VACTERL-H
MCID: VCT004
MIFTS: 25

Vacterl Association with Hydrocephalus (VACTERL-H)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Vacterl Association with Hydrocephalus

MalaCards integrated aliases for Vacterl Association with Hydrocephalus:

Name: Vacterl Association with Hydrocephalus 57 75 29 6 73
Vater Association with Macrocephaly and Ventriculomegaly 57 29 13 6
Vacterl-H 57 75

Characteristics:

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
vacterl association with hydrocephalus:
Mortality/Aging stillbirth


Classifications:



Summaries for Vacterl Association with Hydrocephalus

OMIM : 57 VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515). (276950)

MalaCards based summary : Vacterl Association with Hydrocephalus, also known as vater association with macrocephaly and ventriculomegaly, is related to hydrocephalus and vacterl association, x-linked, with or without hydrocephalus. An important gene associated with Vacterl Association with Hydrocephalus is PTEN (Phosphatase And Tensin Homolog). Affiliated tissues include heart, and related phenotypes are hydrocephalus and respiratory insufficiency

UniProtKB/Swiss-Prot : 75 VACTERL association with hydrocephalus: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.

Related Diseases for Vacterl Association with Hydrocephalus

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 29.6 FANCB PTEN
2 vacterl association, x-linked, with or without hydrocephalus 11.7
3 vacterl association with hydrocephaly, x-linked 11.7
4 vacterl hydrocephaly 11.7
5 vater/vacterl association 11.6
6 fanconi anemia, complementation group b 11.3
7 vacterl association 10.1
8 hypothyroidism 10.0
9 syringomyelia 10.0
10 heterotaxy 10.0
11 sirenomelia 10.0
12 baller-gerold syndrome 10.0
13 fanconi anemia, complementation group a 10.0

Graphical network of the top 20 diseases related to Vacterl Association with Hydrocephalus:



Diseases related to Vacterl Association with Hydrocephalus

Symptoms & Phenotypes for Vacterl Association with Hydrocephalus

Symptoms via clinical synopsis from OMIM:

57
Neuro:
hydrocephalus
aqueductal stenosis

Skel:
anal atresia
vertebral anomalies

Cardiac:
congenital heart defect

G I:
t-e fistula
no anal atresia

Resp:
respiratory failure

G U:
renal hypoplasia

Limbs:
absent thumbs
radial dysplasia

Misc:
stillbirth/neonatal death


Clinical features from OMIM:

276950

Human phenotypes related to Vacterl Association with Hydrocephalus:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 respiratory insufficiency 32 HP:0002093
3 aqueductal stenosis 32 HP:0002410
4 abnormal vertebral morphology 32 HP:0003468
5 respiratory failure 32 HP:0002878
6 anal atresia 32 HP:0002023
7 renal hypoplasia 32 HP:0000089
8 abnormality of cardiovascular system morphology 32 HP:0030680
9 abnormality of the vertebral column 32 HP:0000925
10 radial club hand 32 HP:0004059
11 abnormal heart morphology 32 HP:0001627
12 absent thumb 32 HP:0009777

Drugs & Therapeutics for Vacterl Association with Hydrocephalus

Search Clinical Trials , NIH Clinical Center for Vacterl Association with Hydrocephalus

Genetic Tests for Vacterl Association with Hydrocephalus

Genetic tests related to Vacterl Association with Hydrocephalus:

# Genetic test Affiliating Genes
1 Vacterl Association with Hydrocephalus 29 PTEN
2 Vater Association with Macrocephaly and Ventriculomegaly 29

Anatomical Context for Vacterl Association with Hydrocephalus

MalaCards organs/tissues related to Vacterl Association with Hydrocephalus:

41
Heart

Publications for Vacterl Association with Hydrocephalus

Articles related to Vacterl Association with Hydrocephalus:

