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 PTEN (Phosphatase And Tensin Homolog). 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 31.6 FANCB PTEN
2 hydrocephalus 30.1 FANCB PTEN
3 fanconi anemia, complementation group b 10.2
4 fanconi anemia, complementation group a 10.1
5 histiocytosis-lymphadenopathy plus syndrome 10.0
6 branchial arch defects 10.0
7 congenital hydrocephalus 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: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. ( 8368240 )
1993
8
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 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh37 Chromosome 10, 89720852: 89720852
2 PTEN NM_000314.6(PTEN): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs121909231 GRCh38 Chromosome 10, 87961095: 87961095
3 PTEN NM_000314.4(PTEN): c.-764G> A single nucleotide variant Uncertain significance rs587776674 GRCh37 Chromosome 10, 89623462: 89623462
4 PTEN NM_000314.4(PTEN): c.-764G> A single nucleotide variant Uncertain significance rs587776674 GRCh38 Chromosome 10, 87863705: 87863705
5 PTEN NM_000314.7(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
6 PTEN NM_000314.7(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh38 Chromosome 10, 87931071: 87931071
7 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh37 Chromosome X, 14868806: 14868806
8 FANCB NM_001018113.2(FANCB): c.1327-10T> C single nucleotide variant Benign rs2905223 GRCh38 Chromosome X, 14850684: 14850684
9 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh37 Chromosome X, 14868799: 14868799
10 FANCB NM_001018113.2(FANCB): c.1327-3delT deletion Benign rs202067682 GRCh38 Chromosome X, 14850677: 14850677
11 PTEN NM_000314.4(PTEN): c.-1190G> A single nucleotide variant Uncertain significance rs587779982 GRCh37 Chromosome 10, 89623036: 89623036
12 PTEN NM_000314.4(PTEN): c.-1190G> A single nucleotide variant Uncertain significance rs587779982 GRCh38 Chromosome 10, 87863279: 87863279
13 PTEN NM_000314.4(PTEN): c.-834C> T single nucleotide variant Uncertain significance rs587779994 GRCh37 Chromosome 10, 89623392: 89623392
14 PTEN NM_000314.4(PTEN): c.-834C> T single nucleotide variant Uncertain significance rs587779994 GRCh38 Chromosome 10, 87863635: 87863635
15 PTEN NM_000314.4(PTEN): c.-943C> T single nucleotide variant Uncertain significance rs587779999 GRCh37 Chromosome 10, 89623283: 89623283
16 PTEN NM_000314.4(PTEN): c.-943C> T single nucleotide variant Uncertain significance rs587779999 GRCh38 Chromosome 10, 87863526: 87863526
17 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143335584 GRCh37 Chromosome 10, 89720731: 89720731
18 PTEN NM_000314.6(PTEN): c.882T> G (p.Ser294Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143335584 GRCh38 Chromosome 10, 87960974: 87960974
19 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh37 Chromosome 10, 89720741: 89720741
20 PTEN NM_000314.6(PTEN): c.892C> G (p.Gln298Glu) single nucleotide variant Uncertain significance rs371387815 GRCh38 Chromosome 10, 87960984: 87960984
21 PTEN NM_000314.6(PTEN): c.914G> A (p.Ser305Asn) single nucleotide variant Uncertain significance rs587780007 GRCh37 Chromosome 10, 89720763: 89720763
22 PTEN NM_000314.6(PTEN): c.914G> A (p.Ser305Asn) single nucleotide variant Uncertain significance rs587780007 GRCh38 Chromosome 10, 87961006: 87961006
23 PTEN NM_000314.4(PTEN): c.-868G> C single nucleotide variant Uncertain significance rs587782133 GRCh37 Chromosome 10, 89623358: 89623358
24 PTEN NM_000314.4(PTEN): c.-868G> C single nucleotide variant Uncertain significance rs587782133 GRCh38 Chromosome 10, 87863601: 87863601
25 PTEN NM_000314.4(PTEN): c.-1154G> A single nucleotide variant Uncertain significance rs786203674 GRCh37 Chromosome 10, 89623072: 89623072
26 PTEN NM_000314.4(PTEN): c.-1154G> A single nucleotide variant Uncertain significance rs786203674 GRCh38 Chromosome 10, 87863315: 87863315
27 PTEN NM_000314.6(PTEN): c.-665G> A single nucleotide variant Uncertain significance rs553371022 GRCh37 Chromosome 10, 89623561: 89623561
28 PTEN NM_000314.6(PTEN): c.-665G> A single nucleotide variant Uncertain significance rs553371022 GRCh38 Chromosome 10, 87863804: 87863804
29 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs121913293 GRCh37 Chromosome 10, 89711899: 89711899
30 PTEN NM_000314.6(PTEN): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs121913293 GRCh38 Chromosome 10, 87952142: 87952142
31 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh37 Chromosome X, 14868752: 14868752
32 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh38 Chromosome X, 14850630: 14850630
33 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224909 GRCh38 Chromosome 10, 87960952: 87960952
34 PTEN NM_000314.6(PTEN): c.860C> G (p.Ser287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224909 GRCh37 Chromosome 10, 89720709: 89720709
35 PTEN NM_000314.4(PTEN): c.-821G> T single nucleotide variant Uncertain significance rs587779993 GRCh38 Chromosome 10, 87863648: 87863648
36 PTEN NM_000314.4(PTEN): c.-821G> T single nucleotide variant Uncertain significance rs587779993 GRCh37 Chromosome 10, 89623405: 89623405
37 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142959373 GRCh37 Chromosome X, 14863136: 14863136
38 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142959373 GRCh38 Chromosome X, 14845014: 14845014
39 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh37 Chromosome X, 14861817: 14861817
40 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh38 Chromosome X, 14843695: 14843695
41 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh37 Chromosome X, 14877404: 14877404
42 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh38 Chromosome X, 14859282: 14859282
43 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh38 Chromosome X, 14843736: 14843736
44 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh37 Chromosome X, 14861858: 14861858
45 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh38 Chromosome X, 14844966: 14844966
46 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh37 Chromosome X, 14863088: 14863088
47 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh38 Chromosome X, 14850507: 14850507
48 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh37 Chromosome X, 14868629: 14868629
49 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh38 Chromosome X, 14859347: 14859347
50 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh37 Chromosome X, 14877469: 14877469

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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