
23842449 2013
185
Anesthetic management of a parturient with VACTERL association undergoing Cesarean delivery. 62
23519725 2013
186
Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection. 62
23751045 2013
187
Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association. 62
23728126 2013
188
[Renal and ureteral stones in V.A.C.T.E.R.L. association: endourological management]. 62
23341199 2013
189
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? 62
22643051 2013
190
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. 62
23526679 2013
191
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. 62
23653573 2013
192
Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. 62
23322606 2013
193
Sonic Hedgehog Signaling and VACTERL Association. 62
23653575 2013
194
Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. 62
23653577 2013
195
VACTERL-H Association and Fanconi Anemia. 62
23653579 2013
196
Considering the Embryopathogenesis of VACTERL Association. 62
23653571 2013
197
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. 62
23653574 2013
198
VATER/VACTERL Association: Evidence for the Role of Genetic Factors. 62
23653572 2013
199
Adriamycin-Induced Models of VACTERL Association. 62
23653576 2013
200
First Trimester Diagnosis of VACTERL Association. 62
24765498 2013
201
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression. 62
23437000 2013
202
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome. 62
24341150 2013
203
Associated malformations among infants with radial ray deficiency. 62
24032294 2013
204
Is Duane retraction syndrome part of the VACTERL association? 62
23658476 2013
205
Oculoauriculovertebral spectrum with radial anomaly in child. 62
24479055 2013
206
Novel association of VACTERL, neural tube defect and crossed renal ectopia: sonic hedgehog signaling: a point of coherence? 62
23181497 2012
207
Functional independence of Taiwanese children with VACTERL association. 62
23165933 2012
208
Clinical geneticists' views of VACTERL/VATER association. 62
23165726 2012
209
A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: expanding the V in VACTERL association. 62
23023878 2012
210
Agenesis of the internal carotid artery: associated malformations including a high rate of aortic and cardiac malformations. 62
22847749 2012
211
Aberrant abdominal umbilical arteries in VACTERL--association: a first case report. 62
23193752 2012
212
Surgical correction of tracheo-oesophageal fistula and oesophageal atresia in infants with VACTERL association: a retrospective case-control study. 62
22991204 2012
213
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. 62
22895008 2012
214
VACTERL association or VATER syndrome. 62
23155922 2012
215
Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study. 62
22978793 2012
216
Ureteral ectopia inserting into ipsilateral epididymis resulting in inflammatory paratesticular tumor. 62
22673544 2012
217
Sirenomelia: case reports and current concepts of pathogenesis. 62
22816558 2012
218
Esophageal atresia associated with anorectal malformation: Is the outcome better after surgery in two stages in a limited resources scenario? 62
22869975 2012
219
Familial occurrence of the VATER/VACTERL association. 62
22422375 2012
220
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. 62
22639458 2012
221
Inheritance of the VATER/VACTERL association. 62
22581124 2012
222
Sirenomelia: four further cases with discussion of associated upper limb defects. 62
22660421 2012
223
Clinical characteristics of neonates with VACTERL association. 62
22300427 2012
224
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. 62
22451504 2012
225
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. 62
22482989 2012
226
Associated malformations among infants with anophthalmia and microphthalmia. 62
22246853 2012
227
[Case report: cardiac conduction defects coexisting with the VACTERL association: a case report]. 62
22523816 2012
228
Urorectal septum malformation sequence in a newborn with VACTERL association. 62
22313652 2012
229
Distinctive vertebral abnormalities in a patient with VACTERL association. 62
22033847 2012
230
Prune Belly Syndrome Associated with Full Spectrum of VACTERL in a New Born. 62
24027688 2012
231
Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects. 62
21816548 2012
232
VACTERL association: a new case with biotinidase deficiency and annular pancreas. 62
22010814 2012
233
Laryngo-tracheo-oesophageal clefts. 62
22151899 2011
234
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. 62
21601242 2011
235
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH). 62
22052692 2011
236
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. 62
21653639 2011
237
Medical predictors of psychological anxieties in VATER patients. 62
21789667 2011
238
The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population. 62
21724702 2011
239
Personalized genomic medicine: lessons from the exome. 62
21767969 2011
240
VACTERL/VATER Association. 62
21846383 2011
241
Bias in patient series with VACTERL association. 62
21739573 2011
242
Ephrin-B reverse signaling controls septation events at the embryonic midline through separate tyrosine phosphorylation-independent signaling avenues. 62
21539827 2011
243
Right-sided congenital diaphragmatic hernia, hepatic pulmonary fusion, duodenal atresia, and imperforate anus in an infant. 62
21763847 2011
244
VACTERL Association. 62
22315751 2011
245
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association. 62
21235632 2011
246
A single-center experience with kidney transplantation in the verteberal, anal, cardiac, tracheoesophageal, renal, and limb birth detects (VACTERL) association. 62
21620102 2011
247
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. 62
21315191 2011
248
VACTERL association and mitochondrial dysfunction. 62
21308977 2011
249
Long-term outcomes of adults with features of VACTERL association. 62
20888933 2011
250
De novo microduplication at 22q11.21 in a patient with VACTERL association. 62
20849991 2011
251
Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy. 62
20734349 2011
252
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. 62
21253317 2010
253
Twin reversed arterial perfusion (TRAP) sequence in association with VACTERL association: a case report. 62
21176185 2010
254
Cardiac surgery of premature and low birthweight newborns: is a change of fate possible? 62
21092031 2010
255
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. 62
20949626 2010
256
Tibial developmental field defect in valproic acid embryopathy: Report on three cases. 62
20949521 2010
257
Consideration of VACTERL association in patients with trisomy 21. 62
20512033 2010
258
Congenital blepharoptosis co-occurring with VATER association. 62
20639790 2010
259
Analysis of component findings in 79 patients diagnosed with VACTERL association. 62
20683998 2010
260
Sirenomelia and VACTERL association in the offspring of a woman with diabetes. 62
20583159 2010
261
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. 62
20618949 2010
262
Genetic syndrome suspicion: examples of clinical approach in the neonatal unit. 62
21089741 2010
263
An 18-year experience of tracheoesophageal fistula and esophageal atresia. 62
21189942 2010
264
Evidence for inheritance in patients with VACTERL association. 62
20369369 2010
265
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 62
20452998 2010
266
Sonic hedgehog mutation analysis in patients with VACTERL association. 62
20186790 2010
267
VACTERL association in a cat. 62
20186795 2010
268
Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia. 62
20054858 2010
269
Sporadic neonatal Fanconi's anemia with VACTERL association. 62
20158659 2010
270
Prenatal diagnosis of tricuspid atresia: intrauterine course and outcome. 62
20101636 2010
271
The illusion of severe carpal tunnel syndrome (CTS). 62
19918777 2010
272
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association. 62
20676578 2010
273
Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal. 62
20038942 2010
274
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. 62
19822228 2010
275
Lumbocostovertebral syndrome with associated VACTERL anomalad: a neonatal case report. 62
19935732 2009
276
Transverse Singapore flap for reconstruction of a congenital rectovaginal fistula in an 18-month-old infant. 62
19816154 2009
277
MURCS and VACTERL association in a 27 year old female. 62
19821675 2009
278
Transthoracic echocardiography guidance of transcatheter atrial septal defect closure in children. 62
19458994 2009
279
Paracrine Hedgehog signaling in stomach and intestine: new roles for hedgehog in gastrointestinal patterning. 62
19445942 2009
280
Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child. 62
19474703 2009
281
Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association. 62
19218883 2009
282
Chronic kidney disease in the VACTERL association: clinical course and outcome. 62
19172300 2009
283
VATER association with multiple ribs anomalies. 62
19702039 2009
284
Double cystic duct in a child with VACTERL association: a case report. 62
19954104 2009
285
Enterolithiasis: a case report and review. 62
19361648 2009
286
A safety assessment of tumor necrosis factor antagonists during pregnancy: a review of the Food and Drug Administration database. 62
19132789 2009
287
Exposition to anti-TNF drugs during pregnancy: outcome of 15 cases and review of the literature. 62
19059799 2009
288
Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray. 62
19650417 2009
289
[Polymalformation syndrome in a neonate: VACTERL association with an extra spleen]. 62
19128779 2008
290
Identification of a HOXD13 mutation in a VACTERL patient. 62
19006232 2008
291
The role of the pediatric surgeon in the perinatal multidisciplinary team. 62
18855315 2008
292
Bronchial anomalies in VACTERL association. 62
18671276 2008
293
Supernumerary kidney in a term infant with VATER association. 62
18807682 2008
294
Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. 62
18587586 2008
295
A new case of VACTERL association with congenital arachnoid cyst. 62
18541975 2008
296
Of snakes and babies: intrathoracic stomach and vertebral rachischisis. A serpentine-like syndrome? 62
18639703 2008
297
Gross hematuria in the VATER association: coincidence or association. 62
18315711 2008
298
[Sirenomelia as a part of VACTERL association: a study of three cases]. 62
18706355 2008
299
Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association. 62
18386801 2008
300
Monozygotic twins discordant for VACTERL association. 62
18382992 2008
301
VACTERL association and maternal diabetes: a possible causal relationship? 62
18181216 2008
302
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. 62
18186125 2008
303
Cystic dysplasia of the rete testis in an adolescent with VATER association. 62
17938899 2008
304
Left superior vena cava in pediatric cardiology associated with extra-cardiac anomalies. 62
17391785 2008
305
Prenatal diagnosis of persistent cloaca associated with VATER (vertebral defects, anal atresia, tracheo-esophageal fistula, and renal dysplasia). 62
18075232 2007
306
Thoracoscopic treatment of esophageal atresia with distal fistula and of tracheomalacia. 62
17933663 2007
307
[The etiology of congenital diaphragmatic hernia and esophageal atresia: the Hox genes]. 62
18351244 2007
308
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. 62
17533626 2007
309
Dichorionic twin fetuses with VACTERL association. 62
17688633 2007
310
A new case of VACTERL association with unilateral amelia of upper limb. 62
17551334 2007
311
[Combined operation for congenital cardiovascular and other anomalies in children]. 62
17642211 2007
312
Switched-on Sonic hedgehog: a gene whose activity extends beyond fetal development--to oncogenesis. 62
17535169 2007
313
Oesophageal atresia. 62
17498283 2007
314
An overview of isolated and syndromic oesophageal atresia. 62
17489843 2007
315
Expression of homeotic genes Hoxa3, Hoxb3, Hoxd3 and Hoxc4 is decreased in the lungs but not in the hearts of adriamycin-exposed mice. 62
17211587 2007
316
Tethered spinal cord and VACTERL association. 62
17465385 2007
317
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. 62
17476318 2007
318
Posterior vertebral column resection for VATER/VACTERL associated spinal deformity: a case report. 62
18751773 2007
319
A female infant who had both complete VACTERL association and MURCS association: report of a case. 62
17879038 2007
320
Three novel mutations of the PAX6 gene in Japanese aniridia patients. 62
17568989 2007
321
Lethal comorbidity with genital anomaly in the infant. 62
18947676 2006
322
Disc drusen and peripapillary subretinal neovascular membrane in a child with the VACTERL association. 62
16498441 2006
323
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 62
16299066 2006
324
Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association. 62
16598388 2006
325
Tumor necrosis factor-alpha inhibition and VATER association: a causal relationship. 62
16652431 2006
326
Progressive congenital torticollis in VATER association syndrome. 62
16721283 2006
327
Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot. 62
16531730 2006
328
[An auricle prosthesis for a boy with the Vater association]. 62
16509514 2006
329
Sympathetic ophthalmia in vater association combined with persisting hyperplastic primary vitreous after cyclodestructive procedure. 62
28221480 2006
330
Sonic hedgehog expression in the development of hindgut in ETU-exposed fetal rats. 62
16369776 2006
331
Sympathetic ophthalmia in vater association combined with persisting hyperplastic primary vitreous after cyclodestructive procedure. 62
16496265 2006
332
Another observation with VATER association and a complex IV respiratory chain deficiency. 62
16473312 2006
333
Successful thoracoscopic repair of esophageal atresia with tracheoesophageal fistula in a newborn with single ventricle physiology. 62
16192508 2005
334
A neonate with anorectal malformation with rare limb defects report of a case. 62
16195913 2005
335
Adults with VATER association: long-term prognosis. 62
16152641 2005
336
KL-6 mucin expression in carcinoma of the ampulla of Vater: association with cancer progression. 62
16222735 2005
337
Renovascular hypertension complicated with VATER association. 62
15918006 2005
338
Should chromosome breakage studies be performed in patients with VACTERL association? 62
16015582 2005
339
Upper and lower urinary tract outcome after surgical repair of cloacal malformations: a three-decade experience. 62
15963135 2005
340
Identical twins concordant for pulmonary sequestration communicating with the esophagus and discordant for the VACTERL association. 62
15937657 2005
341
Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature. 62
15729561 2005
342
Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions. 62
15779021 2005
343
Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome. 62
15592852 2005
344
Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci. 62
15834633 2005
345
[MURCS association: a challenging diagnosis]. 62
15653055 2005
346
Ocular pathology in congenital heart disease. 62
15184955 2005
347
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. 62
15546153 2004
348
Pediatric renal transplantation and the dysfunctional bladder. 62
15517166 2004
349
Conditions leading to pediatric cardiology consultation in a tertiary academic hospital. 62
15466065 2004
350
VACTERL association with Prune-Belly syndrome. 62
15347875 2004
351
Coats disease and VATER association in a 5-year-old boy. 62
15302670 2004
352
Urogenital sinus, rectovaginal fistula, and an anterior stenosed anus--another cloacal variant. 62
15235809 2004
353
Ontogeny of the VATER kidney in a rat model. 62
15164339 2004
354
Associated anomalies with anorectal malformation (ARM). 62
15226560 2004
355
Adriamycin induces notochord hypertrophy with conservation of sonic hedgehog expression in abnormal ectopic notochord in the adriamycin rat model. 62
15185213 2004
356
Prenatal sonographic diagnosis of hemivertebra. 62
15244311 2004
357
Umbilical cord allantoic cysts in a newborn with vacterl association. 62
15163871 2004
358
Increased fibronectin expression in developing embryos is associated with abnormal notochord in the Adriamycin rat model. 62
14986037 2004
359
Characteristic findings for diagnosis of baby complicated with both the VACTERL association and duodenal atresia. 62
14764957 2004
360
Anesthetic management for a parturient affected by the VACTERL association. 62
14980963 2004
361
Assessment of CT urography in the diagnosis of urinary tract abnormalities. 62
15146902 2004
362
The TACRD association is distinct from VACTERL association--a case report. 62
15471135 2004
363
DEB test for Fanconi anemia detection in patients with atypical phenotypes. 62
14679584 2004
364
Tracheoesophageal fistula (H-type) in neonates with imperforate anus and the VATER association. 62
14504842 2004
365
Unilateral pulmonary atresia with total sacral agenesis and other congenital defects. 62
15127768 2004
366
Feingold syndrome: clinical review and genetic mapping. 62
14518066 2003
367
A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency. 62
14556254 2003
368
A case of dextrocardia, radial ray malformation and renal anomaly. 62
14564222 2003
369
Lower urinary tract reconstruction is safe and effective in children with end stage renal disease. 62
14501644 2003
370
VACTERL association with a cleft hand. 62
14684968 2003
371
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. 62
12949975 2003
372
Antenatal manifestations of mitochondrial respiratory chain deficiency. 62
12970634 2003
373
Adriamycin effects on the chick embryo. 62
12802607 2003
374
[Renal transplantation in Vater association patient: case report]. 62
19475290 2003
375
VATER Association. 62
