Vacterl Association disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 vater/vacterl association and vacterl association, x-linked, with or without hydrocephalus. 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...

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Related Diseases for Vacterl Association

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

(show top 50) (show all 324)

#	Related Disease	Score	Top Affiliating Genes
1	vater/vacterl association	32.8	HOXD13 FOXF1 FANCL FAM170A CDH13
2	vacterl association, x-linked, with or without hydrocephalus	32.8	ZIC3 TRAP1 FOXF1 FANCL FANCB
3	vacterl association with hydrocephaly, x-linked	32.7	ZIC3 FANCL
4	heart septal defect	30.8	ZIC3 FGF8 CHD7
5	renal hypodysplasia/aplasia 1	30.7	SALL1 FGF8 CHD7
6	duodenal atresia	30.7	ZIC3 SHH MTHFSD FOXF1
7	ventricular septal defect	30.6	ZIC3 FOXF1 FGF8 CHD7
8	atrial heart septal defect	30.6	ZIC3 SHH FOXF1 CHD7
9	hypospadias	30.4	SHH HOXD13 FGF8
10	diaphragmatic hernia, congenital	30.4	SHH GLI3 FOXF1
11	esophageal atresia	30.3	ZIC3 SHH MTHFSD HOXD13 GLI3 GLI2
12	vesicoureteral reflux	30.3	ZIC3 SALL1 FGF8
13	patent ductus arteriosus 1	30.3	ZIC3 FOXF1 CHD7
14	tetralogy of fallot	30.2	ZIC3 SHH FOXF1 FGF8 CHD7
15	pancreas, annular	30.1	ZIC3 SHH MTHFSD FOXL1 FOXF1
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	townes-brocks syndrome	29.7	SHH SALL1 HOXD13 GLI3 FGF8 CHD7
26	tracheomalacia	29.7	SHH FOXF1
27	polydactyly	29.7	SHH MNX1 HOXD13 GLI3 GLI2 GLI1
28	sacral defect with anterior meningocele	29.5	SHH PCSK5 MNX1 HOXD13 FGF8
29	currarino syndrome	29.5	SHH PCSK5 MNX1 HOXD13
30	microphthalmia, syndromic 3	29.3	SHH MTHFSD GLI3 FOXL1 FOXF1 FANCB
31	craniosynostosis	29.2	SHH GLI3 GLI2 GLI1 FGF8
32	anus, imperforate	29.1	ZIC3 SHH SALL1 MTHFSD MNX1 HOXD13
33	cleft palate, isolated	29.1	ZIC3 SHH GLI3 GLI2 GLI1 FGF8
34	holoprosencephaly	29.0	SHH MNX1 GLI3 GLI2 GLI1 FGF8
35	chromosome 2q35 duplication syndrome	28.9	SHH SALL1 HOXD13 GLI3 GLI2 GLI1
36	pallister-hall syndrome	28.3	ZIC3 SHH SALL1 MTHFSD HOXD13 GLI3
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

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

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Symptoms & Phenotypes for Vacterl Association

MGI Mouse Phenotypes related to Vacterl Association:

⁴⁵ (show all 15)

#	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

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Drugs & Therapeutics for Vacterl Association

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

#

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

Vitamin B3

4

Nicotinic Acids

Interventional clinical trials:

#	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

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Genetic Tests for Vacterl Association

Genetic tests related to Vacterl Association:

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

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Anatomical Context for Vacterl Association

Organs/tissues related to Vacterl Association:

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

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Publications for Vacterl Association

Articles related to Vacterl Association:

(show top 50) (show all 617)

#	Title	Authors	PMID	Year
1	Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ⁶² ⁵	Vetro A...Zuffardi O	25754594	2015
2	[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. ⁵	Grechenko TN	2629409	1989
3	High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. ⁶²	Belanger Deloge R...Scott DA	36474027	2022
4	Swallowing-related quality of life in children with oesophageal atresia: a national cohort study. ⁶²	Bergmann S...Lurz E	36331620	2022
5	Preliminary Experience With Quadratus Lumborum Catheters for Postoperative Pain Management in Pediatric-Aged Patients With Contraindications to Epidural Anesthesia. ⁶²	Pooley R...Tobias JD	36406942	2022
6	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	LePoidevin L...Schutt A	36212569	2022
7	NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. ⁶²	Mark PR	35484986	2022
8	Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. ⁶²	Kortbawi H...Slavotinek A	35491967	2022
9	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	Ahmad H...McCracken KA	35879143	2022
10	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	Thiem CE...Reutter H	35362267	2022
11	Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. ⁶²	Tesfaye E...Tadele H	35813671	2022
12	Is horseshoe lung a component of VACTERL spectrum? Case report and review of literature. ⁶²	Cerron-Vela C...Davila J	35282320	2022
13	Birth defect co-occurrence patterns in the Texas Birth Defects Registry. ⁶²	Benjamin RH...Agopian AJ	34193968	2022
14	Congenital musculoskeletal anomalies - key radiographic findings. ⁶²	Gill KG	34731287	2022
15	Prenatal diagnosis of VACTERL association in the first trimester. ⁶²	Zhang W...Chen J	35037266	2022
16	Long-term urology outcomes of anorectal malformation. ⁶²	Chong C...Taghizadeh A	35283020	2022
17	Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. ⁶²	Howley MM...National Birth Defects Prevention Study	35277952	2022
18	Prenatal Diagnosis and Outcome of Scimitar Syndrome: A Case Series of Six Patients. ⁶²	Recker F...Berg C	35330021	2022
19	Genetic Evidence for Congenital Vascular Disorders in Patients with VACTERL Association. ⁶²	Ritter J...Hubertus J	34823266	2022
20	Right Pulmonary Artery Originating from Ascending Aorta (Hemitruncus Arteriosus) with VACTERL Association in a Neonate: A Case Report. ⁶²	Shin BS...Byun JH	35204915	2022
21	Extra-cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot. ⁶²	Sharma R...McBrien A	35060156	2022
22	Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register. ⁶²	O'Keefe D...Halliday J	34343375	2022
23	Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study. ⁶²	Kassa AM...Engstrand Lilja H	35622841	2022
24	Terminal myelocystocele: Surgical management. ⁶²	Massa DS...Medina SAP	35855164	2022
25	A Network of Anomalies Prompting VACTERL Workup in a Trisomy 21 Newborn. ⁶²	Reinicke T...Griggs C	35186552	2022
26	Primary repair of esophageal atresia is followed by multiple diagnostic and surgical procedures. ⁶²	van Hoorn CE...Schnater JM	34229878	2021
27	Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. ⁶²	Kolvenbach CM...Hildebrandt F	34338422	2021
28	VACTERL association in a fetus with multiple congenital malformations - Case report. ⁶²	Pariza PC...Bohil?ea RE	35126759	2021
29	Quality of Life Outcomes in Primary Caregivers of Children with Esophageal Atresia. ⁶²	Tan Tanny SP...King SK	34329689	2021
30	Anal atresia as the diagnostic clue in VACTERL association: A first-trimester case report. ⁶²	Wang Y...Chen J	34365700	2021
31	Post-herniorrhaphy extubation technique in pediatric patient with congenital diaphragmatic hernia and VACTERL association: A case report. ⁶²	Iracily DP...Moeljono E	34540207	2021
32	Fifty years of recognizable patterns of human malformation: Insights and opportunities. ⁶²	Innes AM...Lynch DC	33951288	2021
33	Surgical Management of an Obstructive Müllerian Anomaly in a Patient with Anorectal Malformation. ⁶²	Theodorou CM...Saadai P	34414074	2021
34	Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes. ⁶²	Young AA...Hornberger LK	34118793	2021
35	VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome. ⁶²	Hasan Z...Kumar S	34321798	2021
36	Accompanied anomalies in anal atresia or tracheo-esophageal fistula: Comparison with or without VACTERL association. ⁶²	Ahn JH...Choi HJ	33616304	2021
37	Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. ⁶²	Stevenson RE	33522143	2021
38	Triple Atresia, Triple Threat? An Unusual Constellation of Primary Surgical Abnormalities. ⁶²	Jackson R...Folaranmi SE	33921220	2021
39	Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases. ⁶²	Bresciani L...Redaelli de Zinis LO	33805876	2021
40	Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. ⁶²	Lai ST...Wang W	33678342	2021
41	The Classification of VACTERL Association into 3 Groups According to the Limb Defect. ⁶²	Al-Qattan MM	33680640	2021
42	Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. ⁶²	Pelizzo G...Calcaterra V	33466296	2021
43	Assisted Reproductive Technology and Anorectal Malformation: A Single-Center Experience. ⁶²	Iacusso C...Bagolan P	34604138	2021
44	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	Harumatsu T...Ieiri S	33409676	2021
45	Multidisciplinary approach to paediatric aerodigestive disorders: A single-centre longitudinal observational study. ⁶²	Fuladi A...Kapur N	32886957	2020
46	Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. ⁶²	Martin EMMA...Chapman G	33276377	2020
47	Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. ⁶²	Moreno OM...Rojas A	33505230	2020
48	Maternal risk associated with the VACTERL association: A case-control study. ⁶²	van de Putte R...van Rooij IALM	33179873	2020
49	[Morbidity of congenital heart disease in children with anorectal malformations and related treatment]. ⁶²	Liu Y...Gu Y	33210486	2020
50	Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. ⁶²	Riedhammer KM...Hoefele J	32359821	2020

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Genes for Vacterl Association

Genes related to Vacterl Association (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FANCL	FA Complementation Group L	Protein Coding	411.87	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	25754594
2	FOXF1	Forkhead Box F1	Protein Coding	32.38	Likely pathogenic ⁵ DISEASES inferred ¹⁴	2629409
3	CDH13	Cadherin 13	Protein Coding	25	Likely pathogenic ⁵
4	FAM170A	Family With Sequence Similarity 170 Member A	Protein Coding	25	Likely pathogenic ⁵
5	ZIC3	Zic Family Member 3	Protein Coding	24.12	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	HOXD13	Homeobox D13	Protein Coding	14.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	MTHFSD	Methenyltetrahydrofolate Synthetase Domain Containing	Protein Coding	6.7	DISEASES inferred ¹⁴
8	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	6.69	DISEASES inferred ¹⁴
9	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	6.51	DISEASES inferred ¹⁴
10	SALL1	Spalt Like Transcription Factor 1	Protein Coding	6.26	DISEASES inferred ¹⁴
11	FANCB	FA Complementation Group B	Protein Coding	6.21	DISEASES inferred ¹⁴
12	GLI3	GLI Family Zinc Finger 3	Protein Coding	6.08	DISEASES inferred ¹⁴
13	TRAP1	TNF Receptor Associated Protein 1	Protein Coding	6.01	DISEASES inferred ¹⁴
14	FOXL1	Forkhead Box L1	Protein Coding	5.8	DISEASES inferred ¹⁴
15	FGF8	Fibroblast Growth Factor 8	Protein Coding	5.78	DISEASES inferred ¹⁴
16	GLI2	GLI Family Zinc Finger 2	Protein Coding	5.7	DISEASES inferred ¹⁴
17	PCSK5	Proprotein Convertase Subtilisin/Kexin Type 5	Protein Coding	5.61	DISEASES inferred ¹⁴
18	RBM8A	RNA Binding Motif Protein 8A	Protein Coding	5.5	DISEASES inferred ¹⁴
19	GLI1	GLI Family Zinc Finger 1	Protein Coding	5.5	DISEASES inferred ¹⁴
20	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	5.49	DISEASES inferred ¹⁴
21	PAX2	Paired Box 2	Protein Coding	5.48	DISEASES inferred ¹⁴
22	ZIC2	Zic Family Member 2	Protein Coding	5.41	DISEASES inferred ¹⁴

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Variations for Vacterl Association

ClinVar genetic disease variations for Vacterl Association:

⁵ (show all 24)

#	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	NOTCH2	NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)	SNV	Uncertain Significance	596711	rs377058108	GRCh37: 1:120478194-120478194 GRCh38: 1:119935571-119935571
9	HOXD13	NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del)	DEL	Uncertain Significance	14877	rs587776824	GRCh37: 2:176957781-176957801 GRCh38: 2:176093053-176093073
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:

Sources

Expression for Vacterl Association

Search GEO for disease gene expression data for Vacterl Association.

Sources

Pathways for Vacterl Association

Pathways related to Vacterl Association according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.24	SHH GLI3 GLI2 GLI1
2	Neural Stem Cells and Lineage-specific Markers ⁶⁵	11.57	SHH MNX1 FGF8
3	Genes controlling nephrogenesis ⁷⁴	11.3	SHH GLI3 FGF8
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.22	SHH GLI2 GLI1
5	Hedgehog signaling pathway ⁷⁴	11.18	SHH GLI3 GLI2 GLI1
6	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	11.17	SHH GLI3 GLI2
7	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.11	GLI3 GLI2 GLI1
8	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.04	SHH GLI3 GLI2 GLI1
9	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	10.94	GLI1 GLI2 SHH
10	Kallmann syndrome ⁷⁴	10.86	FGF8 CHD7
11	Dopaminergic neurogenesis ⁷⁴	10.73	SHH GLI2 GLI1 FGF8
12	Development of ureteric collection system ⁷⁴	10.67	SHH SALL1 GLI3 GLI2 GLI1
13	EDA signaling in hair follicle development ⁷⁴	10.55	SHH GLI1
14	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.5	SHH GLI3 FGF8

Sources

GO Terms for Vacterl Association

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

#	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:

(show top 50) (show all 65)

#	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

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

#	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

Sources for Vacterl Association

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: VCT001 MIFTS: 50	Vacterl Association Categories: Nephrological diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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