ATR-X syndrome (original) (raw)
La thalassémie alpha liée à l'X avec retard mental associe un visage caractéristique, des anomalies génitales, un retard de développement important s'associant avec un retard mental et des signes hématologiques de thalassémie alpha
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| dbo:abstract | Das ATR-X-Syndrom ist eine sehr seltene angeborene, nur bei männlichen Patienten auftretende Erkrankung mit schwerer Entwicklungsverzögerung, Fehlbildungen im Gesicht und am Genitale sowie einer Alpha-Thalassämie. Bei weiblichen Überträgerinnen finden sich keine körperlichen oder geistigen Auffälligkeiten. Synonyme sind: X-chromosomales Alpha-Thalassämie-Geistige Retardierung-Syndrom; ATR, Nondeletion Type Im Gegensatz zum ATR-16-Syndrom als Deletions-Typ liegt beim ATR-X-Syndrom keine Gendeletion vor. Die Kombination wurde als ATR-X Syndrom 1990 erstmals beschrieben durch den Briten Andrew 0. M. Wilkie. (de) Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, is an X-linked recessive condition associated with a mutation in the ATRX gene. Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no specific signs or features, but if they do, they may demonstrate skewed X chromosome inactivation. Atr-X Syndrome can also come with problems regulating CO2 Levels and normal bodily temperature regulation, the cause of this is widely debated but currently unknown, many children with Atr-X may need oxygen support long term through their entire life but cases that require long term oxygen are rare, however many children with Atr-x will require help with feeding such and NG/NJ tube feeding, this is not present in all cases however. Many children will also experience severe reflux issues and may require regular medical suction procedures. (en) La thalassémie alpha liée à l'X avec retard mental associe un visage caractéristique, des anomalies génitales, un retard de développement important s'associant avec un retard mental et des signes hématologiques de thalassémie alpha (fr) Zespół ATR-X (zespół alfa talasemia-opóźnienie umysłowe o dziedziczeniu sprzężonym z chromosomem X, ang. alpha thalassaemia-mental retardation, X linked) – rzadka choroba uwarunkowana genetycznie. Chorują jedynie osoby posiadające chromosom Y, dziedziczenie sprzężone jest z chromosomem X. Chorobę wywołują mutacje w genie ATRX. (pl) ATR-X syndrome (Alpha-thalassemia mental retardation syndrome) är ett tillstånd orsakat av muterad gen. Kvinnor med denna muterade gen har inga speciella tecken eller drag, men kan visa inaktivering av X-kromosom. män brukar vara måttligt utvecklingsstörda och ha fysiska kännetecken såsom mikrocefali (litet huvud), hypertelorism (stort mellanrum mellan ögonen), nedtryckt näsrygg och en utvrängd underläpp. (sv) Синдром альфа-таласемии и умственной отсталости, также известный как синдром ATR-X (англ. X-linked alpha-thalassemia/mental retardation syndrome, Alpha-thalassemia mental retardation syndrome (ATRX), ATR-X syndrome) — генетический синдром, включающий в себя умственную отсталость, альфа-талассемию, нарушения скелета, дисморфные черты лица и аутизм. Бывает только у мальчиков. (ru) |
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| dbo:wikiPageWikiLink | dbr:BHMT2 dbr:Homocysteine dbr:Gene_cluster dbr:Gene dbr:Anemia dbr:Alpha-thalassemia dbc:Genetic_diseases_and_disorders dbr:Centromere dbr:Chromosome_16 dbr:Biosynthetic dbr:Promoter_(genetics) dbr:Regulation_of_gene_expression dbr:ATRX dbr:Telomere dbr:Hypertelorism dbc:Syndromes dbr:Coarse_facial_features dbr:Cofactor_(biochemistry) dbr:Heterochromatin dbr:DAXX dbr:Intellectual_disability dbr:Microcephaly dbr:PRDM9 dbr:Mutate dbr:Transcriptional dbr:Hypermethylated dbr:CpG_islands dbr:Skewed_X_chromosome_inactivation dbr:Alpha_globin dbr:Histone_H3.3 dbr:Xist |
| dbp:caption | Child of 8 yrs with the characteristic facial features of ATR-X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies. (en) |
| dbp:name | Alpha-thalassemia mental retardation syndrome (en) |
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| dbp:synonyms | ATR-X syndrome (en) |
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| rdfs:comment | La thalassémie alpha liée à l'X avec retard mental associe un visage caractéristique, des anomalies génitales, un retard de développement important s'associant avec un retard mental et des signes hématologiques de thalassémie alpha (fr) Zespół ATR-X (zespół alfa talasemia-opóźnienie umysłowe o dziedziczeniu sprzężonym z chromosomem X, ang. alpha thalassaemia-mental retardation, X linked) – rzadka choroba uwarunkowana genetycznie. Chorują jedynie osoby posiadające chromosom Y, dziedziczenie sprzężone jest z chromosomem X. Chorobę wywołują mutacje w genie ATRX. (pl) ATR-X syndrome (Alpha-thalassemia mental retardation syndrome) är ett tillstånd orsakat av muterad gen. Kvinnor med denna muterade gen har inga speciella tecken eller drag, men kan visa inaktivering av X-kromosom. män brukar vara måttligt utvecklingsstörda och ha fysiska kännetecken såsom mikrocefali (litet huvud), hypertelorism (stort mellanrum mellan ögonen), nedtryckt näsrygg och en utvrängd underläpp. (sv) Синдром альфа-таласемии и умственной отсталости, также известный как синдром ATR-X (англ. X-linked alpha-thalassemia/mental retardation syndrome, Alpha-thalassemia mental retardation syndrome (ATRX), ATR-X syndrome) — генетический синдром, включающий в себя умственную отсталость, альфа-талассемию, нарушения скелета, дисморфные черты лица и аутизм. Бывает только у мальчиков. (ru) Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, is an X-linked recessive condition associated with a mutation in the ATRX gene. Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no specific signs or features, but if they do, they may demonstrate skewed X chromosome inactivation. (en) Das ATR-X-Syndrom ist eine sehr seltene angeborene, nur bei männlichen Patienten auftretende Erkrankung mit schwerer Entwicklungsverzögerung, Fehlbildungen im Gesicht und am Genitale sowie einer Alpha-Thalassämie. Bei weiblichen Überträgerinnen finden sich keine körperlichen oder geistigen Auffälligkeiten. Synonyme sind: X-chromosomales Alpha-Thalassämie-Geistige Retardierung-Syndrom; ATR, Nondeletion Type Im Gegensatz zum ATR-16-Syndrom als Deletions-Typ liegt beim ATR-X-Syndrom keine Gendeletion vor. (de) |
| rdfs:label | ATR-X syndrome (en) ATR-X-Syndrom (de) Thalassémie alpha liée à l'X avec retard mental (fr) Zespół ATR-X (pl) Синдром альфа-талассемии и умственной отсталости (ru) ATR-X syndrome (sv) |
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| foaf:name | Alpha-thalassemia mental retardation syndrome (en) |
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