About: Familial benign copper deficiency

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Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes symptoms such as epilepsy, hypotonia, seborrheic skin, thriving failure and mild anemia. Radiological findings include tibia and femur spurring. Transmission is thought to be either autosomal dominant or X-linked dominant. Symptoms are caused by a familial tendency of having low levels of copper within the body and can be improved (treated and managed) with oral supplements of copper.

Attributes	Values
rdf:type	Thing Fuchs' dystrophy disease
rdfs:label	Familial benign copper deficiency (en)
rdfs:comment	Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes symptoms such as epilepsy, hypotonia, seborrheic skin, thriving failure and mild anemia. Radiological findings include tibia and femur spurring. Transmission is thought to be either autosomal dominant or X-linked dominant. Symptoms are caused by a familial tendency of having low levels of copper within the body and can be improved (treated and managed) with oral supplements of copper. (en)
name	Familial benign copper deficiency (en)
dcterms:subject	Rare genetic syndromes
Wikipage page ID	71328767 (xsd:integer)
Wikipage revision ID	1099204264 (xsd:integer)
Link from a Wikipage to another Wikipage	Epilepsy Hungarians Hypocupremia Rare genetic syndromes Genetic disorder Copper Copper deficiency Anemia Medical genetics List of bones of the human skeleton Femur Hypotonia Dominance (genetics) Physical examination Seborrhea X-linked dominant inheritance Blood testing
sameAs	Familial benign copper deficiency Familial benign copper deficiency
specialty	Medical genetics
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Use_dmy_dates dbt:Infobox_medical_condition
deaths	– (en)
diagnosis	Physical examination Blood testing
onset	Infancy (en)
symptoms	Skin and mild vascular abnormalities (en)
treatment	Oral supplements of copper. (en)
causes	X-linked dominant or Autosomal dominant genetic mutation. (en)
duration	Lifelong (en)
synonyms	Familial benign hypocupremia, Copper deficiency familial benign. (en)
has abstract	Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes symptoms such as epilepsy, hypotonia, seborrheic skin, thriving failure and mild anemia. Radiological findings include tibia and femur spurring. Transmission is thought to be either autosomal dominant or X-linked dominant. Symptoms are caused by a familial tendency of having low levels of copper within the body and can be improved (treated and managed) with oral supplements of copper. It has been described in members of a 3-generation Hungarian family. (en)
medication	Oral supplements of copper (en)
prevention	none (en)
prognosis	Good (en)
prov:wasDerivedFrom	wikipedia-en:Familial_benign_copper_deficiency?oldid=1099204264&ns=0
page length (characters) of wiki page	4396 (xsd:nonNegativeInteger)
alias	Familial benign hypocupremia, Copper deficiency familial benign. (en)
foaf:isPrimaryTopicOf	wikipedia-en:Familial_benign_copper_deficiency
is foaf:primaryTopic of	wikipedia-en:Familial_benign_copper_deficiency

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