| http://dbpedia.org/ontology/abstract
|
Fryns-Aftimos syndrome (also known as Bara … Fryns-Aftimos syndrome (also known as Baraitser-Winter Syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in 30 unrelated people. Characterized by a de novo mutation located on chromosome 7p22, there is typically no family history prior to onset. The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming a diagnosis of Fryns-Aftimos syndrome typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing. of genes of interest or exome sequencing.
|
| http://dbpedia.org/ontology/icd10
|
Q04.3
|
| http://dbpedia.org/ontology/medicalDiagnosis
|
http://dbpedia.org/resource/Exome_sequencing +
|
| http://dbpedia.org/ontology/omim
|
606155
|
| http://dbpedia.org/ontology/orpha
|
94084
|
| http://dbpedia.org/ontology/wikiPageExternalLink
|
https://www.genecards.org/cgi-bin/carddisp.pl%3Fgene=ACTB +
, https://www.sciencedirect.com/topics/medicine-and-dentistry/myogenic-blepharoptosis%23:~:text=Myogenic%20ptosis%20can%20be%20either%2Csubsequent%20replacement%20with%20adipose%20tissue +
, https://rarediseases.info.nih.gov/diseases/7300/pachygyria%23:~:text=Pachygyria%20is%20a%20developmental%20condition%2Care%20usually%20broad%20and%20flat. +
, https://www.jneurosci.org/content/35/36/12432%23:~:text=Neuronal%20heterotopia%20refers%20to%20brain%2Cneurological%20deficits%2C%20such%20as%20epilepsy. +
, https://radiopaedia.org/articles/metopic-suture%3Flang=us%23:~:text=The%20metopic%20suture%20%28also%20known%2Cis%20present%20in%20a%20newborn +
, https://www.aao.org/eye-health/diseases/what-is-coloboma%23:~:text=A%20coloboma%20describes%20conditions%20where%2Cfirst%20three%20months%20of%20growth +
, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292104/%23:~:text=INTRODUCTION%2CIPD%29%20to%20record%20its%20presence +
, https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html%23:~:text=Microcephaly%20is%20a%20condition%20where%2Cin%20a%20smaller%20head%20size. +
|
| http://dbpedia.org/ontology/wikiPageID
|
54870385
|
| http://dbpedia.org/ontology/wikiPageLength
|
14807
|
| http://dbpedia.org/ontology/wikiPageRevisionID
|
1099943709
|
| http://dbpedia.org/ontology/wikiPageWikiLink
|
http://dbpedia.org/resource/Contiguous_gene_syndrome +
, http://dbpedia.org/resource/Category:Chromosomal_abnormalities +
, http://dbpedia.org/resource/Karyotype +
, http://dbpedia.org/resource/Drug_resistance +
, http://dbpedia.org/resource/Zygosity +
, http://dbpedia.org/resource/Chromosome_abnormalities +
, http://dbpedia.org/resource/Noonan_syndrome +
, http://dbpedia.org/resource/Polytherapy +
, http://dbpedia.org/resource/Mental_retardation +
, http://dbpedia.org/resource/Deafness +
, http://dbpedia.org/resource/Cleft_lip_and_cleft_palate +
, http://dbpedia.org/resource/Epilepsy +
, http://dbpedia.org/resource/Coloboma +
, http://dbpedia.org/resource/Category:Cytogenetics +
, http://dbpedia.org/resource/Exome_sequencing +
, http://dbpedia.org/resource/Aneuploidy +
, http://dbpedia.org/resource/Lissencephaly +
, http://dbpedia.org/resource/Category:Rare_syndromes +
, http://dbpedia.org/resource/Pachygyria +
, http://dbpedia.org/resource/Hypertelorism +
, http://dbpedia.org/resource/Congenital_heart_defect +
|
| http://dbpedia.org/property/causes
|
De novo mutation, autosomal dominant
|
| http://dbpedia.org/property/diagnosis
|
Serial single-gene testing, multigene panel, exome sequencing
|
| http://dbpedia.org/property/frequency
|
Rare: fewer than 50 cases reported in medical literature
|
| http://dbpedia.org/property/icd
|
Q04.3
|
| http://dbpedia.org/property/name
|
Fryns-Aftimos syndrome
|
| http://dbpedia.org/property/omim
|
606155
|
| http://dbpedia.org/property/orphanet
|
94084
|
| http://dbpedia.org/property/prognosis
|
Poor with severe brain abnormalities, but milder cases can reach dependent adulthood
|
| http://dbpedia.org/property/synonyms
|
Baraitser-Winter Syndrome 1 , Cerebro-oculo-facial-lymphatic Syndrome, Chromosome 7p22 Deletion Syndrome
|
| http://dbpedia.org/property/wikiPageUsesTemplate
|
http://dbpedia.org/resource/Template:Orphan +
, http://dbpedia.org/resource/Template:Chromosomal_abnormalities +
, http://dbpedia.org/resource/Template:Columns-list +
, http://dbpedia.org/resource/Template:Medical_resources +
, http://dbpedia.org/resource/Template:Reflist +
, http://dbpedia.org/resource/Template:Infobox_medical_condition_%28new%29 +
|
| http://purl.org/dc/terms/subject
|
http://dbpedia.org/resource/Category:Chromosomal_abnormalities +
, http://dbpedia.org/resource/Category:Cytogenetics +
, http://dbpedia.org/resource/Category:Rare_syndromes +
|
| http://www.w3.org/ns/prov#wasDerivedFrom
|
http://en.wikipedia.org/wiki/Fryns-Aftimos_syndrome?oldid=1099943709&ns=0 +
|
| http://xmlns.com/foaf/0.1/isPrimaryTopicOf
|
http://en.wikipedia.org/wiki/Fryns-Aftimos_syndrome +
|
| http://xmlns.com/foaf/0.1/name
|
Fryns-Aftimos syndrome
|
| owl:sameAs |
http://dbpedia.org/resource/Fryns-Aftimos_syndrome +
, https://global.dbpedia.org/id/3c8ko +
, http://www.wikidata.org/entity/Q39048671 +
|
| rdf:type |
http://www.wikidata.org/entity/Q12136 +
, http://dbpedia.org/ontology/Disease +
|
| rdfs:comment |
Fryns-Aftimos syndrome (also known as Bara … Fryns-Aftimos syndrome (also known as Baraitser-Winter Syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in 30 unrelated people. Characterized by a de novo mutation located on chromosome 7p22, there is typically no family history prior to onset. The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming a diagnosis of Fryns-Aftimome. Confirming a diagnosis of Fryns-Aftimo
|
| rdfs:label |
Fryns-Aftimos syndrome
|
