MCID: CNG175

Congenital Heart Defects, Nonsyndromic, 1, X-Linked malady

Genetic diseases (common) category

Summaries for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Congenital Heart Defects, Nonsyndromic, 1, X-Linked An important gene associated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked is ZIC3 (Zic family member 3). Affiliated tissues include heart.

Description from OMIM:48 306955

Aliases & Classifications for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

congenital heart defects, nonsyndromic, 1, x-linked 48


Related Diseases for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

Symptoms for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

306955

Drugs & Therapeutics for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Drug clinical trials:

Search ClinicalTrials for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Search NIH Clinical Center for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Search CenterWatch for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Genetic Tests for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

Anatomical Context for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

34
Heart

Animal Models for Congenital Heart Defects, Nonsyndromic, 1, X-Linked or affiliated genes

About this section

Publications for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

Variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

65
id Symbol AA change Variation ID SNP ID
1ZIC3p.Thr323MetVAR_007753
2ZIC3p.Pro217AlaVAR_025632
3ZIC3p.Cys253SerVAR_025633
4ZIC3p.His286ArgVAR_025634
5ZIC3p.Lys405GluVAR_025635
6ZIC3p.Trp255GlyVAR_042416

Clinvar genetic disease variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.968C> T (p.Thr323Met)single nucleotide variantPathogenicrs122462165GRCh37Chr X, 136649818: 136649818
2ZIC3NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter)single nucleotide variantPathogenicrs122462166GRCh37Chr X, 136649654: 136649654
3ZIC3NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs104894960GRCh37Chr X, 136649595: 136649595
4ZIC3NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser)single nucleotide variantPathogenicrs104894961GRCh37Chr X, 136649608: 136649608
5ZIC3NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu)single nucleotide variantPathogenicrs104894962GRCh37Chr X, 136651213: 136651213
6ZIC3ZIC3, 2-BP INS, 1507TTinsertionPathogenic
7ZIC3NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly)single nucleotide variantPathogenicrs122463168GRCh37Chr X, 136649613: 136649613

Expression for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Search GEO for disease gene expression data for Congenital Heart Defects, Nonsyndromic, 1, X-Linked.

Pathways for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

Compounds for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

GO Terms for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section

Products for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet