Waardenburg syndrome, type 1

Preferred Label : Waardenburg syndrome, type 1;

Symbol : WS1;

CISMeF acronym : WS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome with dystopia canthorum;

Description : Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). - Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see 193510) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). - Genetic Heterogeneity of All Types of Waardenburg Syndrome Waardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (193510) for a discussion of genetic heterogeneity of WS type 2, and WS4A (277580) for a discussion of genetic heterogeneity of WS type 4.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box 3 gene (PAX3, 606597.0001);

Prefixed ID : #193500;

Details

Origin ID

193500;

UMLS CUI

C1847800;

Automatic exact mappings (from CISMeF team)
- PAX3 wt Allele [NCIt concept]
- symbol withdrawn WS1 [HGNC gene]
- waardenburg syndrome [MeSH Descriptor]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Waardenburg Syndrome Type 1 [NCIt concept]
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 [ICD-11 More detail]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- waardenburg syndrome [MeSH concept]
- waardenburg syndrome type 1 [MeSH concept]
DO Cross reference
- Waardenburg syndrome type 1 [DO Concept]
Genes related to phenotype
- Paired box gene 3 [OMIM gene]
HPO term(s)
- Aplasia of the vagina [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Blue irides [HPO term]
- Congenital partial albinism (leucoderma) on face, trunk, or limbs [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Heterochromia iridis [HPO term]
- Hypertelorism [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypoplastic iris stroma [HPO term]
- Mandibular prognathia [HPO term]
- Myelomeningocele [HPO term]
- Oral cleft [HPO term]
- Partial albinism [HPO term]
- Premature graying of hair [HPO term]
- Smooth philtrum [HPO term]
- Spina bifida [HPO term]
- Sprengel anomaly [HPO term]
- Supernumerary ribs [HPO term]
- Supernumerary vertebrae [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Underdeveloped nasal alae [HPO term]
- White eyebrow [HPO term]
- White eyebrows and eyelashes [HPO term]
- White eyelashes [HPO term]
- White forelock [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Syndrome Type 1 [NCIt concept]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- waardenburg syndrome type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Waardenburg syndrome [Disease (Nov.)]
- waardenburg syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients