MCID: VCT008
MIFTS: 21

Vacterl with Hydrocephalus

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vacterl with Hydrocephalus

MalaCards integrated aliases for Vacterl with Hydrocephalus:

Name: Vacterl with Hydrocephalus 60
Sujansky-Leonard Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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 hydrocephalus and intellectual disability

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 11.6
2 hydrocephalus 10.4
3 fanconi anemia, complementation group a 10.1
4 histiocytosis-lymphadenopathy plus syndrome 10.0
5 branchial arch defects 10.0

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:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 aqueductal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002410
4 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
5 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
6 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
7 tracheoesophageal fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0002575
8 microcornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000482
9 esophageal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002032
10 renal agenesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000104
11 abnormality of the optic nerve 60 33 hallmark (90%) Very frequent (99-80%) HP:0000587
12 hemivertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0002937
13 abnormality of cardiovascular system morphology 60 33 frequent (33%) Frequent (79-30%) HP:0030680
14 hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0002984
15 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
16 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
17 retrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000278
18 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
19 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
20 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
21 arrhinencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002139
22 spina bifida 60 33 occasional (7.5%) Occasional (29-5%) HP:0002414
23 anophthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000528
24 pulmonary hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002089
25 single umbilical artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0001195
26 absence of the sacrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0010305
27 anotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0009892
28 abnormality of the fallopian tube 60 33 occasional (7.5%) Occasional (29-5%) HP:0011027
29 microtia, third degree 60 33 occasional (7.5%) Occasional (29-5%) HP:0011267
30 femoral hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100541
31 abnormal form of the vertebral bodies 60 Frequent (79-30%)
32 renal hypoplasia/aplasia 60 Very frequent (99-80%)
33 abnormality of the outer ear 60 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: family with X-linked VACTERL-H. ( 9508070 )
1998
4
VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene. ( 8986283 )
1997
5
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers. ( 8882398 )
1996
6
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. ( 8280876 )
1993
7
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 62)
# 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 PTEN NM_000314.7(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
4 PTEN NM_000314.7(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh38 Chromosome 10, 87931071: 87931071
5 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh37 Chromosome X, 14868806: 14868806
6 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh38 Chromosome X, 14850684: 14850684
7 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh37 Chromosome X, 14868799: 14868799
8 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh38 Chromosome X, 14850677: 14850677
9 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh37 Chromosome 10, 89720731: 89720731
10 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh38 Chromosome 10, 87960974: 87960974
11 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh37 Chromosome 10, 89720741: 89720741
12 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh38 Chromosome 10, 87960984: 87960984
13 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142959373 GRCh37 Chromosome X, 14863136: 14863136
14 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142959373 GRCh38 Chromosome X, 14845014: 14845014
15 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh37 Chromosome X, 14861817: 14861817
16 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh38 Chromosome X, 14843695: 14843695
17 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh37 Chromosome X, 14877404: 14877404
18 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh38 Chromosome X, 14859282: 14859282
19 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh38 Chromosome X, 14843736: 14843736
20 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh37 Chromosome X, 14861858: 14861858
21 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh38 Chromosome X, 14844966: 14844966
22 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh37 Chromosome X, 14863088: 14863088
23 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh38 Chromosome X, 14850507: 14850507
24 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh37 Chromosome X, 14868629: 14868629
25 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh38 Chromosome X, 14859347: 14859347
26 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh37 Chromosome X, 14877469: 14877469
27 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh37 Chromosome X, 14882764: 14882764
28 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh38 Chromosome X, 14864642: 14864642
29 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh37 Chromosome X, 14883276: 14883276
30 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh38 Chromosome X, 14865154: 14865154
31 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh37 Chromosome X, 14891145: 14891145
32 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh38 Chromosome X, 14873023: 14873023
33 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh37 Chromosome X, 14891148: 14891148
34 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh38 Chromosome X, 14873026: 14873026
35 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh38 Chromosome X, 14859208: 14859208
36 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh37 Chromosome X, 14877330: 14877330
37 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh37 Chromosome X, 14883564: 14883564
38 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh38 Chromosome X, 14865442: 14865442
39 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh37 Chromosome X, 14891146: 14891146
40 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh38 Chromosome X, 14873024: 14873024
41 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh38 Chromosome X, 14843534: 14843534
42 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh37 Chromosome X, 14861656: 14861656
43 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh38 Chromosome X, 14853055: 14853055
44 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh37 Chromosome X, 14871177: 14871177
45 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh37 Chromosome X, 14883231: 14883231
46 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh38 Chromosome X, 14865109: 14865109
47 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh37 Chromosome X, 14883283: 14883283
48 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh38 Chromosome X, 14865161: 14865161
49 FANCB NM_001018113.2(FANCB): c.*66T> G single nucleotide variant Likely benign rs143434225 GRCh38 Chromosome X, 14843501: 14843501
50 FANCB NM_001018113.2(FANCB): c.*66T> G single nucleotide variant Likely benign rs143434225 GRCh37 Chromosome X, 14861623: 14861623

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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