MCID: VCT008
MIFTS: 32

Vacterl with Hydrocephalus

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

Aliases & Classifications for Vacterl with Hydrocephalus

MalaCards integrated aliases for Vacterl with Hydrocephalus:

Name: Vacterl with Hydrocephalus 58
Sujansky-Leonard Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
vacterl with hydrocephalus
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Vacterl with Hydrocephalus

MalaCards based summary : Vacterl with Hydrocephalus, also known as sujansky-leonard syndrome, is related to vacterl association with hydrocephalus and hydrocephalus. An important gene associated with Vacterl with Hydrocephalus is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways is Fanconi anemia pathway. Related phenotypes are intellectual disability and hydrocephalus

Related Diseases for Vacterl with Hydrocephalus

Diseases in the Vacterl with Hydrocephalus family:

Vacterl Association with Hydrocephalus

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephalus 31.7 PTEN FANCB
2 hydrocephalus 30.3 ZIC3 PTEN FANCB
3 fanconi anemia, complementation group b 30.1 FANCL FANCB
4 vater/vacterl association 30.0 ZIC3 FANCL
5 vacterl association with hydrocephaly, x-linked 29.9 ZIC3 FANCL
6 vacterl association, x-linked, with or without hydrocephalus 29.8 ZIC3 FANCL FANCB
7 fanconi anemia, complementation group c 29.5 FANCL FANCB
8 esophageal atresia 29.5 FANCL FANCB
9 fanconi anemia, complementation group a 29.4 PTEN FANCL FANCB
10 vacterl association 29.1 ZIC3 PTEN FANCL FANCB
11 tracheoesophageal fistula with or without esophageal atresia 10.0
12 renal hypodysplasia/aplasia 1 10.0
13 baller-gerold syndrome 10.0
14 hydrocephalus, congenital, 1 10.0
15 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
16 aplastic anemia 10.0
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
18 branchial arch defects 10.0
19 vacterl hydrocephaly 10.0
20 anus, imperforate 9.9 ZIC3 FANCB
21 fanconi anemia, complementation group u 9.8 FANCL FANCB
22 fanconi anemia, complementation group v 9.8 FANCL FANCB
23 fanconi anemia, complementation group r 9.8 FANCL FANCB
24 fanconi anemia, complementation group t 9.8 FANCL FANCB
25 fanconi anemia, complementation group o 9.8 FANCL FANCB
26 fanconi anemia, complementation group q 9.8 FANCL FANCB
27 fanconi anemia, complementation group p 9.8 FANCL FANCB
28 fanconi anemia, complementation group n 9.8 FANCL FANCB
29 fanconi anemia, complementation group d1 9.7 FANCL FANCB
30 fanconi anemia, complementation group j 9.7 FANCL FANCB
31 fanconi anemia, complementation group d2 9.6 FANCL FANCB
32 nijmegen breakage syndrome 9.6 PTEN FANCB

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



Diseases related to Vacterl with Hydrocephalus

Symptoms & Phenotypes for Vacterl with Hydrocephalus

Human phenotypes related to Vacterl with Hydrocephalus:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
3 aqueductal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002410
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
6 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
7 tracheoesophageal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0002575
8 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
9 esophageal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002032
10 renal agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000104
11 abnormality of the optic nerve 58 31 hallmark (90%) Very frequent (99-80%) HP:0000587
12 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
13 hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002984
14 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680
15 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
16 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
17 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
18 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
19 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
20 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
21 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
22 arrhinencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002139
23 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
24 single umbilical artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0001195
25 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
26 absence of the sacrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0010305
27 anotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009892
28 femoral hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100541
29 microtia, third degree 58 31 occasional (7.5%) Occasional (29-5%) HP:0011267
30 abnormal fallopian tube morphology 31 occasional (7.5%) HP:0011027
31 abnormal form of the vertebral bodies 58 Frequent (79-30%)
32 renal hypoplasia/aplasia 58 Very frequent (99-80%)
33 abnormality of the outer ear 58 Occasional (29-5%)
34 abnormality of the fallopian tube 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Vacterl with Hydrocephalus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 FANCB FANCL PTEN ZIC3
2 reproductive system MP:0005389 8.92 FANCB FANCL PTEN ZIC3

Drugs & Therapeutics for Vacterl with Hydrocephalus

Search Clinical Trials , NIH Clinical Center for Vacterl with Hydrocephalus

Genetic Tests for Vacterl with Hydrocephalus

Anatomical Context for Vacterl with Hydrocephalus

Publications for Vacterl with Hydrocephalus

Articles related to Vacterl with Hydrocephalus:

