MCID: WRD027
MIFTS: 21

Waardenburg Syndrome Type Iid malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Gastrointestinal diseases categories
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Summaries for Waardenburg Syndrome Type Iid

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Sources:
47OMIM, 33MalaCards
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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:47 608890

Aliases & Classifications for Waardenburg Syndrome Type Iid

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

waardenburg syndrome type iid 20 22
waardenburg syndrome, type 2d 47
waardenburg syndrome, type i 62


Related Diseases for Waardenburg Syndrome Type Iid

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Symptoms for Waardenburg Syndrome Type Iid

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Sources:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome Type Iid

Search NIH Clinical Center for Waardenburg Syndrome Type Iid

Genetic Tests for Waardenburg Syndrome Type Iid

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Waardenburg Syndrome Type Iid:

id Genetic test Affiliating Genes
1 Waardenburg Syndrome Type Iid20 SNAI2
2 Waardenburg Syndrome Type 2d22

Anatomical Context for Waardenburg Syndrome Type Iid

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33MalaCards
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MalaCards organs/tissues related to Waardenburg Syndrome Type Iid:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet