MCID: WRD022
MIFTS: 19

Waardenburg Syndrome, Type 2d malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Waardenburg Syndrome, Type 2d

About this section

Aliases & Descriptions for Waardenburg Syndrome, Type 2d:

Name: Waardenburg Syndrome, Type 2d 46 9 20 22


Classifications:



External Ids:

OMIM46 608890

Summaries for Waardenburg Syndrome, Type 2d

About this section
OMIM:46 Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair,... (608890) more...

MalaCards based summary: Waardenburg Syndrome, Type 2d and has symptoms including autosomal recessive inheritance, telecanthus and heterochromia iridis. An important gene associated with Waardenburg Syndrome, Type 2d is SNAI2 (snail family zinc finger 2). Affiliated tissues include eye and skin.

Related Diseases for Waardenburg Syndrome, Type 2d

About this section

Symptoms for Waardenburg Syndrome, Type 2d

About this section

Symptoms by clinical synopsis from OMIM:

608890

Clinical features from OMIM:

608890

HPO human phenotypes related to Waardenburg Syndrome, Type 2d:

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 2d

About this section

Drug clinical trials:

Search ClinicalTrials for Waardenburg Syndrome, Type 2d

Search NIH Clinical Center for Waardenburg Syndrome, Type 2d

Genetic Tests for Waardenburg Syndrome, Type 2d

About this section

Genetic tests related to Waardenburg Syndrome, Type 2d:

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

Anatomical Context for Waardenburg Syndrome, Type 2d

About this section

MalaCards organs/tissues related to Waardenburg Syndrome, Type 2d:

31
Eye, Skin

Animal Models for Waardenburg Syndrome, Type 2d or affiliated genes

About this section

Publications for Waardenburg Syndrome, Type 2d

About this section

Variations for Waardenburg Syndrome, Type 2d

About this section

Clinvar genetic disease variations for Waardenburg Syndrome, Type 2d:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SNAI2NG_012130.1: g.(?_5165)_(7623_?)deldeletionPathogenic

Expression for genes affiliated with Waardenburg Syndrome, Type 2d

About this section
Search GEO for disease gene expression data for Waardenburg Syndrome, Type 2d.

Pathways for genes affiliated with Waardenburg Syndrome, Type 2d

About this section

Compounds for genes affiliated with Waardenburg Syndrome, Type 2d

About this section

GO Terms for genes affiliated with Waardenburg Syndrome, Type 2d

About this section

Sources for Waardenburg Syndrome, Type 2d

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet