VACTERL-H
MCID: VCT004
MIFTS: 23

Vacterl Association with Hydrocephalus (VACTERL-H)

Categories: Nephrological diseases

Aliases & Classifications for Vacterl Association with Hydrocephalus

MalaCards integrated aliases for Vacterl Association with Hydrocephalus:

Name: Vacterl Association with Hydrocephalus 58 76 30 6 74
Vacterl-H 58 76

Characteristics:

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
vacterl association with hydrocephalus:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vacterl Association with Hydrocephalus

OMIM : 58 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 vacterl-h, 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). Related phenotypes are hydrocephalus and respiratory insufficiency

UniProtKB/Swiss-Prot : 76 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 16)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 29.3 FANCB PTEN
2 vacterl association, x-linked, with or without hydrocephalus 11.8
3 vacterl association with hydrocephaly, x-linked 11.8
4 vacterl hydrocephaly 11.8
5 fanconi anemia, complementation group b 11.7
6 vater/vacterl association 11.6
7 histiocytosis-lymphadenopathy plus syndrome 10.2
8 hypothyroidism 10.1
9 vacterl with hydrocephalus 10.1
10 vacterl association 10.1
11 syringomyelia 10.0
12 heterotaxy 10.0
13 sirenomelia 10.0
14 baller-gerold syndrome 10.0
15 fanconi anemia, complementation group a 10.0
16 congenital hydrocephalus 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

Human phenotypes related to Vacterl Association with Hydrocephalus:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 respiratory insufficiency 33 HP:0002093
3 aqueductal stenosis 33 HP:0002410
4 abnormal vertebral morphology 33 HP:0003468
5 respiratory failure 33 HP:0002878
6 anal atresia 33 HP:0002023
7 renal hypoplasia 33 HP:0000089
8 abnormality of cardiovascular system morphology 33 HP:0030680
9 abnormality of the vertebral column 33 HP:0000925
10 radial club hand 33 HP:0004059
11 abnormal heart morphology 33 HP:0001627
12 absent thumb 33 HP:0009777

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Vacterl Association with Hydrocephalus

Publications for Vacterl Association with Hydrocephalus

Articles related to Vacterl Association with Hydrocephalus:

(show all 15)
# Title Authors Year
1
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. ( 29232005 )
2018
2
Syringomyelia in VACTERL-H association: a new neurological feature in an adult patient. ( 26194037 )
2016
3
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. ( 27028275 )
2016
4
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. ( 26683739 )
2016
5
VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. ( 24411047 )
2013
6
VACTERL-H Association and Fanconi Anemia. ( 23653579 )
2013
7
From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. ( 21465648 )
2011
8
VACTERL-H syndrome: first trimester diagnosis. ( 24592007 )
2011
9
VACTERL-H associated with central hypothyroidism: a case report. ( 18019375 )
2007
10
VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient. ( 15127761 )
2004
11
VACTERL-H syndrome. ( 12168129 )
2002
12
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. ( 9572377 )
1998
13
VACTERL with hydrocephalus: family with X-linked VACTERL-H. ( 9508070 )
1998
14
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996
15
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. ( 8280876 )
1993

Variations for Vacterl Association with Hydrocephalus

ClinVar genetic disease variations for Vacterl Association 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 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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