VACTERL-H
MCID: VCT004
MIFTS: 33

Vacterl Association with Hydrocephalus (VACTERL-H)

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vacterl Association with Hydrocephalus

MalaCards integrated aliases for Vacterl Association with Hydrocephalus:

Name: Vacterl Association with Hydrocephalus 57 72 29 6 70
Vacterl-H 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
? autosomal recessive


HPO:

31
vacterl association with hydrocephalus:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vacterl Association with Hydrocephalus

OMIM® : 57 VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515). (276950) (Updated 20-May-2021)

MalaCards based summary : Vacterl Association with Hydrocephalus, also known as vacterl-h, is related to hydrocephalus and vacterl with hydrocephalus. An important gene associated with Vacterl Association with Hydrocephalus is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include heart, bone marrow and bone, and related phenotypes are hydrocephalus and respiratory insufficiency

UniProtKB/Swiss-Prot : 72 VACTERL association with hydrocephalus: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Related Diseases for Vacterl Association with Hydrocephalus

Diseases in the Vacterl with Hydrocephalus family:

Vacterl Association with Hydrocephalus

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 29.9 PTEN FANCB
2 vacterl with hydrocephalus 29.8 PTEN FANCB
3 anus, imperforate 29.6 SALL1 FANCB
4 vacterl association 29.0 SALL1 PTEN KLLN FANCB
5 vacterl association, x-linked, with or without hydrocephalus 11.4
6 vacterl association with hydrocephaly, x-linked 11.4
7 vacterl hydrocephaly 11.4
8 vater/vacterl association 11.3
9 esophageal atresia 10.2
10 renal hypodysplasia/aplasia 1 10.1
11 baller-gerold syndrome 10.1
12 fanconi anemia, complementation group a 10.1
13 fanconi anemia, complementation group b 10.1
14 scoliosis 10.1
15 oligohydramnios 10.1
16 ventricular septal defect 10.1
17 heart septal defect 10.1
18 congenital amyoplasia 10.1
19 tracheoesophageal fistula with or without esophageal atresia 10.0
20 deficiency anemia 10.0
21 hypothyroidism 10.0
22 syringomyelia, noncommunicating isolated 9.9
23 fanconi anemia, complementation group d2 9.9
24 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9
25 heterotaxy, visceral, 1, x-linked 9.9
26 fanconi anemia, complementation group d1 9.9
27 atrial heart septal defect 9.9
28 syringomyelia 9.9
29 heterotaxy 9.9
30 inherited bone marrow failure syndromes 9.9
31 sirenomelia 9.9
32 glioma susceptibility 2 9.9 PTEN KLLN
33 macrocephaly/autism syndrome 9.8 PTEN KLLN
34 cowden syndrome 1 9.7 PTEN KLLN
35 cowden syndrome 9.7 PTEN KLLN
36 nijmegen breakage syndrome 9.7 PTEN FANCB
37 meningioma, familial 9.6 PTEN KLLN

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



Diseases related to Vacterl Association with Hydrocephalus

Symptoms & Phenotypes for Vacterl Association with Hydrocephalus

Human phenotypes related to Vacterl Association with Hydrocephalus:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 respiratory insufficiency 31 HP:0002093
3 aqueductal stenosis 31 HP:0002410
4 abnormal vertebral morphology 31 HP:0003468
5 anal atresia 31 HP:0002023
6 renal hypoplasia 31 HP:0000089
7 abnormality of the vertebral column 31 HP:0000925
8 respiratory failure 31 HP:0002878
9 abnormality of cardiovascular system morphology 31 HP:0030680
10 abnormal heart morphology 31 HP:0001627
11 absent thumb 31 HP:0009777
12 radial club hand 31 HP:0004059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
hydrocephalus
aqueductal stenosis

G U:
renal hypoplasia

Limbs:
radial dysplasia
absent thumbs

G I:
t-e fistula
no anal atresia

Skel:
anal atresia
vertebral anomalies

Resp:
respiratory failure

Cardiac:
congenital heart defect

Misc:
stillbirth/neonatal death

Clinical features from OMIM®:

276950 (Updated 20-May-2021)

Drugs & Therapeutics for Vacterl Association with Hydrocephalus

Search Clinical Trials , NIH Clinical Center for Vacterl Association with Hydrocephalus

Genetic Tests for Vacterl Association with Hydrocephalus

Genetic tests related to Vacterl Association with Hydrocephalus:

# Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephalus 29

Anatomical Context for Vacterl Association with Hydrocephalus

MalaCards organs/tissues related to Vacterl Association with Hydrocephalus:

40
Heart, Bone Marrow, Bone

Publications for Vacterl Association with Hydrocephalus

Articles related to Vacterl Association with Hydrocephalus:

(show all 43)
# Title Authors PMID Year
1
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 57 61
16825431 2007
2
VATER and hydrocephalus: distinct syndrome? 57 61
2012132 1991
3
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 6
28475857 2017
4
KLLN epigenotype-phenotype associations in Cowden syndrome. 6
25669429 2015
5
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 6
24778394 2014
6
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 6
22628360 2012
7
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 6
17526800 2007
8
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 57
11748304 2001
9
VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance. 57
8172244 1994
10
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? 57
1415330 1992
11
VACTERL with hydrocephalus: further delineation of the syndrome(s) 57
2816994 1989
12
[Association of VACTERL and hydrocephalus: a new familial entity]. 57
6335367 1984
13
Genotype-phenotype associations in Fanconi anemia: A literature review. 61
31351673 2019
14
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. 61
29232005 2018
15
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. 61
28509418 2017
16
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. 61
27028275 2016
17
Syringomyelia in VACTERL-H association: a new neurological feature in an adult patient. 61
26194037 2016
18
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 61
26683739 2016
19
Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus. 61
26929876 2016
20
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone. 61
24311025 2014
21
VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. 61
24411047 2013
22
[VACTERL-H association with tibial agenesis. Expansion of the clinical phenotype?]. 61
23265720 2013
23
VACTERL-H Association and Fanconi Anemia. 61
23653579 2013
24
[Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome]. 61
22859335 2012
25
A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. 61
21653639 2011
26
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 61
21910217 2011
27
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 61
21465648 2011
28
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. 61
21138478 2011
29
VACTERL-H syndrome: first trimester diagnosis. 61
24592007 2011
30
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 61
19057916 2009
31
VACTERL-H associated with central hypothyroidism: a case report. 61
18019375 2007
32
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 61
16679491 2006
33
VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient. 61
15127761 2004
34
VACTERL-H syndrome. 61
12168129 2002
35
VACTERL manifestations in two generations of a family. 61
9916841 1999
36
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. 61
9572377 1998
37
VACTERL with hydrocephalus: family with X-linked VACTERL-H. 61
9508070 1998
38
Ventriculomegaly with radial and renal defects: prenatal diagnosis in two consecutive sibs. 61
9415680 1997
39
Fragile X syndrome in two siblings with major congenital malformations. 61
8725793 1996
40
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. 61
8882398 1996
41
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. 61
8741921 1996
42
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. 61
8368240 1993
43
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 61
8280876 1993

Variations for Vacterl Association with Hydrocephalus

ClinVar genetic disease variations for Vacterl Association with Hydrocephalus:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTEN NM_000314.7(PTEN):c.253+2T>A SNV Pathogenic 468676 rs1224040268 GRCh37: 10:89690848-89690848
GRCh38: 10:87931091-87931091
2 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
3 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic 7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
4 PTEN NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) SNV Pathogenic 216987 rs863224909 GRCh37: 10:89720709-89720709
GRCh38: 10:87960952-87960952
5 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
6 PTEN NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) SNV Likely pathogenic 428235 rs370795352 GRCh37: 10:89692920-89692920
GRCh38: 10:87933163-87933163
7 PTEN , KLLN NM_001126049.2(KLLN):c.-736G>C SNV Uncertain significance 488964 rs1554889801 GRCh37: 10:89622980-89622980
GRCh38: 10:87863223-87863223
8 PTEN , KLLN NM_001126049.2(KLLN):c.-792C>T SNV Uncertain significance 127663 rs587779982 GRCh37: 10:89623036-89623036
GRCh38: 10:87863279-87863279
9 PTEN , KLLN NM_001126049.2(KLLN):c.-828C>T SNV Uncertain significance 187362 rs786203674 GRCh37: 10:89623072-89623072
GRCh38: 10:87863315-87863315
10 PTEN , KLLN NM_001126049.2(KLLN):c.-1039G>A SNV Uncertain significance 127682 rs587779999 GRCh37: 10:89623283-89623283
GRCh38: 10:87863526-87863526
11 PTEN NM_000314.4(PTEN):c.-868G>C SNV Uncertain significance 141949 rs587782133 GRCh37: 10:89623358-89623358
GRCh38: 10:87863601-87863601
12 PTEN NM_000314.7(PTEN):c.-834C>T SNV Uncertain significance 127676 rs587779994 GRCh37: 10:89623392-89623392
GRCh38: 10:87863635-87863635
13 PTEN NM_000314.7(PTEN):c.-764G>A SNV Uncertain significance 7844 rs587776674 GRCh37: 10:89623462-89623462
GRCh38: 10:87863705-87863705
14 PTEN NM_000314.7(PTEN):c.-665G>A SNV Uncertain significance 189528 rs553371022 GRCh37: 10:89623561-89623561
GRCh38: 10:87863804-87863804
15 PTEN NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) SNV Uncertain significance 41682 rs202004587 GRCh37: 10:89690828-89690828
GRCh38: 10:87931071-87931071
16 PTEN NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) SNV Uncertain significance 127693 rs143335584 GRCh37: 10:89720731-89720731
GRCh38: 10:87960974-87960974
17 PTEN NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) SNV Uncertain significance 127695 rs371387815 GRCh37: 10:89720741-89720741
GRCh38: 10:87960984-87960984
18 PTEN NM_000314.7(PTEN):c.-821G>T SNV Uncertain significance 234510 rs587779993 GRCh37: 10:89623405-89623405
GRCh38: 10:87863648-87863648
19 PTEN NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) SNV Uncertain significance 484603 rs1554825528 GRCh37: 10:89720711-89720711
GRCh38: 10:87960954-87960954
20 SALL1 NM_002968.2(SALL1):c.602A>G (p.Gln201Arg) SNV Uncertain significance 633693 rs775143619 GRCh37: 16:51175531-51175531
GRCh38: 16:51141620-51141620
21 PTEN NM_001304718.2(PTEN):c.-541-5517C>G SNV Uncertain significance 7841 rs121909236 GRCh37: 10:89685286-89685286
GRCh38: 10:87925529-87925529
22 FANCB NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) SNV Uncertain significance 368034 rs1057515811 GRCh37: X:14883283-14883283
GRCh38: X:14865161-14865161
23 PTEN NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) SNV Uncertain significance 127696 rs587780007 GRCh37: 10:89720763-89720763
GRCh38: 10:87961006-87961006
24 FANCB NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) SNV Likely benign 368030 rs754552650 GRCh37: X:14882764-14882764
GRCh38: X:14864642-14864642
25 FANCB NM_001018113.3(FANCB):c.1327-3del Deletion Benign 93468 rs202067682 GRCh37: X:14868799-14868799
GRCh38: X:14850677-14850677

Expression for Vacterl Association with Hydrocephalus

Search GEO for disease gene expression data for Vacterl Association with Hydrocephalus.

Pathways for Vacterl Association with Hydrocephalus

GO Terms for Vacterl Association with Hydrocephalus

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 8.92 SALL1 PTEN KLLN FANCB

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 8.62 SALL1 PTEN

Sources for Vacterl Association with Hydrocephalus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....