12795510 2003
376
A role for sonic hedgehog signaling in the pathogenesis of human tracheoesophageal fistula. 62
12632368 2003
377
Tracheal bronchus associated with VACTERL. 62
12655420 2003
378
Notochord anomalies in the adriamycin rat model: A morphologic and molecular basis for the VACTERL association. 62
12632369 2003
379
Unusual manifestations of VACTERL association. 62
12626834 2003
380
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. 62
14577674 2003
381
Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association. 62
12375130 2002
382
Cell death in the early adriamycin rat model. 62
12471469 2002
383
Congenital absence of the long head of the biceps brachii tendon as a VATER association. 62
12216966 2002
384
Developmental field defects: coming together of associations and sequences during blastogenesis. 62
12116204 2002
385
Tibial agenesis with radial ray and cardiovascular defects. 62
12072793 2002
386
Subclavian and pulmonary steal phenomenon in isolated left subclavian artery with left lung agenesis. 62
12227719 2002
387
Anorectal anomalies associated with or as part of other anomalies. 62
12116249 2002
388
Growth patterns in children with congenital vertebral anomaly. 62
12045517 2002
389
Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management. 62
12001193 2002
390
Anomalies associated with oesophageal atresia in Asians and Europeans. 62
12021970 2002
391
First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. 62
12001200 2002
392
Hedgehog in the human: a possible explanation for the VATER association. 62
12030989 2002
393
Abnormal branching and regression of the notochord and its relationship to foregut abnormalities. 62
12015650 2002
394
Bilateral congenital lacrimal anlage ducts (lacrimal fistula) in a Patient With the VACTERL association. 62
11897957 2002
395
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation. 62
11891687 2002
396
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 62
11748304 2001
397
Prenatal diagnosis of VACTERL association. 62
11696794 2001
398
The VACTERL association: lessons from the Sonic hedgehog pathway. 62
11903345 2001
399
Renal anomalies in the VATER animal model. 62
11685704 2001
400
Partial urorectal septum malformation sequence: a report of 25 cases. 62
11568914 2001
401
Mechanisms for the development of esophageal atresia. 62
11431762 2001
402
An adriamycin experimental rat model inducing a wide variety of abnormalities similar to VACTERL association in humans is now well established. 62
11527207 2001
403
VATER non-random association of congenital malformations: study based on data from four malformation registers. 62
11343333 2001
404
The VACTERL association: lessons from the Sonic hedgehog pathway. 62
11359461 2001
405
Secondary aortoesophageal fistula as a lethal complication of continuous nasogastric sondage in a child with VATER syndrome. 62
17264556 2001
406
Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe. 62
11288111 2001
407
[Prenatal diagnosis and management in VACTERL association]. 62
11360852 2001
408
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association. 62
11158176 2001
409
VATER association: is it recognised by rheumatologists? 62
11346225 2001
410
[VATER association]. 62
11529023 2001
411
Prenatal diagnosis of VACTERL association: a case report. 62
11281494 2001
412
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications. 62
11223849 2001
413
Patterns of radial dysmorphology with the VACTERL association in the adriamycin-exposed prenatal rat. 62
11092363 2000
414
Simplified access for division of the low cervical/high thoracic H-type tracheoesophageal fistula. 62
11083436 2000
415
Sirenomelia with esophageal atresia. 62
11436149 2000
416
A case of VATER association mimicking spondylarthropathy. 62
11072616 2000
417
Cloacal and urogenital malformations in adriamycin-exposed rat fetuses. 62
10886093 2000
418
Tibial aplasia--VACTERL association, a new syndrome? 62
10955482 2000
419
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. 62
10945658 2000
420
Upper urinary tract manifestations of the VACTERL association. 62
10799237 2000
421
A fetus with VACTERL association, unilateral aplasia of the humerus and partial hemihypoplasia. 62
10826632 2000
422
Association of amelia and anal atresia is separate from VACTERL association. 62
10649805 2000
423
Development of the bones and synovial joints in the rat model of the VATER association. 62
10982690 2000
424
The contribution of the adriamycin-induced rat model of the VATER association to our understanding of congenital abnormalities and their embryogenesis. 62
11057543 2000
425
Female pseudohermaphroditism caused by caudal dysgenesis. 62
11173872 2000
426
Diphallia and the VATER association. 62
10569606 1999
427
Prenatal sonographic diagnosis of VATER association. 62
10440786 1999
428
Bladder augmentation with urothelial preservation. 62
10458448 1999
429
[Esophageal atresia and associated malformations]. 62
10513073 1999
430
A patient with VACTERL association, amelia and hemifacial microsomia. 62
10319203 1999
431
VACTERL as primary, polytopic developmental field defects. 62
10076879 1999
432
Dose response relationship between adriamycin and birth defects in a rat model of VATER association. 62
10211639 1999
433
Tracheal agenesis revisited: analysis of associated anomalies. 62
10069714 1999
434
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. 62
10325745 1999
435
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother. 62
10069704 1999
436
Microdeletion 22q11 and oesophageal atresia. 62
10051013 1999
437
Ectopic bronchus: an insufficiently recognized malformation causing respiratory morbidity in VATER association. 62
9934977 1999
438
VACTERL manifestations in two generations of a family. 62
9916841 1999
439
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 62
9934984 1999
440
Renal transplantation in children with severe lower urinary tract dysfunction. 62
