About: CAMFAK syndrome

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An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)

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http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FCAMFAK_syndrome

CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis.

Attributes	Values
rdf:type	Thing company Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	CAMFAK syndrome (en) Zespół CAMFAK (pl)
rdfs:comment	CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis. (en) Zespół CAMFAK (ang. CAMFAK syndrome) – rzadki zespół wad wrodzonych, o możliwym autosomalnie recesywnym sposobie dziedziczenia, charakteryzujący się ośrodkowymi i obwodowymi objawami neurologicznymi wynikającymi z demielinizacji nerwów. Przypomina pod tym względem zespół Cockayne’a. Nazwa zespołu jest akronimem utworzonym od pierwszych liter objawów opisanych u pierwszych pacjentów przez Lowry'ego i wsp. w 1971 roku. Objawy te to: * obustronna zaćma (cataracts) * mikrocefalia (microcephaly) * niechęć do ssania (failure to thrive) * (kyphoscoliosis). (pl)
foaf:name	CAMFAK syndrome (en)
name	CAMFAK syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Congenital disorders Rare syndromes Genetic disorders with OMIM but no gene Demyelinating diseases of CNS
Wikipage page ID	13406766 (xsd:integer)
Wikipage revision ID	1046390301 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataract Inheritance Cockayne syndrome Genetic carrier Autosomal recessive disorders Acronym Failure to thrive Congenital disorders Rare syndromes Arthrogryposis Genetic disorders with OMIM but no gene Demyelinating diseases of CNS Autosome Kyphoscoliosis Microcephaly Neurology Demyelination
Link from a Wikipage to an external page	https://archive.today/20121210060221/http:/www3.interscience.wiley.com/cgi-bin/abstract/110519870/ABSTRACT%3FCRETRY=1&SRETRY=0
sameAs	CAMFAK syndrome CAMFAK syndrome CAMFAK syndrome CAMFAK syndrome CAMFAK syndrome
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Cite_journal dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:More_citations_needed dbt:Reflist dbt:Demyelinating_diseases_of_CNS
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
DiseasesDB	33725 (xsd:integer)
OMIM	212540 (xsd:integer)
Orphanet	1317 (xsd:integer)
caption	CAMFAK syndrome has an autosomal recessive pattern of inheritance. (en)
synonyms	Cataract-microcephaly-arthrogryposis-kyphosis syndrome, Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome (en)
has abstract	CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis. (en) Zespół CAMFAK (ang. CAMFAK syndrome) – rzadki zespół wad wrodzonych, o możliwym autosomalnie recesywnym sposobie dziedziczenia, charakteryzujący się ośrodkowymi i obwodowymi objawami neurologicznymi wynikającymi z demielinizacji nerwów. Przypomina pod tym względem zespół Cockayne’a. Nazwa zespołu jest akronimem utworzonym od pierwszych liter objawów opisanych u pierwszych pacjentów przez Lowry'ego i wsp. w 1971 roku. Objawy te to: * obustronna zaćma (cataracts) * mikrocefalia (microcephaly) * niechęć do ssania (failure to thrive) * (kyphoscoliosis). Ponadto często stwierdza się artrogrypozę i charakterystyczny zestaw cech dysmorficznych twarzy, nadających jej „ptasi” wygląd, przypominający nieco fenotyp zespołu Seckla. (pl)
gold:hypernym	Acronym
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
prov:wasDerivedFrom	wikipedia-en:CAMFAK_syndrome?oldid=1046390301&ns=0
page length (characters) of wiki page	3366 (xsd:nonNegativeInteger)
DiseasesDB	33725
OMIM id	212540 (xsd:integer)
ORPHA	1317
foaf:isPrimaryTopicOf	wikipedia-en:CAMFAK_syndrome
is Link from a Wikipage to another Wikipage of	CAMAK syndrome Camfak syndrome Cockayne syndrome List of syndromes Cataract-microcephaly-failure to thrive-kyphoscoliosis
is Wikipage redirect of	CAMAK syndrome

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