WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/20 11:21:05」(JST)

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Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis"^[1]^:545) is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme ceramidase that causes an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.

Diagnosis and symptoms[edit]

Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop symptoms within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthomas which thicken around joints as the disease progresses. Patients with breathing difficulty may require a breathing tube.

Prognosis[edit]

Most children with Farber disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.

Treatment[edit]

There is no specific treatment for Farber disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed.

Eponym[edit]

It is named for Sidney Farber.^[2]^[3]

Genetics[edit]

It is associated with a deficiency in ASAH1.^[4]

External links[edit]

Hide & Seek Foundation For Lysosomal Disease Research

References[edit]

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ synd/453 at Who Named It?
^ Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease". A.M.A. American journal of diseases of children 84 (4): 499–500. PMID 12975849.
^ Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family". J. Hum. Genet. 51 (9): 811–4. doi:10.1007/s10038-006-0019-z. PMID 16951918.

Lippincott's illustrated biochemistry, 4th edition

UpToDate Contents

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1. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
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3. 同種造血細胞移植の適応判定 determining eligibility for allogeneic hematopoietic cell transplantation
4. 濾胞性リンパ腫における同種造血細胞移植 allogeneic hematopoietic cell transplantation in follicular lymphoma
5. 濾胞性リンパ腫における自家造血細胞移植 autologous hematopoietic cell transplantation in follicular lymphoma

English Journal

TERT gene harbors multiple variants associated with pancreatic cancer susceptibility.

Campa D1, Rizzato C2, Stolzenberg-Solomon R3, Pacetti P4, Vodicka P5, Cleary SP6, Capurso G7, Bueno-de-Mesquita HB8,9,10,11, Werner J12, Gazouli M13, Butterbach K14, Ivanauskas A15, Giese N12, Petersen GM16, Fogar P17, Wang Z3, Bassi C18, Ryska M19, Theodoropoulos GE20, Kooperberg C21, Li D22, Greenhalf W23, Pasquali C24, Hackert T12, Fuchs CS25, Mohelnikova-Duchonova B26, Sperti C24, Funel N27, Dieffenbach AK14,28, Wareham NJ29, Buring J30, Holcátová I31, Costello E23, Zambon CF32, Kupcinskas J15, Risch HA33, Kraft P34, Bracci PM35, Pezzilli R36, Olson SH37, Sesso HD30,34, Hartge P3, Strobel O12, Małecka-Panas E38, Visvanathan K39, Arslan AA40, Pedrazzoli S41, Souček P42, Gioffreda D43, Key TJ44, Talar-Wojnarowska R38, Scarpa A45, Mambrini A4, Jacobs EJ46, Jamroziak K47, Klein A48, Tavano F43, Bambi F49, Landi S50, Austin MA51, Vodickova L5, Brenner H14,28, Chanock SJ3, Delle Fave G7, Piepoli A43, Cantore M4, Zheng W52, Wolpin BM25, Amundadottir LT3, Canzian F2.
International journal of cancer. Journal international du cancer.Int J Cancer.2015 Nov 1;137(9):2175-83. doi: 10.1002/ijc.29590. Epub 2015 Jun 19.
A small number of common susceptibility loci have been identified for pancreatic cancer, one of which is marked by rs401681 in the TERT-CLPTM1L gene region on chromosome 5p15.33. Because this region is characterized by low linkage disequilibrium, we sought to identify whether additional single nucle
PMID 25940397

NF-κB and stat3 transcription factor signatures differentiate HPV-positive and HPV-negative head and neck squamous cell carcinoma.

Gaykalova DA1, Manola JB2, Ozawa H3, Zizkova V1,4, Morton K1, Bishop JA1,5, Sharma R5, Zhang C1,6, Michailidi C1, Considine M7,3, Tan M1, Fertig EJ7,3, Hennessey PT1,8, Ahn J1, Koch WM1, Westra WH1,5, Khan Z1, Chung CH1,3, Ochs MF7,3,9, Califano JA1,10.
International journal of cancer. Journal international du cancer.Int J Cancer.2015 Oct 15;137(8):1879-89. doi: 10.1002/ijc.29558. Epub 2015 Jun 23.
Using high-throughput analyses and the TRANSFAC database, we characterized TF signatures of head and neck squamous cell carcinoma (HNSCC) subgroups by inferential analysis of target gene expression, correcting for the effects of DNA methylation and copy number. Using this discovery pipeline, we dete
PMID 25857630

Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis.

Crago AM1,2, Chmielecki J3,4, Rosenberg M4, O'Connor R1, Byrne C5, Wilder FG1, Thorn K1, Agius P5, Kuk D6, Socci ND5, Qin LX6, Meyerson M3,4,7, Hameed M8, Singer S1,2.
Genes, chromosomes & cancer.Genes Chromosomes Cancer.2015 Oct;54(10):606-15. doi: 10.1002/gcc.22272. Epub 2015 Jul 14.
CTNNB1 mutations or APC abnormalities have been observed in ∼85% of desmoids examined by Sanger sequencing and are associated with Wnt/β-catenin activation. We sought to identify molecular aberrations in "wild-type" tumors (those without CTNNB1 or APC alteration) and to determine their prognostic
PMID 26171757

Japanese Journal

Novel V97G ASAH1 mutation found in Farber disease patients : Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

CHEDRAWI Aziza K.,AL-HASSNAN Zuhair N.,AL-MUHAIZEA Muhammad,COLAK Dilek,AL-YOUNES Banan,ALBAKHEET Albandary,TULBA Sahar,KAYA Namik
Brain & development 34(5), 400-404, 2012-05-01
NAID 10031050823

My journey into the world of sphingolipids and sphingolipidoses

SANDHOFF Konrad
Proceedings of the Japan Academy, Series B 88(10), 554-582, 2012
… Purification of lysosomal acid sphingomyelinase and ceramidase and analysis of their gene structures were the prerequisites for the clarification of Niemann-Pick and Farber disease. …
NAID 130002540350

Costimulatory blockade with monoclonal antibodies to induce alloanergy in donor lymphocytes

DAVIES Jeffrey K.
International journal of hematology 93(5), 594-601, 2011-05-01
NAID 10029534998

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