Waardenburg Syndrome Type 2D (original) (raw)
Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg Syndrome. Those affected, exhibit varying degrees of deafness or complete hearing loss along with heterochromia and reports of early graying. This disease is observed in the neonatal stages of early life.
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| dbo:abstract | Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg Syndrome. Those affected, exhibit varying degrees of deafness or complete hearing loss along with heterochromia and reports of early graying. This disease is observed in the neonatal stages of early life. (en) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
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| dbo:wikiPageRevisionID | 1093375173 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Cochlea dbr:Congenital_hearing_loss dbr:Dystopia_canthorum dbc:Amino_acid_metabolism_disorders dbc:Syndromes_affecting_hearing dbr:SOX10 dbc:Disturbances_of_human_pigmentation dbc:Transcription_factor_deficiencies dbr:Synophrys dbr:Heterochromia_iridum dbr:Microphthalmia dbr:Autosomal_Recessive dbr:Waardenburg_syndrome dbr:SNAI2 dbr:Leukoderma dbr:Neonatal dbr:MITF dbr:File:Heterochromia_plos.png |
| dbp:caption | This condition is inherited in an autosomal recessive manner (en) |
| dbp:cause | mutation in SLUG gene (en) |
| dbp:wikiPageUsesTemplate | dbt:Citation_needed dbt:Reflist dbt:Short_description dbt:Infobox_medical_condition dbt:Medicine dbt:More_medical_citations_needed |
| dct:subject | dbc:Amino_acid_metabolism_disorders dbc:Syndromes_affecting_hearing dbc:Disturbances_of_human_pigmentation dbc:Transcription_factor_deficiencies |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg Syndrome. Those affected, exhibit varying degrees of deafness or complete hearing loss along with heterochromia and reports of early graying. This disease is observed in the neonatal stages of early life. (en) |
| rdfs:label | Waardenburg Syndrome Type 2D (en) |
| owl:sameAs | wikidata:Waardenburg Syndrome Type 2D https://global.dbpedia.org/id/2yLCQ |
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| foaf:depiction | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg wiki-commons:Special:FilePath/Heterochromia_plos.png |
| foaf:isPrimaryTopicOf | wikipedia-en:Waardenburg_Syndrome_Type_2D |
| is dbo:wikiPageRedirects of | dbr:The_Waardenburg_Syndrome_Type_2D dbr:Waardenburg_syndrome_type_2D |
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| is foaf:primaryTopic of | wikipedia-en:Waardenburg_Syndrome_Type_2D |
