Disease: Waardenburg Syndrome, Type 2E

Name Waardenburg Syndrome, Type 2E

Synonyms HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION , WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT , WAARDENBURG SYNDROME, TYPE IIE , WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT

Classification developmental, genetic, otorhinolaryngological, skin

Phenotypes Anosmia; Aplasia of the semicircular canal; Autosomal dominant inheritance; Blue irides; Cafe-au-lait spot; Cerebral hypomyelination; Dilatation; Dilated vestibule of the inner ear; Global developmental delay; Heterochromia iridis; Heterogeneous; Hypertonia; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Intellectual disability; Muscular hypotonia of the trunk; Nystagmus; Ocular albinism; Pectus excavatum; Premature graying of hair; Sensorineural hearing impairment; White eyebrow; White eyelashes; White forelock

Associated Genes SOX10 (Withdrawn symbols: DOM, WS2E, WS4 )

Mouse Orthologs Sox10 (Withdrawn symbols: Dom, Sox21, gt )

Source OMIM:611584 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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