Waardenburg syndrome, type 2a

Preferred Label : Waardenburg syndrome, type 2a;

Symbol : WS2A;

CISMeF acronym : WS2A; WS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Waardenburg syndrome without dystopia canthorum; Waardenburg syndrome, type iia; WS2;

Description : Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Waardenburg syndrome type 2A is caused by mutation in the MITF gene (156845). - Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). - Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p, WS2C (606662) has been mapped to chromosome 8p23, WSD (608890) is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microphthalmia-associated transcription factor gene (MITF, 156845.0001);

Prefixed ID : #193510;

Details

Origin ID

193510;

UMLS CUI

C1860339;

Automatic exact mappings (from CISMeF team)
- MITF wt Allele [NCIt concept]
- WS2A gene [LOINC component]
- Waardenburg syndrome type 2 [ORDO Disease]
- symbol withdrawn WS2A [HGNC gene]
- waardenburg syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Waardenburg Syndrome Type 2A [NCIt concept]
- Waardenburg syndrome type 2A [DO Concept]
- Waardenburg syndrome type 2A [MeSH concept]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
DO Cross reference
- Waardenburg syndrome type 2A [DO Concept]
Genes related to phenotype
- Microphthalmia-associated transcription factor [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal dominant inheritance [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]
- Heterogeneous [HPO term]
- Hypoplastic iris stroma [HPO term]
- Partial albinism [HPO term]
- Premature graying of hair [HPO term]
- Synophrys [HPO term]
- Underdeveloped nasal alae [HPO term]
- Variable expressivity [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]
Not associated HPO term(s)
- Telecanthus [HPO term]
ORDO concept(s)
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Syndrome Type 2A [NCIt concept]
- Waardenburg syndrome type 2A [MeSH concept]
- Waardenburg syndrome type 2A [DO Concept]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Waardenburg syndrome [Disease (Nov.)]

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