10037414 1999
441
Tetralogy of Fallot. A population-based study of epidemiology, associated malformations and survival in western Denmark 1984-1992. 62
10093859 1999
442
Visceral anomalies in prenatally adriamycin-exposed rat fetuses: a model for the VATER association. 62
9914346 1999
443
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association. 62
9700611 1998
444
Posterior laryngeal clefts: preliminary report of a new surgical procedure using tibial periosteum as an interposition graft. 62
9628507 1998
445
[The VACTERL association: a report of a clinical case with hepatic cystic lymphangiectasis]. 62
9744019 1998
446
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies. 62
9623406 1998
447
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. 62
9572377 1998
448
[The VATER syndrome from the urologic viewpoint]. 62
9563136 1998
449
Coexistence of VATER association and recurrent urolithiasis: a case report. 62
9543375 1998
450
Congenital corneal anesthesia in children with the VACTERL association. 62
9437320 1998
451
Relationship between esophageal atresia with tracheoesophageal fistula and vertebral anomalies in mammalian embryos. 62
9473101 1998
452
Skeletal anomalies in the adriamycin-exposed prenatal rat: a model for VATER association. 62
9565073 1998
453
Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement? 62
9546828 1998
454
Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: report and review. 62
9375927 1997
455
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. 62
9382149 1997
456
Role of the antegrade continence enema in the management of the most debilitating childhood recto-urogenital anomalies. 62
9258194 1997
457
The spectrum of congenital anomalies of the VATER association: an international study. 62
9215761 1997
458
VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene. 62
8986283 1997
459
Congenital microgastria, growth hormone deficiency and diabetes insipidus. 62
9007489 1997
460
Unsuspected subglottic stenosis in a two-year-old. 62
9041577 1997
461
Diagnostic value of natural fill cystometry in neurogenic bladder in children. 62
9286658 1997
462
Prenatal diagnosis of a chest wall hamartoma and sternal cleft. 62
8807766 1996
463
Familial recurrence of tracheoesophageal fistula and associated malformations. 62
8826429 1996
464
VACTERL association, epidemiologic definition and delineation. 62
8826430 1996
465
VACTERL with the mitochondrial np 3243 point mutation. 62
8723071 1996
466
A new rodent experimental model of esophageal atresia and tracheoesophageal fistula: preliminary report. 62
8801299 1996
467
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. 62
8882398 1996
468
Perinatal pathology of interhemispheric cyst with thinned posterior corpus callosum: four cases. 62
9025836 1996
469
Fanconi's constitutional anemia and VATER association. 62
17372451 1996
470
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. 62
8741921 1996
471
Continent gastric pouch. 62
8731128 1996
472
A case of VATER association associated with 9qh+. 62
8985737 1996
473
[VATER association (VACTERL association)]. 62
9048026 1996
474
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. 62
8897042 1996
475
Non-cardiac malformations in individuals with outflow tract defects of the heart: the Baltimore-Washington Infant Study (1981-1989). 62
8849016 1995
476
Neurovascular anomaly in a patient with VATER association: coincident or syndromal? 62
8533855 1995
477
Anomalous ureteral insertion in VATER syndrome complicating renal transplantation. 62
7599401 1995
478
[Sirenomelia. Review of nosology and a case report]. 62
7730567 1995
479
The VATER association: analysis of forty six cases without karyotyping. 62
7778443 1995
480
Congenital microgastria in a premature infant. 62
7877041 1994
481
Distal spinal cord pathology in the VATER association. 62
7844733 1994
482
Intraoperative anaphylaxis due to exposure to latex (natural rubber) in children. 62
7962029 1994
483
Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. 62
7871484 1994
484
[Concordance of prune belly syndrome and VACTERL association]. 62
7799620 1994
485
Echocardiographic diagnosis of congenital absence of the pericardium in a patient with VATER association defects. 62
8001315 1994
486
Oligohydramnios sequence: the spectrum of renal malformations. 62
8043538 1994
487
Drug induced VATER association: is dibenzepin a possible cause? 62
7914930 1994
488
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). 62
8172251 1994
489
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. 62
8279476 1993
490
Congenital microgastria in an infant with the VACTERL association. 62
8331503 1993
491
Possible form of Fanconi pancytopenia as a phenocopy of the VACTERL association. 62
8281285 1993
492
Qualitative abnormal fetal breathing movements, associated with tracheal atresia. 62
8462434 1993
493
Tethered spinal cord in patients with anorectal and urogenital malformations. 62
8422325 1993
494
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis. 62
1481853 1992
495
[VACTERL association: report of two cases, one of them with situs inversus]. 62
1456626 1992
496
Patterns of acrorenal malformation associations. 62
1442878 1992
497
Accessory and ectopic scrotum with VATER association. 62
1413353 1992
498
Sling left pulmonary artery, bridging bronchus, and associated anomalies. 62
1488977 1992
499
[A case of prenatal diagnosis on the VATER association]. 62
1453050 1992
500
[Esophageal atresia and associated anomalies]. 62
1497227 1992
501
Morbidity and mortality in 46 patients with the VACTERL association. 62
1597357 1992
502
CHARGE and esophageal atresia. 62
1625119 1992
503
Vertebral hypersegmentation in a case of the VATER association. 62
1554011 1992
504
Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. 62
1554010 1992
505
[The VATER association]. 62
1305394 1992
506
Dermoid cyst and ipsilateral defects in VATER association. 62
1547592 1992
507
