Farber disease
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids 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.
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Farber disease
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids 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.
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Das Farber-Syndrom, auch Farbe ...... cherkrankheit (Thesaurismose).
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Farber disease (also known as ...... and symptoms of this disorder.
@en
La enfermedad de Farber (Lipog ...... rece antes de la adolescencia.
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La maladie de Farber (appelée ...... nulomes par voie chirurgicale.
@fr
Per malattia di Farber, in ca ...... attie da accumulo lisosomiale.
@it
Болезнь Фарбера (синдром Фарбе ...... й нервной системы и так далее.
@ru
مرض فاربر (بالإنجليزية: Farber ...... سمي هذا المرض نسبة لسدني فاربر
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ICD10
E75.2(ILDSE75.240)
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Wikipage revision ID
721,406,671
DiseasesDB
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Das Farber-Syndrom, auch Farbe ...... cherkrankheit (Thesaurismose).
@de
Farber disease (also known as ...... and symptoms of this disorder.
@en
La enfermedad de Farber (Lipog ...... rece antes de la adolescencia.
@es
La maladie de Farber (appelée ...... n intracellulaire de céramide.
@fr
Per malattia di Farber, in ca ...... attie da accumulo lisosomiale.
@it
Болезнь Фарбера (синдром Фарбе ...... й нервной системы и так далее.
@ru
مرض فاربر (بالإنجليزية: Farber ...... سمي هذا المرض نسبة لسدني فاربر
@ar
label
Enfermedad de Farber
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Farber disease
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Farber-Syndrom
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Maladie de Farber
@fr
Malattia di Farber
@it
Болезнь Фарбера
@ru
مرض فاربر
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Farber disease
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