Microphthalmia–dermal aplasia–sclerocornea syndrome (original) (raw)
Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males. It can be associated with HCCS, mutations in it cause microphthalmia with Linear Skin Defects Syndrome.
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| dbo:abstract | Das MIDAS-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Mikrophthalmie mit weiteren Fehlbildungen wie Aplasie der Kutis und Sklerokornea. Sie ist eine Form der syndromalen Mikrophthalmie. Synonyme sind: Syndromale Mikrophthalmie Typ 7, (MCOPS7), Mikrophthalmie - Hautaplasie – Sklerokornea; MLS-Syndrom; Mikrophthalmie - Hautaplasie – Sklerokornea, englisch Linear skin defects with multiple congenital anomalies Die Bezeichnung „MIDAS“ ist ein Akronym für Mikrophthalmie, dermale Aplasie und Sklerokornea, „MLS“ die Abkürzung für Mikrophthalmie – Lineare Hautdefekte – Syndrom. Die Erstbeschreibung stammt aus dem Jahre 1990 durch L. I. Al Gazali und Mitarbeiter. (de) Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males. It can be associated with HCCS, mutations in it cause microphthalmia with Linear Skin Defects Syndrome. (en) Zespół MIDAS (ang. MIDAS syndrome, microphthalmia, dermal aplasia and sclerocornea, syndromic microphthalmia type 7, MCOPS7) – rzadki zespół wad wrodzonych charakteryzujący się mikroftalmią i linijnymi ogniskami aplazji skóry głowy i szyi. Stwierdza się też inne wrodzone nieprawidłowości narządu wzroku, takie jak torbiele oczodołu i zmętnienie rogówki. Choroba może być spowodowana mutacjami w genie w locus Xp22, który koduje syntazę cytochromu C. (pl) |
| dbo:geneReviewsId | NBK7041 |
| dbo:geneReviewsName | Microphthalmia with Linear Skin Defects Syndrome (en) |
| dbo:omim | 309801 (xsd:integer) |
| dbo:wikiPageExternalLink | https://www.ncbi.nlm.nih.gov/books/NBK7041/ |
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| dbo:wikiPageWikiLink | dbr:Mutation dbr:Uterus dbr:Lethality dbc:Genodermatoses dbr:Females dbr:Disease dbr:HCCS_(gene) dbc:Syndromes dbr:Microphthalmia dbr:Male dbr:Skin dbr:List_of_cutaneous_conditions dbr:Skin_lesion dbr:X-linked_dominant |
| dbp:genereviewsname | Microphthalmia with Linear Skin Defects Syndrome (en) |
| dbp:genereviewsnbk | NBK7041 (en) |
| dbp:omim | 309801 (xsd:integer) |
| dbp:synonym | MIDAS syndrome (en) |
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| dct:subject | dbc:Genodermatoses dbc:Syndromes |
| gold:hypernym | dbr:Condition |
| rdf:type | owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 |
| rdfs:comment | Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males. It can be associated with HCCS, mutations in it cause microphthalmia with Linear Skin Defects Syndrome. (en) Zespół MIDAS (ang. MIDAS syndrome, microphthalmia, dermal aplasia and sclerocornea, syndromic microphthalmia type 7, MCOPS7) – rzadki zespół wad wrodzonych charakteryzujący się mikroftalmią i linijnymi ogniskami aplazji skóry głowy i szyi. Stwierdza się też inne wrodzone nieprawidłowości narządu wzroku, takie jak torbiele oczodołu i zmętnienie rogówki. Choroba może być spowodowana mutacjami w genie w locus Xp22, który koduje syntazę cytochromu C. (pl) Das MIDAS-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Mikrophthalmie mit weiteren Fehlbildungen wie Aplasie der Kutis und Sklerokornea. Sie ist eine Form der syndromalen Mikrophthalmie. Synonyme sind: Syndromale Mikrophthalmie Typ 7, (MCOPS7), Mikrophthalmie - Hautaplasie – Sklerokornea; MLS-Syndrom; Mikrophthalmie - Hautaplasie – Sklerokornea, englisch Linear skin defects with multiple congenital anomalies Die Erstbeschreibung stammt aus dem Jahre 1990 durch L. I. Al Gazali und Mitarbeiter. (de) |
| rdfs:label | MIDAS-Syndrom (de) Microphthalmia–dermal aplasia–sclerocornea syndrome (en) Zespół MIDAS (pl) |
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| prov:wasDerivedFrom | wikipedia-en:Microphthalmia–dermal_aplasia–sclerocornea_syndrome?oldid=1038540335&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Microphthalmia–dermal_aplasia–sclerocornea_syndrome |
| is dbo:wikiPageRedirects of | dbr:MIDAS_syndrome dbr:Microphthalmia-dermal_aplasia-sclerocornea_syndrome |
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