Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181) Parent Node: Heart Defects, Congenital (D006330) Parent Node: Hydrocephalus (D006849) Parent Node: Limb Deformities, Congenital (D017880) ..Starting node .. VACTERL association with hydrocephaly, X-linked (C536520) Child Nodes:
Sister Nodes: ..Aase Smith syndrome (C535332) ..Abruzzo Erickson syndrome (C535559) ..Acromegaloid facial appearance syndrome (C535655) ..Acromicric dysplasia (C535662) 1 ..Acropectoral syndrome (C535664) ..Acropectorovertebral Dysplasia, F-Form (C566319) ..Acrorenal syndrome recessive (C535666) ..Adams Oliver syndrome (C538225) ..Arachnodactyly (D054119) 10 ..Arms, Malformation of (C566258) ..ATELOSTEOGENESIS, TYPE III (OMIM:108721) ..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745) ..Bagatelle Cassidy syndrome (C537796) ..Brachydactyly (D059327) 54 ..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242) ..Brachyolmia, recessive Hobaek type (C537099) ..Calabro syndrome (C537960) ..Camptobrachydactyly (C537967) ..Cartwright Nelson Fryns syndrome (C535917) ..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731) ..Chondrodysplasia, acromesomelic, with genital anomalies (C537913) ..COCOON SYNDROME (OMIM:613630) ..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515) ..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127) ..Craniomicromelic Syndrome (C566522) ..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380) ..Ectrodactyly (C574275) ..Ectrodactyly-Polydactyly (C565601) ..Ectromelia (D004480) 22 ..Faciocardiomelic Dysplasia, Lethal (C565578) ..Fetal akinesia syndrome, X-linked (C537921) ..Foot Deformities, Congenital (D005532) 78 ..Freire-Maia odontotrichomelic syndrome (C535637) ..Fryns syndrome (C538070) ..Genee-Wiedemann syndrome (C537680) ..Grubben de Cock Borghgraef syndrome (C537621) ..Hand and foot deformity with flat facies (C535626) ..Hand Deformities, Congenital (D006228) 134 ..Hanhart syndrome (C535629) ..Heart defects limb shortening (C535850) ..Hypochondroplasia (C562937) ..Hypoglossia-Hypodactylia (C566308) ..Ichthyosis tapered fingers midline groove up (C536272) ..Kaplan Plauchu Fitch syndrome (C536892) ..Kaufman oculocerebrofacial syndrome (C537013) ..Krause-Kivlin syndrome (C537617) ..Kuster syndrome (C538126) ..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620) ..Le Marec Bracq Picaud syndrome (C536997) ..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438) ..Limb Deficiencies, Distal, with Micrognathia (C565437) ..Limb-mammary syndrome (C535903) ..Lower Extremity Deformities, Congenital (D038061) 89 ..Lynch Lee Murday syndrome (C537713) ..Megalodactyly (C562546) ..Mental retardation spasticity ectrodactyly (C537446) ..Mesomelia-synostoses syndrome (C537348) ..Metaphyseal anadysplasia (C537351) ..Metaphyseal Anadysplasia 1 (C567545) ..Metaphyseal Anadysplasia 2 (C567771) ..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370) ..Microphthalmia, Syndromic 6 (C566440) ..