MCID: VCT008
MIFTS: 20

Vacterl with Hydrocephalus

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Vacterl with Hydrocephalus

MalaCards integrated aliases for Vacterl with Hydrocephalus:

Name: Vacterl with Hydrocephalus 59
Sujansky-Leonard Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
vacterl with hydrocephalus
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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 FANCB (FA Complementation Group B). Related phenotypes are renal agenesis and hydrocephalus

Related Diseases for Vacterl with Hydrocephalus

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

# Related Disease Score Top Affiliating Genes
1 vacterl association with hydrocephalus 11.1
2 hydrocephalus 10.1
3 fanconi anemia, complementation group a 9.8
4 branchial arch defects 9.8

Symptoms & Phenotypes for Vacterl with Hydrocephalus

Human phenotypes related to Vacterl with Hydrocephalus:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000104
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 microcornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000482
4 abnormality of the optic nerve 59 32 hallmark (90%) Very frequent (99-80%) HP:0000587
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
7 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
8 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
9 esophageal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002032
10 aqueductal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002410
11 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
12 hemivertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002937
13 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
14 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
15 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
16 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
18 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
19 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
20 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
21 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
22 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
23 arrhinencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002139
24 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
25 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
26 anotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009892
27 absence of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0010305
28 abnormality of the fallopian tube 59 32 occasional (7.5%) Occasional (29-5%) HP:0011027
29 microtia, third degree 59 32 occasional (7.5%) Occasional (29-5%) HP:0011267
30 femoral hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100541
31 renal hypoplasia/aplasia 59 Very frequent (99-80%)
32 abnormal form of the vertebral bodies 59 Frequent (79-30%)
33 abnormality of the outer ear 59 Occasional (29-5%)

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:

# Title Authors Year
1
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. ( 21910217 )
2011
2
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. ( 16679491 )
2006
3
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. ( 8882398 )
1996
4
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? ( 1415330 )
1992

Variations for Vacterl with Hydrocephalus

ClinVar genetic disease variations for Vacterl with Hydrocephalus:

6
(show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh37 Chromosome X, 14868752: 14868752
2 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh38 Chromosome X, 14850630: 14850630
3 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign rs142959373 GRCh37 Chromosome X, 14863136: 14863136
4 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign rs142959373 GRCh38 Chromosome X, 14845014: 14845014
5 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh37 Chromosome X, 14861817: 14861817
6 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh38 Chromosome X, 14843695: 14843695
7 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh37 Chromosome X, 14877404: 14877404
8 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh38 Chromosome X, 14859282: 14859282
9 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh38 Chromosome X, 14843736: 14843736
10 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh37 Chromosome X, 14861858: 14861858
11 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh38 Chromosome X, 14844966: 14844966
12 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh37 Chromosome X, 14863088: 14863088
13 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh38 Chromosome X, 14850507: 14850507
14 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh37 Chromosome X, 14868629: 14868629
15 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh38 Chromosome X, 14859347: 14859347
16 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh37 Chromosome X, 14877469: 14877469
17 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh37 Chromosome X, 14882764: 14882764
18 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh38 Chromosome X, 14864642: 14864642
19 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh37 Chromosome X, 14883276: 14883276
20 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh38 Chromosome X, 14865154: 14865154
21 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh37 Chromosome X, 14891145: 14891145
22 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh38 Chromosome X, 14873023: 14873023
23 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh37 Chromosome X, 14891148: 14891148
24 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh38 Chromosome X, 14873026: 14873026
25 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh38 Chromosome X, 14859208: 14859208
26 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh37 Chromosome X, 14877330: 14877330
27 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh37 Chromosome X, 14883564: 14883564
28 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh38 Chromosome X, 14865442: 14865442
29 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh37 Chromosome X, 14891146: 14891146
30 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh38 Chromosome X, 14873024: 14873024
31 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh38 Chromosome X, 14843534: 14843534
32 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh37 Chromosome X, 14861656: 14861656
33 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh38 Chromosome X, 14853055: 14853055
34 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh37 Chromosome X, 14871177: 14871177
35 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh37 Chromosome X, 14883231: 14883231
36 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh38 Chromosome X, 14865109: 14865109
37 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh37 Chromosome X, 14883283: 14883283
38 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh38 Chromosome X, 14865161: 14865161
39 FANCB NM_001018113.2(FANCB): c.*66T> G single nucleotide variant Likely benign rs143434225 GRCh38 Chromosome X, 14843501: 14843501
40 FANCB NM_001018113.2(FANCB): c.*66T> G single nucleotide variant Likely benign rs143434225 GRCh37 Chromosome X, 14861623: 14861623
41 FANCB NM_001018113.2(FANCB): c.*14T> C single nucleotide variant Benign rs2375726 GRCh38 Chromosome X, 14843553: 14843553
42 FANCB NM_001018113.2(FANCB): c.*14T> C single nucleotide variant Benign rs2375726 GRCh37 Chromosome X, 14861675: 14861675
43 FANCB NM_001018113.2(FANCB): c.2311A> G (p.Ser771Gly) single nucleotide variant Benign/Likely benign rs750381270 GRCh38 Chromosome X, 14843836: 14843836
44 FANCB NM_001018113.2(FANCB): c.2311A> G (p.Ser771Gly) single nucleotide variant Benign/Likely benign rs750381270 GRCh37 Chromosome X, 14861958: 14861958
45 FANCB NM_001018113.2(FANCB): c.1265C> T (p.Ser422Phe) single nucleotide variant Uncertain significance rs1057515805 GRCh38 Chromosome X, 14853100: 14853100
46 FANCB NM_001018113.2(FANCB): c.1265C> T (p.Ser422Phe) single nucleotide variant Uncertain significance rs1057515805 GRCh37 Chromosome X, 14871222: 14871222
47 FANCB NM_001018113.2(FANCB): c.914C> A (p.Ser305Tyr) single nucleotide variant Uncertain significance rs1057515808 GRCh38 Chromosome X, 14864597: 14864597
48 FANCB NM_001018113.2(FANCB): c.914C> A (p.Ser305Tyr) single nucleotide variant Uncertain significance rs1057515808 GRCh37 Chromosome X, 14882719: 14882719
49 FANCB NM_001018113.2(FANCB): c.782G> A (p.Arg261Gln) single nucleotide variant Uncertain significance rs1057515809 GRCh37 Chromosome X, 14882851: 14882851
50 FANCB NM_001018113.2(FANCB): c.782G> A (p.Arg261Gln) single nucleotide variant Uncertain significance rs1057515809 GRCh38 Chromosome X, 14864729: 14864729

Expression for Vacterl with Hydrocephalus

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

Pathways for Vacterl with Hydrocephalus

GO Terms for Vacterl with Hydrocephalus

Sources for Vacterl with Hydrocephalus

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