Imaging rounds #111. VATER association. 62
1314374 1992
508
Horseshoe lung: an additional component of the Vater association. 62
1307865 1992
509
The Vater association and spinal dysraphia. 62
1457373 1992
510
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? 62
1633641 1992
511
Single system ectopic ureters and ureteroceles associated with dysplastic kidney. 62
1508594 1992
512
Extensive upper aerodigestive tract anomalies in 'VACTERL' Association. 62
1845271 1991
513
Sacrococcygeal dysgenesis association. 62
1785625 1991
514
Radial artery hypoplasia: a further association with the VATER syndrome? 62
1875501 1991
515
[Brain abnormality within the scope of a VACTERL association]. 62
1896049 1991
516
[Tracheal agenesis. A case report]. 62
2036152 1991
517
VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. 62
2000280 1991
518
[Tracheal agenesis, a rare cause of respiratory insufficiency in newborn infants]. 62
2038346 1991
519
VATER and hydrocephalus: distinct syndrome? 62
2012132 1991
520
Urethral abnormalities in male neonates with VATER association. 62
1898547 1991
521
Renal obstructive dysplasia: ultrasound diagnosis and therapeutic implications. 62
1870925 1991
522
Townes-Brocks syndrome. 62
2279502 1990
523
Unilateral VATER association. 62
2240044 1990
524
VACTERL-association: an unusual case of fetus detected by ultrasound screening at 19 weeks of gestation. 62
2226560 1990
525
Prenatal ultrasonographic diagnosis of radial-ray reduction malformations. 62
2201963 1990
526
A dental and facial anomaly not previously reported with VACTERL association: report of case. 62
2345216 1990
527
Central nervous system malformations and the VATER association. 62
2134010 1990
528
Aberrant bronchi and cardiovascular anomalies. 62
2405669 1990
529
VACTERL with hydrocephalus: further delineation of the syndrome(s) 62
2816994 1989
530
VATER association. A unifying concept of multiple anomalies. 62
2663870 1989
531
Radial ray defects and associated anomalies. 62
2788043 1989
532
[Tracheal agenesis]. 62
2669676 1989
533
Oesophageal atresia and associated anomalies. 62
2705799 1989
534
Urogenital tract abnormalities associated with esophageal atresia and tracheoesophageal fistula. 62
2643727 1989
535
[A case of tracheal agenesis]. 62
2724598 1989
536
[Anomalies associated with ano-rectal malformations. Apropos of 67 cases]. 62
2743507 1989
537
Computerized tomography appearances of pelvic haemangioma involving the large bowel in childhood. 62
2771480 1989
538
[The CHARGE association]. 62
2682517 1989
539
Wilms tumor and the VATER association. 62
2843689 1988
540
Prenatal sonographic diagnosis of VATER association. 62
3152406 1988
541
[Skeletal anomalies in the VATER syndrome in human embryos]. 62
3415495 1988
542
Congenital uterovesical fistula in a patient with the VATER syndrome. 62
3382891 1988
543
VATER association: report of a case with three unreported malformations. 62
3351894 1988
544
Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios. 62
3278306 1988
545
High proximal pouch esophageal atresia with vertebral, rib, and sternal anomalies: an additional component to the VATER association. 62
3351734 1988
546
The expanded spectrum of limb anomalies in the VATER association. 62
3368246 1988
547
Giant ectopic ureter presenting as abdominal mass in infant. 62
3629767 1987
548
Population surveillance of multimalformed infants--experience with the Swedish Registry of Congenital Malformations. First Part. 62
3655747 1987
549
[Intestinal malformations and congenital heart diseases]. 62
3113372 1987
550
Surgical treatment of infants with esophageal atresia and VATER association. 62
3583704 1987
551
[Rectum and bladder duplication with malformations of the VACTERL association]. 62
3586560 1987
552
Transposition of the external genitalia associated with the VACTERL association. 62
3582416 1987
553
Acephalus-acardia in twins with aneuploidy. 62
3130847 1987
554
Growth in the VATER association. 62
3776932 1986
555
Requirements for the VATER association. 62
3766481 1986
556
Exogenous sex hormone exposure and the risk for VACTERL association. 62
3775669 1986
557
[Megacolon and the VATER association or syndrome]. 62
3589223 1986
558
Analysis of growth in the VATER association. 62
3953531 1986
559
Temporal bone findings in VATER syndrome. 62
3947461 1986
560
The VATER association. Analysis of 46 patients. 62
3946352 1986
561
The VATER Association. 62
3946354 1986
562
Orthopaedic aspects of the VATER association. 62
3949837 1986
563
Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. 62
3943255 1986
564
Vater association and anorectal malformations. 62
3962509 1986
565
Twins discordant for vater association. Obstructed labor of the second twin due to ascites and persistent cloaca without communication to the exterior. 62
3727944 1986
566
Etiological heterogeneity in sirenomelia. 62
3725705 1986
567
VATER and other associations: historical perspectives and modern interpretations. 62
3146305 1986
568
Prenatal and postnatal sonographic delineation of gastrointestinal abnormalities in a case of the VATER syndrome. 62
3511277 1986
569
An aetiological study of the VACTERL-association. 62
4076249 1985
570
Congenital absence of the scaphoid in the "VATER" association. 62
4031616 1985
571
Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association. 62
4003446 1985
572
[The Vater association in a newborn infant of a diabetic mother]. 62
4034342 1985
573
Tracheal agenesis in infants with VATER association. 62
3881931 1985
574
VATER association: analysis of growth and development. 62
3986025 1985
575
[Associated abnormalities in the VACTERL syndrome--case report with autopsy findings]. 62
3974165 1985
576
[Additional anomalies in 2 children with the VACTERL association]. 62
6150426 1984
577
[Kaufmann syndrome or VACTERL association? Discussion of a differential diagnosis]. 62
6736938 1984
578
[Etiopathogenetic study of the VACTERL association]. 62
6709346 1984
579