# 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 Hydrocephalus

ClinVar genetic disease variations for Vacterl Association with Hydrocephalus:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.181C> G (p.His61Asp) single nucleotide variant Uncertain significance rs121909236 GRCh37 Chromosome 10, 89685286: 89685286
2 PTEN NM_000314.6(PTEN): c.181C> G (p.His61Asp) single nucleotide variant Uncertain significance rs121909236 GRCh38 Chromosome 10, 87925529: 87925529
3 PTEN NM_000314.6(PTEN): c.235G> A (p.Ala79Thr) single nucleotide variant Likely benign rs202004587 GRCh37 Chromosome 10, 89690828: 89690828
4 PTEN NM_000314.6(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.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh37 Chromosome X, 14868752: 14868752
14 FANCB NM_001018113.2(FANCB): c.1371C> T (p.Val457=) single nucleotide variant Conflicting interpretations of pathogenicity rs149695930 GRCh38 Chromosome X, 14850630: 14850630
15 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign rs142959373 GRCh37 Chromosome X, 14863136: 14863136
16 FANCB NM_001018113.2(FANCB): c.1769T> C (p.Phe590Ser) single nucleotide variant Benign/Likely benign rs142959373 GRCh38 Chromosome X, 14845014: 14845014
17 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh37 Chromosome X, 14861817: 14861817
18 FANCB NM_001018113.2(FANCB): c.2452A> G (p.Arg818Gly) single nucleotide variant Benign/Likely benign rs143131218 GRCh38 Chromosome X, 14843695: 14843695
19 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh37 Chromosome X, 14877404: 14877404
20 FANCB NM_001018113.2(FANCB): c.1004G> A (p.Gly335Glu) single nucleotide variant Benign rs41309679 GRCh38 Chromosome X, 14859282: 14859282
21 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh38 Chromosome X, 14843736: 14843736
22 FANCB NM_001018113.2(FANCB): c.2411A> G (p.Asp804Gly) single nucleotide variant Likely benign rs148257882 GRCh37 Chromosome X, 14861858: 14861858
23 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh38 Chromosome X, 14844966: 14844966
24 FANCB NM_001018113.2(FANCB): c.1817G> A (p.Ser606Asn) single nucleotide variant Uncertain significance rs148560784 GRCh37 Chromosome X, 14863088: 14863088
25 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh38 Chromosome X, 14850507: 14850507
26 FANCB NM_001018113.2(FANCB): c.1494G> T (p.Lys498Asn) single nucleotide variant Benign/Likely benign rs199510538 GRCh37 Chromosome X, 14868629: 14868629
27 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh38 Chromosome X, 14859347: 14859347
28 FANCB NM_001018113.2(FANCB): c.952-13C> T single nucleotide variant Uncertain significance rs1057515807 GRCh37 Chromosome X, 14877469: 14877469
29 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh37 Chromosome X, 14882764: 14882764
30 FANCB NM_001018113.2(FANCB): c.869T> C (p.Met290Thr) single nucleotide variant Benign/Likely benign rs754552650 GRCh38 Chromosome X, 14864642: 14864642
31 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh37 Chromosome X, 14883276: 14883276
32 FANCB NM_001018113.2(FANCB): c.357A> T (p.Glu119Asp) single nucleotide variant Uncertain significance rs970828551 GRCh38 Chromosome X, 14865154: 14865154
33 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh37 Chromosome X, 14891145: 14891145
34 FANCB NM_001018113.2(FANCB): c.-229T> G single nucleotide variant Benign rs149617434 GRCh38 Chromosome X, 14873023: 14873023
35 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh37 Chromosome X, 14891148: 14891148
36 FANCB NM_001018113.2(FANCB): c.-232G> A single nucleotide variant Likely benign rs756766337 GRCh38 Chromosome X, 14873026: 14873026
37 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh38 Chromosome X, 14859208: 14859208
38 FANCB NM_001018113.2(FANCB): c.1078A> G (p.Thr360Ala) single nucleotide variant Uncertain significance rs956498867 GRCh37 Chromosome X, 14877330: 14877330
39 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh37 Chromosome X, 14883564: 14883564
40 FANCB NM_001018113.2(FANCB): c.69T> C (p.Leu23=) single nucleotide variant Likely benign rs151173533 GRCh38 Chromosome X, 14865442: 14865442
41 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh37 Chromosome X, 14891146: 14891146
42 FANCB NM_001018113.2(FANCB): c.-230A> T single nucleotide variant Uncertain significance rs1020271259 GRCh38 Chromosome X, 14873024: 14873024
43 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh38 Chromosome X, 14843534: 14843534
44 FANCB NM_001018113.2(FANCB): c.*33T> C single nucleotide variant Likely benign rs187611308 GRCh37 Chromosome X, 14861656: 14861656
45 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh38 Chromosome X, 14853055: 14853055
46 FANCB NM_001018113.2(FANCB): c.1310C> T (p.Thr437Met) single nucleotide variant Likely benign rs772802668 GRCh37 Chromosome X, 14871177: 14871177
47 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh37 Chromosome X, 14883231: 14883231
48 FANCB NM_001018113.2(FANCB): c.402A> G (p.Leu134=) single nucleotide variant Benign/Likely benign rs147260208 GRCh38 Chromosome X, 14865109: 14865109
49 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh37 Chromosome X, 14883283: 14883283
50 FANCB NM_001018113.2(FANCB): c.350A> C (p.Lys117Thr) single nucleotide variant Uncertain significance rs1057515811 GRCh38 Chromosome X, 14865161: 14865161

Expression for Vacterl Association with Hydrocephalus

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

Pathways for Vacterl Association with Hydrocephalus

GO Terms for Vacterl Association with Hydrocephalus

Sources for Vacterl Association with Hydrocephalus

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