(show all 22)
# Title Authors PMID Year
1
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 6
28475857 2017
2
KLLN epigenotype-phenotype associations in Cowden syndrome. 6
25669429 2015
3
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 6
24778394 2014
4
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 6
22628360 2012
5
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 6
20452998 2010
6
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
7
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 6
2629409 1989
8
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 61
21910217 2011
9
VACTERL/VATER Association. 61
21846383 2011
10
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 61
16679491 2006
11
VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient. 61
15127761 2004
12
VACTERL with hydrocephalus and isolated tracheo-oesophageal fistula in a first cousin. 61
10826631 2000
13
VACTERL with hydrocephalus: family with X-linked VACTERL-H. 61
9508070 1998
14
VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene. 61
8986283 1997
15
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. 61
8882398 1996
16
VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance. 61
8172244 1994
17
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). 61
8172251 1994
18
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. 61
8368240 1993
19
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 61
8280876 1993
20
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. 61
8267927 1993
21
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? 61
1415330 1992
22
VACTERL with hydrocephalus: further delineation of the syndrome(s) 61
2816994 1989

Variations for Vacterl with Hydrocephalus

ClinVar genetic disease variations for Vacterl with Hydrocephalus:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZIC3 NM_003413.4(ZIC3):c.163_165GCC[3] (p.Ala54_Ala55dup) Microsatellite Pathogenic 29955 rs398122850 GRCh37: X:136649012-136649013
GRCh38: X:137566853-137566854
2 PTEN NM_000314.7(PTEN):c.253+2T>A SNV Pathogenic 468676 rs1224040268 GRCh37: 10:89690848-89690848
GRCh38: 10:87931091-87931091
3 PTEN NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) SNV Pathogenic 216987 rs863224909 GRCh37: 10:89720709-89720709
GRCh38: 10:87960952-87960952
4 PTEN NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) SNV Pathogenic 7833 rs121909231 GRCh37: 10:89720852-89720852
GRCh38: 10:87961095-87961095
5 FANCL NM_001114636.1(FANCL):c.430del (p.Ser144fs) Deletion Pathogenic 209077 rs869320685 GRCh37: 2:58431306-58431306
GRCh38: 2:58204171-58204171
6 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
7 PTEN NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) SNV Pathogenic 189500 rs121913293 GRCh37: 10:89711899-89711899
GRCh38: 10:87952142-87952142
8 PTEN NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) SNV Likely pathogenic 428235 rs370795352 GRCh37: 10:89692920-89692920
GRCh38: 10:87933163-87933163
9 ZIC3 NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) SNV Conflicting interpretations of pathogenicity 190129 rs147232392 GRCh37: X:136648899-136648899
GRCh38: X:137566740-137566740
10 FANCB NM_001018113.3(FANCB):c.952-13C>T SNV Uncertain significance 368028 rs1057515807 GRCh37: X:14877469-14877469
GRCh38: X:14859347-14859347
11 ZIC3 NM_003413.4(ZIC3):c.*1540G>A SNV Uncertain significance 367961 rs184855783 GRCh37: X:136653769-136653769
GRCh38: X:137571610-137571610
12 ZIC3 NM_003413.4(ZIC3):c.*798_*802del Deletion Uncertain significance 367957 rs899320157 GRCh37: X:136653023-136653027
GRCh38: X:137570864-137570868
13 ZIC3 NM_003413.4(ZIC3):c.*1171_*1173del Deletion Uncertain significance 367958 rs1057515786 GRCh37: X:136653400-136653402
GRCh38: X:137571241-137571243
14 ZIC3 NM_003413.4(ZIC3):c.*1237A>T SNV Uncertain significance 367960 rs772508899 GRCh37: X:136653466-136653466
GRCh38: X:137571307-137571307
15 ZIC3 NM_003413.4(ZIC3):c.-479C>T SNV Uncertain significance 367952 rs1022475218 GRCh37: X:136648372-136648372
GRCh38: X:137566213-137566213
16 FANCB NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) SNV Uncertain significance 368026 rs1057515805 GRCh37: X:14871222-14871222
GRCh38: X:14853100-14853100
17 FANCB NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) SNV Uncertain significance 368029 rs1057515808 GRCh37: X:14882719-14882719
GRCh38: X:14864597-14864597
18 FANCB NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) SNV Uncertain significance 368033 rs970828551 GRCh37: X:14883276-14883276
GRCh38: X:14865154-14865154
19 ZIC3 NM_003413.4(ZIC3):c.*1715A>G SNV Uncertain significance 367962 rs1057515787 GRCh37: X:136653944-136653944
GRCh38: X:137571785-137571785
20 FANCB NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) SNV Uncertain significance 368031 rs1057515809 GRCh37: X:14882851-14882851
GRCh38: X:14864729-14864729
21 ZIC3 NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) SNV Uncertain significance 367953 rs78870836 GRCh37: X:136648981-136648981
