MCID: WRD027
MIFTS: 34

Waardenburg Syndrome Type Iid malady

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

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MalaCards based summary: Waardenburg Syndrome Type Iid, also known as waardenburg syndrome, type 2d, is related to neural tube defects and piebaldism, and has symptoms including An important gene associated with Waardenburg Syndrome Type Iid is SNAI2 (snail family zinc finger 2), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye and skin, and related mouse phenotypes are pigmentation and craniofacial.

Description from OMIM:46 608890

Aliases & Classifications for Waardenburg Syndrome Type Iid

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Waardenburg Syndrome Type Iid, Aliases & Descriptions:

Name: Waardenburg Syndrome Type Iid 20 22
Waardenburg Syndrome, Type 2d 46
 
Waardenburg Syndrome, Type I 62


Classifications:



Related Diseases for Waardenburg Syndrome Type Iid

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Graphical network of diseases related to Waardenburg Syndrome Type Iid:



Diseases related to waardenburg syndrome type iid

Symptoms for Waardenburg Syndrome Type Iid

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Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

HPO human phenotypes related to Waardenburg Syndrome Type Iid:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 telecanthus HP:0000506
3 heterochromia iridis HP:0001100
4 heterogeneous HP:0001425
5 congenital sensorineural hearing impairment HP:0008527

Drugs & Therapeutics for Waardenburg Syndrome Type Iid

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Drug clinical trials:

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Genetic Tests for Waardenburg Syndrome Type Iid

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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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MalaCards organs/tissues related to Waardenburg Syndrome Type Iid:

32
Eye, Skin

Animal Models for Waardenburg Syndrome Type Iid or affiliated genes

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MGI Mouse Phenotypes related to Waardenburg Syndrome Type Iid:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3SNAI2, PAX3
2MP:00053829.3SNAI2, PAX3
3MP:00053819.2SNAI2, PAX3
4MP:00053919.2SNAI2, PAX3
5MP:00053799.1PAX3, SNAI2
6MP:00053809.1SNAI2, PAX3
7MP:00053909.0SNAI2, PAX3
8MP:00107718.8SNAI2, PAX3

Publications for Waardenburg Syndrome Type Iid

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Variations for Waardenburg Syndrome Type Iid

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Clinvar genetic disease variations for Waardenburg Syndrome Type Iid:

6
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

Expression for genes affiliated with Waardenburg Syndrome Type Iid

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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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Pathways related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SNAI2, PAX3

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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Biological processes related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.1SNAI2, PAX3
2sensory perception of soundGO:0076058.8SNAI2, PAX3

Molecular functions related to Waardenburg Syndrome Type Iid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1SNAI2, PAX3
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.0SNAI2, PAX3
3chromatin bindingGO:0036828.8SNAI2, PAX3

Products for genes affiliated with Waardenburg Syndrome Type Iid

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  • Antibodies
  • Proteins
  • Lysates

Sources for Waardenburg Syndrome Type Iid

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet