MCID: VCT002
MIFTS: 11

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 54 30 6 41
Vacterl Association with Hydrocephalus 74
X-Linked Vacterl-H Syndrome 54

Classifications:



External Ids:

UMLS 74 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 hydrocephalus. An important gene associated with Vacterl Association with Hydrocephaly, X-Linked is ZIC3 (Zic Family Member 3). Related phenotype is Lamellipodia cells.

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 9.6 FANCB ZIC3
2 hydrocephalus 9.5 FANCB ZIC3

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.62 FANCB ZIC3

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

Genetic tests related to Vacterl Association with Hydrocephaly, X-Linked:

# Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephaly, X-Linked 30 FANCB ZIC3

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 Year
1
VACTERL association with hydrocephalus in a fetus conceived by inA vitro fertilization and embryo transfer. ( 24411047 )
2013
2
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996

Variations for Vacterl Association with Hydrocephaly, X-Linked

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

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh37 Chromosome X, 136648899: 136648899
2 ZIC3 NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs147232392 GRCh38 Chromosome X, 137566740: 137566740
3 ZIC3 NM_003413.3(ZIC3): c.649C> G (p.Pro217Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs104894963 GRCh37 Chromosome X, 136649499: 136649499
4 ZIC3 NM_003413.3(ZIC3): c.649C> G (p.Pro217Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs104894963 GRCh38 Chromosome X, 137567340: 137567340
5 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh37 Chromosome X, 136649015: 136649016
6 ZIC3 NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) insertion Pathogenic rs398122850 GRCh38 Chromosome X, 137566856: 137566857
7 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh37 Chromosome X, 136648981: 136648981
8 ZIC3 NM_003413.3(ZIC3): c.131C> G (p.Thr44Ser) single nucleotide variant Likely benign rs78870836 GRCh38 Chromosome X, 137566822: 137566822
9 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh37 Chromosome X, 136653769: 136653769
10 ZIC3 NM_003413.3(ZIC3): c.*1540G> A single nucleotide variant Likely benign rs184855783 GRCh38 Chromosome X, 137571610: 137571610
11 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh37 Chromosome X, 136648372: 136648372
12 ZIC3 NM_003413.3(ZIC3): c.-479C> T single nucleotide variant Uncertain significance rs1022475218 GRCh38 Chromosome X, 137566213: 137566213
13 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh37 Chromosome X, 136649756: 136649756
14 ZIC3 NM_003413.3(ZIC3): c.906C> T (p.Cys302=) single nucleotide variant Likely benign rs779221820 GRCh38 Chromosome X, 137567597: 137567597
15 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh37 Chromosome X, 136653418: 136653418
16 ZIC3 NM_003413.3(ZIC3): c.*1189A> G single nucleotide variant Likely benign rs41300285 GRCh38 Chromosome X, 137571259: 137571259
17 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh37 Chromosome X, 136653466: 136653466
18 ZIC3 NM_003413.3(ZIC3): c.*1237A> T single nucleotide variant Uncertain significance rs772508899 GRCh38 Chromosome X, 137571307: 137571307
19 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh37 Chromosome X, 136654253: 136654253
20 ZIC3 NM_003413.3(ZIC3): c.*2024G> C single nucleotide variant Likely benign rs113057036 GRCh38 Chromosome X, 137572094: 137572094
21 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh37 Chromosome X, 136652718: 136652718
22 ZIC3 NM_003413.3(ZIC3): c.*489A> G single nucleotide variant Likely benign rs183286584 GRCh38 Chromosome X, 137570559: 137570559
23 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh37 Chromosome X, 136653400: 136653402
24 ZIC3 NM_003413.3(ZIC3): c.*1171_*1173delTTT deletion Uncertain significance rs1057515786 GRCh38 Chromosome X, 137571241: 137571243
25 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh37 Chromosome X, 136652270: 136652270
26 ZIC3 NM_003413.3(ZIC3): c.*41A> G single nucleotide variant Likely benign rs12387258 GRCh38 Chromosome X, 137570111: 137570111
27 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs899320157 GRCh37 Chromosome X, 136653027: 136653031
28 ZIC3 NM_003413.3(ZIC3): c.*798_*802delTTTGT deletion Uncertain significance rs899320157 GRCh38 Chromosome X, 137570868: 137570872
29 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh37 Chromosome X, 136653944: 136653944
30 ZIC3 NM_003413.3(ZIC3): c.*1715A> G single nucleotide variant Uncertain significance rs1057515787 GRCh38 Chromosome X, 137571785: 137571785

Expression for Vacterl Association with Hydrocephaly, X-Linked

Search GEO for disease gene expression data for Vacterl Association with Hydrocephaly, X-Linked.

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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