Spondylo-costal dysplasia. A further report--review of 14 cases. 62
6420292 1984
580
VACTERL-association. 62
6435405 1984
581
[Association of VACTERL and hydrocephalus: a new familial entity]. 62
6335367 1984
582
Neural defects in Say-Gerald (VATER) syndrome. 62
6744989 1984
583
Malformed female genitalia in newborns with the VATER association. 62
6673494 1983
584
VATER association and unrecognized bronchopulmonary foregut malformation complicating anesthesia. 62
6606769 1983
585
A population study of the VACTERL association: evidence for its etiologic heterogeneity. 62
6835768 1983
586
Urologic implications of the VATER association. 62
6834507 1983
587
[The VACTERL association and its nosologic limits]. 62
6927347 1982
588
Single vaginal ectopic ureter and the VATER syndrome. 62
7087031 1982
589
Recurrence of the VATER association within a sibship. 62
7083612 1982
590
Circular esophagomyotomy for primary repair of long-gap esophageal atresia. 62
7252742 1981
591
Esophageal muscular ring and the VACTERL association: a case report. 62
7254997 1981
592
Surgical experience in infants with the VATER association. 62
7463285 1980
593
Ectopic labium and VATER association in a newborn. 62
7411709 1980
594
[Clinical variability of the Vater syndrome. Clinical case]. 62
7382957 1980
595
VATER association (a case report). 62
541080 1979
596
[The VATER syndrome in a 2-and-half-year-old girl]. 62
445665 1979
597
Genital malformations in a child with VATER association. 62
433863 1979
598
Caudal regression anomalad (sacral agenesis) in siblings. 62
657575 1978
599
The VATER Association. 62
622495 1978
600
[The VATER association (presentation of 2 anatomoclinical cases)]. 62
756993 1978
601
The syndromology of anorectal malformation (atresia, stenosis, ectopia). 62
352149 1978
602
Congenital anomalies including the VATER association in a patient with del(6)q deletion. 62
925830 1977
603
Monozygotic twins concordant for tracheo-esophageal fistula and discordant for the VATER association. 62
562588 1977
604
The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): Developmental aspects and eye findings. 62
842344 1977
605
Vater syndrome: hypothesis and report of two further cases. 62
841481 1977
606
[Vater or Vacterl syndrome (author's transl)]. 62
988425 1976
607
The Vater association: malformations of the male external genitalia. 62
1258631 1976
608
A 94-mm human fetus with the VACTERL association of anomalies. 62
943859 1976
609
[Congenital malformations associated with esophageal atresia (author's transl)]. 62
1267305 1976
610
Letter: Misuse of acronyms and the VATER association. 62
1111705 1975
611
The Vater association; one end of a spectrum of anomalies. 62
4440646 1974
612
The Vater association. 62
4440645 1974
613
Extending the scope of the VATER association: definition of the VATER syndrome. 62
4372554 1974
614
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. 62
4681850 1973

Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

5 (showing 24, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 15 genes GRCh37/hg19 17q12(chr17:34815551-36208392)x1 CN LOSS Pathogenic
393547 GRCh37: 17:34815551-36208392
GRCh38:
2 FANCL NM_018062.4(FANCL):c.268del (p.Leu90fs) DEL Pathogenic
209076 rs869320684 GRCh37: 2:58453868-58453868
GRCh38: 2:58226733-58226733
3 CDH13 GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1 CN LOSS Likely Pathogenic
393545 GRCh37: 16:83414018-83518410
GRCh38:
4 FAM170A GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1 CN LOSS Likely Pathogenic
393534 GRCh37: 5:118890915-119082631
GRCh38:
5 overlap with 2 genes GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3 CN GAIN Likely Pathogenic
393538 GRCh37: 10:43796180-44037408
GRCh38:
6 FOXF1 NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) SNV Likely Pathogenic
190130 rs752504125 GRCh37: 16:86544833-86544833
GRCh38: 16:86511227-86511227
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 CN LOSS Likely Pathogenic
393549 GRCh37: 22:18915347-21463730
GRCh38:
8 HOXD13 NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) DEL Uncertain Significance
14877 rs587776824 GRCh37: 2:176957781-176957801
GRCh38: 2:176093053-176093073
9 NOTCH2 NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) SNV Uncertain Significance
596711 rs377058108 GRCh37: 1:120478194-120478194
GRCh38: 1:119935571-119935571
10 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3 CN GAIN Likely Benign
393546 GRCh37: 17:1007540-1254875
GRCh38:
11 NALCN GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1 CN LOSS Likely Benign
393543 GRCh37: 13:101605129-101748121
GRCh38:
12 AGMO GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3 CN GAIN Likely Benign
393535 GRCh37: 7:15424383-15534832
GRCh38:
13 PARM1 GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1 CN LOSS Likely Benign
393532 GRCh37: 4:75720151-75883784
GRCh38:
14 overlap with 8 genes GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1 CN LOSS Likely Benign
393544 GRCh37: 15:84931022-85728834
GRCh38:
15 overlap with 2 genes GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3 CN GAIN Likely Benign
393541 GRCh37: 13:43505151-43762719
GRCh38:
16 overlap with 3 genes GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3 CN GAIN Likely Benign
393548 GRCh37: 17:80881583-81060040
GRCh38:
17 overlap with 3 genes GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3 CN GAIN Likely Benign
393531 GRCh37: 2:132140614-132312325
GRCh38:
18 overlap with 2 genes GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1 CN LOSS Likely Benign
393540 GRCh37: 12:100367541-100489446
GRCh38:
19 SMYD3 GRCh37/hg19 1q44(chr1:245900039-246475061)x1 CN LOSS Likely Benign
393530 GRCh37: 1:245900039-246475061
GRCh38:
20 overlap with 2 genes GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1 CN LOSS Likely Benign
393537 GRCh37: 9:97290466-97419146
GRCh38:
21 GPC5 GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1 CN LOSS Likely Benign
