MCID: WRD027
MIFTS: 21

Waardenburg Syndrome Type Iid malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories

Summaries for Waardenburg Syndrome Type Iid

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Sources:
48OMIM, 34MalaCards
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MalaCards: Waardenburg Syndrome Type Iid, is also known as waardenburg syndrome, type 2d An important gene associated with Waardenburg Syndrome Type Iid is SNAI2 (snail family zinc finger 2). Affiliated tissues include eye and skin.

Description from OMIM:48 608890

Aliases & Classifications for Waardenburg Syndrome Type Iid

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

waardenburg syndrome type iid 21 23
waardenburg syndrome, type 2d 48
waardenburg syndrome, type i 63


Related Diseases for Waardenburg Syndrome Type Iid

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Symptoms for Waardenburg Syndrome Type Iid

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

Drugs & Therapeutics for Waardenburg Syndrome Type Iid

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Waardenburg Syndrome Type Iid

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type Iid

Search NIH Clinical Center for Waardenburg Syndrome Type Iid

Search CenterWatch for Waardenburg Syndrome Type Iid

Genetic Tests for Waardenburg Syndrome Type Iid

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21GeneTests, 23GTR
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Genetic tests related to Waardenburg Syndrome Type Iid:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Iid21 SNAI2
2 Waardenburg Syndrome Type 2d23

Anatomical Context for Waardenburg Syndrome Type Iid

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Sources:
34MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type Iid:

34
Eye, Skin

Animal Models for Waardenburg Syndrome Type Iid or affiliated genes

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Publications for Waardenburg Syndrome Type Iid

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Variations for Waardenburg Syndrome Type Iid

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Waardenburg Syndrome Type Iid:

1
id Gene Name Type Significance SNP ID Assembly Location
1PAX3NM_181457.3(PAX3): c.238C> G (p.His80Asp)single nucleotide variantPathogenicrs387906947GRCh37Chr 2, 223161780: 223161780
2PAX3NM_181457.3(PAX3): c.149C> T (p.Pro50Leu)single nucleotide variantPathogenicrs104893650GRCh37Chr 2, 223161869: 223161869
3PAX3NM_181457.3(PAX3): c.251C> T (p.Ser84Phe)single nucleotide variantPathogenicrs104893651GRCh37Chr 2, 223161767: 223161767
4PAX3NM_181457.3(PAX3): c.167G> T (p.Arg56Leu)single nucleotide variantPathogenicrs267606931GRCh37Chr 2, 223161851: 223161851
5SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic
6SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic

Expression for genes affiliated with Waardenburg Syndrome Type Iid

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Waardenburg Syndrome Type Iid

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Pathways for genes affiliated with Waardenburg Syndrome Type Iid

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Compounds for genes affiliated with Waardenburg Syndrome Type Iid

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GO Terms for genes affiliated with Waardenburg Syndrome Type Iid

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Products for genes affiliated with Waardenburg Syndrome Type Iid

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Waardenburg Syndrome Type Iid

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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