Atransferrinemia

Atransferrinemia
Classification and external resources
ICD-9-CM	273.8
OMIM	209300
DiseasesDB	29538

Atransferrinemia, also called familial hypotransferrinemia,^[1] is an autosomal recessive^[2] metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.

Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia is extremely rare, with only eight cases documented worldwide.^[3]

Symptoms 1
Genetics 2
Treatment 3
References 4
External links 5

Symptoms

Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia. require('Module:No globals')

local p = {}

-- articles in which traditional Chinese preceeds simplified Chinese local t1st = { ["228 Incident"] = true, ["Chinese calendar"] = true, ["Lippo Centre, Hong Kong"] = true, ["Republic of China"] = true, ["Republic of China at the 1924 Summer Olympics"] = true, ["Taiwan"] = true, ["Taiwan (island)"] = true, ["Taiwan Province"] = true, ["Wei Boyang"] = true, }

-- the labels for each part local labels = { ["c"] = "Chinese", ["s"] = "simplified Chinese", ["t"] = "traditional Chinese", ["p"] = "pinyin", ["tp"] = "Tongyong Pinyin", ["w"] = "Wade–Giles", ["j"] = "Jyutping", ["cy"] = "Cantonese Yale", ["poj"] = "Pe̍h-ōe-jī", ["zhu"] = "Zhuyin Fuhao", ["l"] = "literally", }

-- article titles for wikilinks for each part local wlinks = { ["c"] = "Chinese language", ["s"] = "simplified Chinese characters", ["t"] = "traditional Chinese characters", ["p"] = "pinyin", ["tp"] = "Tongyong Pinyin", ["w"] = "Wade–Giles", ["j"] = "Jyutping", ["cy"] = "Yale romanization of Cantonese", ["poj"] = "Pe̍h-ōe-jī", ["zhu"] = "Bopomofo", }

-- for those parts which are to be treated as languages their ISO code local ISOlang = { ["c"] = "zh", ["t"] = "zh-Hant", ["s"] = "zh-Hans", ["p"] = "zh-Latn-pinyin", ["tp"] = "zh-Latn", ["w"] = "zh-Latn-wadegile", ["j"] = "yue-jyutping", ["cy"] = "yue", ["poj"] = "hak", ["zhu"] = "zh-Bopo", }

local italic = { ["p"] = true, ["tp"] = true, ["w"] = true, ["j"] = true, ["cy"] = true, ["poj"] = true, } -- Categories for different kinds of Chinese text local cats = { ["c"] = "", ["s"] = "", ["t"] = "", }

function p.Zh(frame) -- load arguments module to simplify handling of args local getArgs = require('Module:Arguments').getArgs local args = getArgs(frame) return p._Zh(args) end function p._Zh(args) local uselinks = not (args["links"] == "no") -- whether to add links local uselabels = not (args["labels"] == "no") -- whether to have labels local capfirst = args["scase"] ~= nil

        local t1 = false -- whether traditional Chinese characters go first
        local j1 = false -- whether Cantonese Romanisations go first
        local testChar
        if (args["first"]) then
                 for testChar in mw.ustring.gmatch(args["first"], "%a+") do
          if (testChar == "t") then
           t1 = true
           end
          if (testChar == "j") then
           j1 = true
           end
         end
        end
        if (t1 == false) then
         local title = mw.title.getCurrentTitle()
         t1 = t1st[title.text] == true
        end

-- based on setting/preference specify order local orderlist = {"c", "s", "t", "p", "tp", "w", "j", "cy", "poj", "zhu", "l"} if (t1) then orderlist[2] = "t" orderlist[3] = "s" end if (j1) then orderlist[4] = "j" orderlist[5] = "cy" orderlist[6] = "p" orderlist[7] = "tp" orderlist[8] = "w" end -- rename rules. Rules to change parameters and labels based on other parameters if args["hp"] then -- hp an alias for p ([hanyu] pinyin) args["p"] = args["hp"] end if args["tp"] then -- if also Tongyu pinyin use full name for Hanyu pinyin labels["p"] = "Hanyu Pinyin" end if (args["s"] and args["s"] == args["t"]) then -- Treat simplified + traditional as Chinese if they're the same args["c"] = args["s"] args["s"] = nil args["t"] = nil elseif (not (args["s"] and args["t"])) then -- use short label if only one of simplified and traditional labels["s"] = labels["c"] labels["t"] = labels["c"] end local body = "" -- the output string local params -- for creating HTML spans local label -- the label, i.e. the bit preceeding the supplied text local val -- the supplied text -- go through all possible fields in loop, adding them to the output for i, part in ipairs(orderlist) do if (args[part]) then -- build label label = "" if (uselabels) then label = labels[part] if (capfirst) then label = mw.language.getContentLanguage():ucfirst(

Genetics

Atransferrinemia has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are defective.

A case study was done in 1961 on a 7-year-old girl who died of heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an autosomal recessive pattern.^[4] Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States^[5] and identified mutations in the TF gene as a probable cause of the disorder.

Treatment

Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.