393542 GRCh37: 13:93377562-93606814
GRCh38:
22 SORCS1 GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3 CN GAIN Likely Benign
393539 GRCh37: 10:107722094-109081424
GRCh38:
23 NREP GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1 CN LOSS Likely Benign
393533 GRCh37: 5:111241351-111390356
GRCh38:
24 CNTNAP2 GRCh37/hg19 7q35(chr7:147516080-147803861)x1 CN LOSS Likely Benign
393536 GRCh37: 7:147516080-147803861
GRCh38:

Expression for Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Pathways for Vacterl Association

GO Terms for Vacterl Association

Cellular components related to Vacterl Association according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 9.63 GLI3 GLI2 GLI1
2 ciliary base GO:0097546 9.43 GLI3 GLI2 GLI1
3 GLI-SUFU complex GO:1990788 9.02 GLI3 GLI2 GLI1

Biological processes related to Vacterl Association according to GeneCards Suite gene sharing:

(showing 65, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.61 ZIC3 SHH SALL1 HOXD13 GLI3 GLI2
2 positive regulation of DNA-templated transcription GO:0045893 10.55 ZIC3 SHH SALL1 GLI3 GLI2 GLI1
3 skeletal system development GO:0001501 10.31 ZIC3 HOXD13 GLI2 CHD7
4 regulation of cell population proliferation GO:0042127 10.27 SHH HOXD13 GLI3 FANCL
5 central nervous system development GO:0007417 10.27 CHD7 GLI3 MNX1 SHH ZIC3
6 heart looping GO:0001947 10.21 ZIC3 SHH FGF8
7 neuron differentiation GO:0030182 10.21 ZIC3 SHH GLI3 GLI2 FGF8
8 odontogenesis of dentin-containing tooth GO:0042475 10.19 SHH GLI3 GLI2
9 branching involved in ureteric bud morphogenesis GO:0001658 10.19 SHH SALL1 GLI3 FGF8
10 metanephros development GO:0001656 10.17 SHH GLI3 FGF8
11 embryonic hindlimb morphogenesis GO:0035116 10.16 SHH FGF8 CHD7
12 proximal/distal pattern formation GO:0009954 10.16 GLI1 GLI2 GLI3
13 pituitary gland development GO:0021983 10.15 GLI1 GLI2 SALL1
14 kidney development GO:0001822 10.15 SHH SALL1 PCSK5 GLI3 GLI2 FGF8
15 stem cell proliferation GO:0072089 10.14 SHH GLI3 GLI2 FGF8
16 roof of mouth development GO:0060021 10.13 SHH GLI3 CHD7
17 male genitalia development GO:0030539 10.12 FGF8 HOXD13 SHH
18 embryonic digit morphogenesis GO:0042733 10.11 SHH SALL1 HOXD13 GLI3 GLI2
19 embryonic digestive tract morphogenesis GO:0048557 10.1 SHH GLI3 FOXF1
20 determination of left/right symmetry GO:0007368 10.1 ZIC3 SHH PCSK5 FOXF1 FGF8
21 smoothened signaling pathway GO:0007224 10.1 FOXF1 GLI1 GLI2 GLI3 SHH ZIC3
22 developmental growth GO:0048589 10.07 GLI2 GLI3 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 10.06 SHH GLI3 GLI2
24 anterior/posterior pattern specification GO:0009952 10.06 GLI2 GLI3 HOXD13 PCSK5 SHH ZIC3
25 limb development GO:0060173 10.05 CHD7 GLI3 SALL1 SHH
26 branching involved in salivary gland morphogenesis GO:0060445 10.03 SHH FGF8
27 artery development GO:0060840 10.03 SHH GLI3
28 positive regulation of alpha-beta T cell differentiation GO:0046638 10.03 SHH GLI3
29 forebrain development GO:0030900 10.03 ZIC3 SHH GLI3
30 embryonic foregut morphogenesis GO:0048617 10.03 FOXF1 SHH
31 embryonic neurocranium morphogenesis GO:0048702 10.02 GLI3 FGF8
32 alpha-beta T cell differentiation GO:0046632 10.02 SHH GLI3
33 camera-type eye development GO:0043010 10.02 CHD7 GLI3 SHH
34 lung lobe morphogenesis GO:0060463 10.01 SHH FOXF1
35 forebrain dorsal/ventral pattern formation GO:0021798 10.01 GLI3 FGF8
36 embryonic limb morphogenesis GO:0030326 10.01 SHH HOXD13 GLI3
37 hindgut morphogenesis GO:0007442 10.01 GLI2 GLI3 SHH
38 cerebellar cortex morphogenesis GO:0021696 10 GLI1 GLI2
39 prostate gland development GO:0030850 10 GLI1 HOXD13 SHH
40 olfactory nerve development GO:0021553 9.99 CHD7 SALL1
41 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.99 GLI2 GLI3
42 negative regulation of alpha-beta T cell differentiation GO:0046639 9.99 GLI3 SHH
43 pattern specification process GO:0007389 9.98 ZIC3 SHH HOXD13 GLI3 GLI2
44 respiratory tube development GO:0030323 9.97 SHH PCSK5 FOXF1
45 dorsal/ventral pattern formation GO:0009953 9.97 SHH GLI3 GLI2 GLI1 FGF8
46 larynx morphogenesis GO:0120223 9.95 FGF8 GLI3
47 negative regulation of hh target transcription factor activity GO:1990787 9.95 GLI3 GLI2 GLI1
48 ventral midline development GO:0007418 9.95 GLI1 GLI2 SHH
49 spinal cord motor neuron differentiation GO:0021522 9.94 SHH GLI3 GLI2
50 lung morphogenesis GO:0060425 9.93 SHH FOXF1 FGF8
51 spinal cord dorsal/ventral patterning GO:0021513 9.92 GLI2 GLI3 SHH
52 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.91 GLI1 GLI2 SHH
53 limb morphogenesis GO:0035108 9.91 ZIC3 PCSK5 HOXD13 GLI3 FGF8
54 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.88 GLI3 GLI2
55 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901620 9.88 GLI3 GLI2
56 subpallium development GO:0021544 9.87 GLI3 FGF8
57 trachea development GO:0060438 9.87 SHH FOXF1
58 tube development GO:0035295 9.84 GLI3 GLI2
59 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.83 GLI3 GLI2
60 pallium development GO:0021543 9.83 FGF8 GLI3
61 notochord regression GO:0060032 9.81 GLI2 GLI1
62 embryonic digestive tract development GO:0048566 9.81 SALL1 PCSK5 GLI3 GLI2 FOXF1
63 anatomical structure formation involved in morphogenesis GO:0048646 9.77 GLI2 GLI3 SHH
64 lung development GO:0030324 9.77 FGF8 FOXF1 GLI1 GLI2 GLI3 SHH
65 heart development GO:0007507 9.53 ZIC3 SHH SALL1 PCSK5 GLI3 GLI2

Molecular functions related to Vacterl Association according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 ZIC3 SALL1 MNX1 HOXD13 GLI3 GLI2
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.11 CHD7 FOXF1 FOXL1 GLI1 GLI2 GLI3
3 DNA-binding transcription factor activity GO:0003700 10.06 ZIC3 HOXD13 GLI3 GLI2 FOXL1 FOXF1
4 sequence-specific DNA binding GO:0043565 9.65 ZIC3 GLI3 GLI2 GLI1 FOXL1 FOXF1
5 DNA binding GO:0003677 9.55 ZIC3 SALL1 MNX1 HOXD13 GLI3 GLI2

Sources for Vacterl Association

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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