MCID: VCT007
MIFTS: 14

Vacterl Association, X-Linked malady

Genetic diseases (common) category

Summaries for Vacterl Association, X-Linked

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OMIM:45 VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac... (314390) more...

MalaCards based summary: Vacterl Association, X-Linked, is also known as vacterl association, x-linked, with or without hydrocephalus, and has symptoms including urethral atresia, hydronephrosis and hydrocephalus. An important gene associated with Vacterl Association, X-Linked is ZIC3 (Zic family member 3). Affiliated tissues include heart.

Aliases & Classifications for Vacterl Association, X-Linked

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Vacterl Association, X-Linked, Aliases & Descriptions:

Name: Vacterl Association, X-Linked 45 10
 
Vacterl Association, X-Linked, with or Without Hydrocephalus 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 314390

Related Diseases for Vacterl Association, X-Linked

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Symptoms for Vacterl Association, X-Linked

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Symptoms by clinical synopsis from OMIM:

314390

Clinical features from OMIM:

314390

HPO human phenotypes related to Vacterl Association, X-Linked:

(show all 11)
id Description Frequency HPO Source Accession
1 urethral atresia HP:0000068
2 hydronephrosis HP:0000126
3 hydrocephalus HP:0000238
4 hand polydactyly HP:0001161
5 anal atresia HP:0002023
6 malformation of the heart and great vessels HP:0002564
7 tracheoesophageal fistula HP:0002575
8 abnormality of the vertebrae HP:0003468
9 absent radius HP:0003974
10 short humerus HP:0005792
11 proximal placement of thumb HP:0009623

Drugs & Therapeutics for Vacterl Association, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Vacterl Association, X-Linked

Search NIH Clinical Center for Vacterl Association, X-Linked

Genetic Tests for Vacterl Association, X-Linked

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Genetic tests related to Vacterl Association, X-Linked:

id Genetic test Affiliating Genes
1 Vacterl Association, X-Linked, with or Without Hydrocephalus20 ZIC3

Anatomical Context for Vacterl Association, X-Linked

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MalaCards organs/tissues related to Vacterl Association, X-Linked:

31
Heart

Animal Models for Vacterl Association, X-Linked or affiliated genes

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Publications for Vacterl Association, X-Linked

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Variations for Vacterl Association, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Vacterl Association, X-Linked:

62
id Symbol AA change Variation ID SNP ID
1ZIC3p.His318AsnVAR_071333

Clinvar genetic disease variations for Vacterl Association, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla)insertionPathogenicrs398122850GRCh37Chr X, 136649015: 136649016

Expression for genes affiliated with Vacterl Association, X-Linked

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Search GEO for disease gene expression data for Vacterl Association, X-Linked.

Pathways for genes affiliated with Vacterl Association, X-Linked

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Compounds for genes affiliated with Vacterl Association, X-Linked

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GO Terms for genes affiliated with Vacterl Association, X-Linked

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Products for genes affiliated with Vacterl Association, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Vacterl Association, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet