MCID: VCT008
MIFTS: 20

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 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 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 11.2
2 hydrocephalus 10.3
3 fanconi anemia, complementation group a 10.0
4 branchial arch defects 10.0

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 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 aqueductal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002410
4 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
5 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
6 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
7 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
9 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
10 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
11 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
12 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
13 arrhinencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002139
14 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
15 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
16 hemivertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002937
17 microcornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000482
18 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
19 esophageal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002032
20 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
21 abnormality of cardiovascular system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0030680
22 single umbilical artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0001195
23 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
24 renal agenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000104
25 absence of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0010305
26 abnormality of the optic nerve 59 32 hallmark (90%) Very frequent (99-80%) HP:0000587
27 abnormality of the fallopian tube 59 32 occasional (7.5%) Occasional (29-5%) HP:0011027
28 anotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009892
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 abnormal form of the vertebral bodies 59 Frequent (79-30%)
32 renal hypoplasia/aplasia 59 Very frequent (99-80%)
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 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
2 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh38 Chromosome 10, 87931071: 87931071
3 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh37 Chromosome X, 14868806: 14868806
4 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh38 Chromosome X, 14850684: 14850684
5 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh37 Chromosome X, 14868799: 14868799
6 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh38 Chromosome X, 14850677: 14850677
7 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh37 Chromosome 10, 89720731: 89720731
8 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Uncertain significance rs143335584 GRCh38 Chromosome 10, 87960974: 87960974
9 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh37 Chromosome 10, 89720741: 89720741
10 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh38 Chromosome 10, 87960984: 87960984
11 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh37 Chromosome X, 14868752: 14868752
12 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh38 Chromosome X, 14850630: 14850630
13 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign rs142959373 GRCh37 Chromosome X, 14863136: 14863136
14 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign 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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