MCID: VCT002
MIFTS: 15

Vacterl Association with Hydrocephaly, X-Linked

Categories: Rare diseases

Aliases & Classifications for Vacterl Association with Hydrocephaly, X-Linked

MalaCards integrated aliases for Vacterl Association with Hydrocephaly, X-Linked:

Name: Vacterl Association with Hydrocephaly, X-Linked 20 6 39
Vacterl Association with Hydrocephalus 70
X-Linked Vacterl-H Syndrome 20

Classifications:



External Ids:

UMLS 70 C1848599

Summaries for Vacterl Association with Hydrocephaly, X-Linked

MalaCards based summary : Vacterl Association with Hydrocephaly, X-Linked, also known as vacterl association with hydrocephalus, is related to vacterl association and vacterl with hydrocephalus. An important gene associated with Vacterl Association with Hydrocephaly, X-Linked is FANCL (FA Complementation Group L). Related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Vacterl Association with Hydrocephaly, X-Linked

Diseases related to Vacterl Association with Hydrocephaly, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vacterl association 9.7 ZIC3 FANCL
2 vacterl with hydrocephalus 9.6 ZIC3 FANCL
3 vater/vacterl association 9.6 ZIC3 FANCL
4 vacterl association, x-linked, with or without hydrocephalus 9.5 ZIC3 FANCL

Symptoms & Phenotypes for Vacterl Association with Hydrocephaly, X-Linked

GenomeRNAi Phenotypes related to Vacterl Association with Hydrocephaly, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.8 ZIC3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 ZIC3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 FANCL

Drugs & Therapeutics for Vacterl Association with Hydrocephaly, X-Linked

Search Clinical Trials , NIH Clinical Center for Vacterl Association with Hydrocephaly, X-Linked

Genetic Tests for Vacterl Association with Hydrocephaly, X-Linked

Anatomical Context for Vacterl Association with Hydrocephaly, X-Linked

Publications for Vacterl Association with Hydrocephaly, X-Linked

Articles related to Vacterl Association with Hydrocephaly, X-Linked:

# Title Authors PMID Year
1
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? 6
20452998 2010
2
[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 6
2629409 1989
3
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 61
16679491 2006
4
VACTERL with hydrocephalus: family with X-linked VACTERL-H. 61
9508070 1998

Variations for Vacterl Association with Hydrocephaly, X-Linked

ClinVar genetic disease variations for Vacterl Association with Hydrocephaly, X-Linked:

6 (show top 50) (show all 73)
# 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 FANCL NM_001114636.1(FANCL):c.430del (p.Ser144fs) Deletion Pathogenic 209077 rs869320685 GRCh37: 2:58431306-58431306
GRCh38: 2:58204171-58204171
3 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
4 FANCB NM_001018113.3(FANCB):c.952-13C>T SNV Uncertain significance 368028 rs1057515807 GRCh37: X:14877469-14877469
GRCh38: X:14859347-14859347
5 ZIC3 NM_003413.4(ZIC3):c.*1540G>A SNV Uncertain significance 367961 rs184855783 GRCh37: X:136653769-136653769
GRCh38: X:137571610-137571610
6 ZIC3 NM_003413.4(ZIC3):c.*798_*802del Deletion Uncertain significance 367957 rs899320157 GRCh37: X:136653023-136653027
GRCh38: X:137570864-137570868
7 ZIC3 NM_003413.4(ZIC3):c.*1171_*1173del Deletion Uncertain significance 367958 rs1057515786 GRCh37: X:136653400-136653402
GRCh38: X:137571241-137571243
8 ZIC3 NM_003413.4(ZIC3):c.*1237A>T SNV Uncertain significance 367960 rs772508899 GRCh37: X:136653466-136653466
GRCh38: X:137571307-137571307
9 ZIC3 NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser) SNV Uncertain significance 367953 rs78870836 GRCh37: X:136648981-136648981
GRCh38: X:137566822-137566822
10 FANCB NM_001018113.3(FANCB):c.-230A>T SNV Uncertain significance 368038 rs1020271259 GRCh37: X:14891146-14891146
GRCh38: X:14873024-14873024
11 ZIC3 NM_003413.4(ZIC3):c.*1715A>G SNV Uncertain significance 367962 rs1057515787 GRCh37: X:136653944-136653944
GRCh38: X:137571785-137571785
12 FANCB NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) SNV Uncertain significance 368031 rs1057515809 GRCh37: X:14882851-14882851
GRCh38: X:14864729-14864729
13 ZIC3 NM_003413.4(ZIC3):c.-479C>T SNV Uncertain significance 367952 rs1022475218 GRCh37: X:136648372-136648372
GRCh38: X:137566213-137566213
14 FANCB NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) SNV Uncertain significance 368026 rs1057515805 GRCh37: X:14871222-14871222
GRCh38: X:14853100-14853100
15 FANCB NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) SNV Uncertain significance 408160 rs200303151 GRCh37: X:14863185-14863185
GRCh38: X:14845063-14845063
16 FANCB NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) SNV Uncertain significance 456180 rs761346761 GRCh37: X:14883434-14883434
GRCh38: X:14865312-14865312
17 FANCB NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) SNV Uncertain significance 912444 GRCh37: X:14862861-14862861
GRCh38: X:14844739-14844739
18 FANCB NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) SNV Uncertain significance 912445 GRCh37: X:14863253-14863253
GRCh38: X:14845131-14845131
19 FANCB NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) SNV Uncertain significance 912473 GRCh37: X:14882824-14882824
GRCh38: X:14864702-14864702
20 FANCB NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) SNV Uncertain significance 456183 rs761492600 GRCh37: X:14861942-14861942
GRCh38: X:14843820-14843820
21 FANCB NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) SNV Uncertain significance 913590 GRCh37: X:14883437-14883437
GRCh38: X:14865315-14865315
22 FANCB NM_001018113.3(FANCB):c.-111A>G SNV Uncertain significance 913592 GRCh37: X:14887085-14887085
GRCh38: X:14868963-14868963
23 FANCB NM_001018113.3(FANCB):c.-219G>T SNV Uncertain significance 913986 GRCh37: X:14891135-14891135
GRCh38: X:14873013-14873013
24 ZIC3 NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) SNV Uncertain significance 914456 GRCh37: X:136649518-136649518
GRCh38: X:137567359-137567359
25 FANCB NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) SNV Uncertain significance 913897 GRCh37: X:14861896-14861896
GRCh38: X:14843774-14843774
26 FANCB NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) SNV Uncertain significance 913944 GRCh37: X:14876002-14876002
GRCh38: X:14857880-14857880
27 ZIC3 NM_003413.4(ZIC3):c.*153A>G SNV Uncertain significance 914968 GRCh37: X:136652382-136652382
GRCh38: X:137570223-137570223
28 ZIC3 NM_003413.4(ZIC3):c.*260T>C SNV Uncertain significance 914969 GRCh37: X:136652489-136652489
GRCh38: X:137570330-137570330
29 FANCB NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) SNV Uncertain significance 368027 rs956498867 GRCh37: X:14877330-14877330
GRCh38: X:14859208-14859208
30 FANCB NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) SNV Uncertain significance 368029 rs1057515808 GRCh37: X:14882719-14882719
GRCh38: X:14864597-14864597
31 ZIC3 NM_003413.4(ZIC3):c.-424C>A SNV Uncertain significance 912970 GRCh37: X:136648427-136648427
GRCh38: X:137566268-137566268
32 ZIC3 NM_003413.4(ZIC3):c.-335C>T SNV Uncertain significance 912971 GRCh37: X:136648516-136648516
GRCh38: X:137566357-137566357
33 ZIC3 NM_003413.4(ZIC3):c.*750A>G SNV Uncertain significance 913012 GRCh37: X:136652979-136652979
GRCh38: X:137570820-137570820
34 ZIC3 NM_003413.4(ZIC3):c.-169A>C SNV Uncertain significance 912972 GRCh37: X:136648682-136648682
GRCh38: X:137566523-137566523
35 ZIC3 NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu) SNV Uncertain significance 913334 GRCh37: X:136648966-136648966
GRCh38: X:137566807-137566807
36 ZIC3 NM_003413.4(ZIC3):c.*1362T>G SNV Uncertain significance 913013 GRCh37: X:136653591-136653591
GRCh38: X:137571432-137571432
37 ZIC3 NM_003413.4(ZIC3):c.*1492T>C SNV Uncertain significance 913382 GRCh37: X:136653721-136653721
GRCh38: X:137571562-137571562
38 ZIC3 NM_003413.4(ZIC3):c.*1581G>A SNV Uncertain significance 913383 GRCh37: X:136653810-136653810
GRCh38: X:137571651-137571651
39 FANCB NM_001018113.3(FANCB):c.*151A>G SNV Uncertain significance 912396 GRCh37: X:14861538-14861538
GRCh38: X:14843416-14843416
40 FANCB NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) SNV Uncertain significance 368033 rs970828551 GRCh37: X:14883276-14883276
GRCh38: X:14865154-14865154
41 FANCB NM_001018113.3(FANCB):c.183C>T (p.Ser61=) SNV Uncertain significance 913591 GRCh37: X:14883450-14883450
GRCh38: X:14865328-14865328
42 FANCB NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) SNV Likely benign 572694 rs140363445 GRCh37: X:14861927-14861927
GRCh38: X:14843805-14843805
43 ZIC3 NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) SNV Likely benign 11439 rs104894963 GRCh37: X:136649499-136649499
GRCh38: X:137567340-137567340
44 FANCB NM_001018113.3(FANCB):c.402A>G (p.Leu134=) SNV Likely benign 368032 rs147260208 GRCh37: X:14883231-14883231
GRCh38: X:14865109-14865109
45 FANCB NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) SNV Likely benign 368023 rs148560784 GRCh37: X:14863088-14863088
GRCh38: X:14844966-14844966
46 FANCB NM_001018113.3(FANCB):c.-232G>A SNV Likely benign 368039 rs756766337 GRCh37: X:14891148-14891148
GRCh38: X:14873026-14873026
47 FANCB NM_001018113.3(FANCB):c.-173G>C SNV Benign 368036 rs2188383 GRCh37: X:14887147-14887147
GRCh38: X:14869025-14869025
48 ZIC3 NM_003413.4(ZIC3):c.*489A>G SNV Benign 367956 rs183286584 GRCh37: X:136652718-136652718
GRCh38: X:137570559-137570559
49 FANCB NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) SNV Benign 368025 rs772802668 GRCh37: X:14871177-14871177
GRCh38: X:14853055-14853055
50 ZIC3 NM_003413.4(ZIC3):c.*1189A>G SNV Benign 367959 rs41300285 GRCh37: X:136653418-136653418
GRCh38: X:137571259-137571259

Expression for Vacterl Association with Hydrocephaly, X-Linked

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Pathways for Vacterl Association with Hydrocephaly, X-Linked

GO Terms for Vacterl Association with Hydrocephaly, X-Linked

Sources for Vacterl Association with Hydrocephaly, X-Linked

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