GRCh38: X:137566822-137566822
22 FANCB NM_001018113.3(FANCB):c.-230A>T SNV Uncertain significance 368038 rs1020271259 GRCh37: X:14891146-14891146
GRCh38: X:14873024-14873024
23 FANCB NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) SNV Uncertain significance 368027 rs956498867 GRCh37: X:14877330-14877330
GRCh38: X:14859208-14859208
24 PTEN , KLLN NM_001126049.2(KLLN):c.-736G>C SNV Uncertain significance 488964 rs1554889801 GRCh37: 10:89622980-89622980
GRCh38: 10:87863223-87863223
25 PTEN , KLLN NM_001126049.2(KLLN):c.-792C>T SNV Uncertain significance 127663 rs587779982 GRCh37: 10:89623036-89623036
GRCh38: 10:87863279-87863279
26 PTEN , KLLN NM_001126049.2(KLLN):c.-828C>T SNV Uncertain significance 187362 rs786203674 GRCh37: 10:89623072-89623072
GRCh38: 10:87863315-87863315
27 PTEN , KLLN NM_001126049.2(KLLN):c.-1039G>A SNV Uncertain significance 127682 rs587779999 GRCh37: 10:89623283-89623283
GRCh38: 10:87863526-87863526
28 PTEN NM_000314.4(PTEN):c.-868G>C SNV Uncertain significance 141949 rs587782133 GRCh37: 10:89623358-89623358
GRCh38: 10:87863601-87863601
29 PTEN NM_000314.7(PTEN):c.-821G>T SNV Uncertain significance 234510 rs587779993 GRCh37: 10:89623405-89623405
GRCh38: 10:87863648-87863648
30 PTEN NM_000314.7(PTEN):c.-764G>A SNV Uncertain significance 7844 rs587776674 GRCh37: 10:89623462-89623462
GRCh38: 10:87863705-87863705
31 PTEN NM_000314.7(PTEN):c.-665G>A SNV Uncertain significance 189528 rs553371022 GRCh37: 10:89623561-89623561
GRCh38: 10:87863804-87863804
32 FANCB NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) SNV Uncertain significance 368034 rs1057515811 GRCh37: X:14883283-14883283
GRCh38: X:14865161-14865161
33 FANCB NM_001018113.3(FANCB):c.-111A>G SNV Uncertain significance 913592 GRCh37: X:14887085-14887085
GRCh38: X:14868963-14868963
34 FANCB NM_001018113.3(FANCB):c.-219G>T SNV Uncertain significance 913986 GRCh37: X:14891135-14891135
GRCh38: X:14873013-14873013
35 ZIC3 NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) SNV Uncertain significance 914456 GRCh37: X:136649518-136649518
GRCh38: X:137567359-137567359
36 ZIC3 NM_003413.4(ZIC3):c.*153A>G SNV Uncertain significance 914968 GRCh37: X:136652382-136652382
GRCh38: X:137570223-137570223
37 ZIC3 NM_003413.4(ZIC3):c.*260T>C SNV Uncertain significance 914969 GRCh37: X:136652489-136652489
GRCh38: X:137570330-137570330
38 FANCB NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) SNV Uncertain significance 456183 rs761492600 GRCh37: X:14861942-14861942
GRCh38: X:14843820-14843820
39 FANCB NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) SNV Uncertain significance 408160 rs200303151 GRCh37: X:14863185-14863185
GRCh38: X:14845063-14845063
40 FANCB NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) SNV Uncertain significance 456180 rs761346761 GRCh37: X:14883434-14883434
GRCh38: X:14865312-14865312
41 FANCB NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) SNV Uncertain significance 912444 GRCh37: X:14862861-14862861
GRCh38: X:14844739-14844739
42 FANCB NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) SNV Uncertain significance 912445 GRCh37: X:14863253-14863253
GRCh38: X:14845131-14845131
43 FANCB NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) SNV Uncertain significance 912473 GRCh37: X:14882824-14882824
GRCh38: X:14864702-14864702
44 ZIC3 NM_003413.4(ZIC3):c.-424C>A SNV Uncertain significance 912970 GRCh37: X:136648427-136648427
GRCh38: X:137566268-137566268
45 ZIC3 NM_003413.4(ZIC3):c.-335C>T SNV Uncertain significance 912971 GRCh37: X:136648516-136648516
GRCh38: X:137566357-137566357
46 ZIC3 NM_003413.4(ZIC3):c.*750A>G SNV Uncertain significance 913012 GRCh37: X:136652979-136652979
GRCh38: X:137570820-137570820
47 ZIC3 NM_003413.4(ZIC3):c.-169A>C SNV Uncertain significance 912972 GRCh37: X:136648682-136648682
GRCh38: X:137566523-137566523
48 ZIC3 NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) SNV Uncertain significance 913334 GRCh37: X:136648966-136648966
GRCh38: X:137566807-137566807
49 ZIC3 NM_003413.4(ZIC3):c.*1362T>G SNV Uncertain significance 913013 GRCh37: X:136653591-136653591
GRCh38: X:137571432-137571432
50 ZIC3 NM_003413.4(ZIC3):c.*1492T>C SNV Uncertain significance 913382 GRCh37: X:136653721-136653721
GRCh38: X:137571562-137571562

Expression for Vacterl with Hydrocephalus

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

Pathways for Vacterl with Hydrocephalus

Pathways related to Vacterl with Hydrocephalus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 FANCL FANCB

GO Terms for Vacterl with Hydrocephalus

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.26 ZIC3 PTEN FANCL FANCB
2 Fanconi anaemia nuclear complex GO:0043240 8.62 FANCL FANCB

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 8.96 ZIC3 PTEN
2 interstrand cross-link repair GO:0036297 8.62 FANCL FANCB

Sources for Vacterl 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....