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291) ..Multiple Pterygium Syndrome, X-Linked (C564072) ..Nephrosis deafness urinary tract digital malformation (C536402) ..Neu Laxova syndrome (C536405) ..Nievergelt syndrome (C536120) ..Oculodigitoesophagoduodenal syndrome (C537734) ..Palant cleft palate syndrome (C538102) ..Penttinen-Aula syndrome (C536653) ..Pointer syndrome (C536323) ..Polydactyly (D017689) 61 ..Postaxial Oligodactyly, Tetramelic (C566767) ..Powell Chandra Saal syndrome (C538357) ..Propping Zerres syndrome (C538052) ..Proteus Syndrome (D016715) 1 ..Radial Ray Deficiency, X-Linked (C564523) ..Rapadilino syndrome (C535288) ..Reardon Hall Slaney syndrome (C535294) ..Renal dysplasia - limb defects syndrome (C537754) ..Robinow Syndrome, Autosomal Dominant (C562492) ..Robinow syndrome, autosomal recessive (C535863) ..Ruzicka Goerz Anton syndrome (C537192) ..Short Stature-Obesity Syndrome (C564821) ..Splenogonadal fusion limb defects micrognatia (C537318) ..Split hand foot deformity (C535777) 2 ..Split hand foot deformity 1 (C567893) ..Split-Hand And Split-Foot With Hypodontia (C566665) ..Split-Hand Foot Malformation 2 (C564056) 1 ..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662) ..Split-Hand/Foot Malformation 4 (C565344) ..Split-Hand/Foot Malformation 5 (C564674) ..Split-Hand/Foot Malformation 6 (C567616) ..Split-hand/foot malformation with long bone deficiency (C536425) ..Split-Hand/Foot Malformation With Long Bone Deficiency 2 (C565199) ..Split-Hand/Foot Malformation With Long Bone Deficiency 3 (C567245) ..Steinfeld Syndrome (C566655) ..Stern Lubinsky Durrie syndrome (C537488) ..Stratton-Parker Syndrome (C566105) ..Syndactyly (D013576) 69 ..Terminal Osseous Dysplasia and Pigmentary Defects (C564554) ..Tetramelic Monodactyly (C566066) ..Thanatophoric Dysplasia (D013796) 8 ..Thoracic Dysplasia-Hydrocephalus Syndrome (C564774) ..Thoraco limb dysplasia Rivera type (C536516) ..Thoracomelic Dysplasia (C564773) ..Ulnar Hypoplasia with Mental Retardation (C564757) ..Upper Extremity Deformities, Congenital (D038062) 145 ..VACTERL association (C536495) ..VACTERL association with hydrocephaly, X-linked (C536520) ..VACTERL hydrocephaly (C536521) ..Viljoen Kallis Voges syndrome (C536349) ..Weyers acrofacial dysostosis (C536695) ..Wright Dyck syndrome (C536749) ..Yunis Varon syndrome (C536719) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 11495
Name: VACTERL association with hydrocephaly, X-linked
Definition:
Alternative IDs: OMIM:314390
ParentIDs: MESH:D006330|MESH:D006849|MESH:D017880|MESH:D040181
TreeNumbers: C05.660.585/C536520 |C10.228.140.602/C536520 |C10.228.140.631.450/C536520 |C14.240.400/C536520 |C14.280.400/C536520 |C16.131.240.400/C536520 |C16.131.621.585/C536520 |C16.320.322/C536520
Synonyms: VACTERL Association With Hydrocephalus, X-Linked |VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS |VACTERL-H, X-Linked |VACTERLX |X-linked VACTERL-H syndrome
Slim Mappings: Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference:
MedGen: C536520
MeSH: C536520
OMIM: 314390 ; Genes: ZIC3 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) 7547 ZIC3 Benign;Pathogenic 147232392 RCV000198780 ; RCV000201846 ; N MedGen:C1839115,OMIM:314390; MedGen:C1844020,OMIM:306955 X 136648899 136648899 NM_003413.3:c.49G>T NP_003404.1:p.Gly17Cys NC_000023.10:g.136648899G>T - C1844020 306955 Heterotaxy, visceral, X-linked; C1839115 314390 VACTERL association with hydrocephaly, X-linked NM_003413.3(ZIC3):c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla) 7547 ZIC3 Pathogenic 398122850 RCV000022847 ; N MedGen:C1839115,OMIM:314390 X 136649015 136649016 NM_003413.3:c.165_166insGCCGCC NP_003404.1:p.Ala55_Phe56insAlaAla NC_000023.10:g.136649015_136649016insGCCGCC OMIM Allelic Variant:300265.0010 C1839115 314390 VACTERL association with hydrocephaly, X-linked