References

-- Module:Hatnote -- -- -- -- This module produces hatnote links and links to related articles. It -- -- implements the and meta-templates and includes -- -- helper functions for other Lua hatnote modules. --

local libraryUtil = require('libraryUtil') local checkType = libraryUtil.checkType local mArguments -- lazily initialise Module:Arguments local yesno -- lazily initialise Module:Yesno

local p = {}

-- Helper functions

local function getArgs(frame) -- Fetches the arguments from the parent frame. Whitespace is trimmed and -- blanks are removed. mArguments = require('Module:Arguments') return mArguments.getArgs(frame, {parentOnly = true}) end

local function removeInitialColon(s) -- Removes the initial colon from a string, if present. return s:match('^:?(.*)') end

function p.findNamespaceId(link, removeColon) -- Finds the namespace id (namespace number) of a link or a pagename. This -- function will not work if the link is enclosed in double brackets. Colons -- are trimmed from the start of the link by default. To skip colon -- trimming, set the removeColon parameter to true. checkType('findNamespaceId', 1, link, 'string') checkType('findNamespaceId', 2, removeColon, 'boolean', true) if removeColon ~= false then link = removeInitialColon(link) end local namespace = link:match('^(.-):') if namespace then local nsTable = mw.site.namespaces[namespace] if nsTable then return nsTable.id end end return 0 end

function p.formatPages(...) -- Formats a list of pages using formatLink and returns it as an array. Nil -- values are not allowed. local pages = {...} local ret = {} for i, page in ipairs(pages) do ret[i] = p._formatLink(page) end return ret end

function p.formatPageTables(...) -- Takes a list of page/display tables and returns it as a list of -- formatted links. Nil values are not allowed. local pages = {...} local links = {} for i, t in ipairs(pages) do checkType('formatPageTables', i, t, 'table') local link = t[1] local display = t[2] links[i] = p._formatLink(link, display) end return links end

function p.makeWikitextError(msg, helpLink, addTrackingCategory) -- Formats an error message to be returned to wikitext. If -- addTrackingCategory is not false after being returned from -- Module:Yesno, and if we are not on a talk page, a tracking category -- is added. checkType('makeWikitextError', 1, msg, 'string') checkType('makeWikitextError', 2, helpLink, 'string', true) yesno = require('Module:Yesno') local title = mw.title.getCurrentTitle() -- Make the help link text. local helpText if helpLink then helpText = ' (help)' else helpText = end -- Make the category text. local category if not title.isTalkPage and yesno(addTrackingCategory) ~= false then category = 'Hatnote templates with errors' category = string.format( '%s:%s', mw.site.namespaces[14].name, category ) else category = end return string.format( '%s', msg, helpText, category ) end

-- Format link -- -- Makes a wikilink from the given link and display values. Links are escaped -- with colons if necessary, and links to sections are detected and displayed -- with " § " as a separator rather than the standard MediaWiki "#". Used in -- the template.

function p.formatLink(frame) local args = getArgs(frame) local link = args[1] local display = args[2] if not link then return p.makeWikitextError( 'no link specified', 'Template:Format hatnote link#Errors', args.category ) end return p._formatLink(link, display) end

function p._formatLink(link, display) -- Find whether we need to use the colon trick or not. We need to use the -- colon trick for categories and files, as otherwise category links -- categorise the page and file links display the file. checkType('_formatLink', 1, link, 'string') checkType('_formatLink', 2, display, 'string', true) link = removeInitialColon(link) local namespace = p.findNamespaceId(link, false) local colon if namespace == 6 or namespace == 14 then colon = ':' else colon = end -- Find whether a faux display value has been added with the | magic -- word. if not display then local prePipe, postPipe = link:match('^(.-)|(.*)$') link = prePipe or link display = postPipe end -- Find the display value. if not display then local page, section = link:match('^(.-)#(.*)$') if page then display = page .. ' § ' .. section end end -- Assemble the link. if display then return string.format('%s', colon, link, display) else return string.format('%s%s', colon, link) end end

-- Hatnote -- -- Produces standard hatnote text. Implements the template.

function p.hatnote(frame) local args = getArgs(frame) local s = args[1] local options = {} if not s then return p.makeWikitextError( 'no text specified', 'Template:Hatnote#Errors', args.category ) end options.extraclasses = args.extraclasses options.selfref = args.selfref return p._hatnote(s, options) end

function p._hatnote(s, options) checkType('_hatnote', 1, s, 'string') checkType('_hatnote', 2, options, 'table', true) local classes = {'hatnote'} local extraclasses = options.extraclasses local selfref = options.selfref if type(extraclasses) == 'string' then classes[#classes + 1] = extraclasses end if selfref then classes[#classes + 1] = 'selfref' end return string.format( '

', table.concat(classes, ' '), s )

end

return p-------------------------------------------------------------------------------- -- Module:Hatnote -- -- -- -- This module produces hatnote links and links to related articles. It -- -- implements the and meta-templates and includes -- -- helper functions for other Lua hatnote modules. --

local libraryUtil = require('libraryUtil') local checkType = libraryUtil.checkType local mArguments -- lazily initialise Module:Arguments local yesno -- lazily initialise Module:Yesno

local p = {}

-- Helper functions

local function removeInitialColon(s) -- Removes the initial colon from a string, if present. return s:match('^:?(.*)') end

-- Hatnote -- -- Produces standard hatnote text. Implements the template.

', table.concat(classes, ' '), s )

end

return p

^ Online 'Mendelian Inheritance in Man' (OMIM) 209300
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External links

WedMD's Concise Definition
Elaborate Explanation of Symptoms and Genetic Inheritance

Atransferrinemia