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Farber-Lipogranulomatose; Farber-Krankheit; Ceramidase-Mangel

FARBER DISEASE

Disease	FARBER DISEASE
Synonym	ASAH1; FARBER LIPOGRANULOMATOSIS; LIPOGRANULOMATOSIS; CERAMIDASE DEFICIENCY
OMIM	228000 OMIM = Online Mendelian Inheritance of Men
Orphanet	333
Protein (UniProt)	Acid ceramidase
ExPASy	3.5.1.23
Gene locus	8p22 Detail information to gene locus by the National Center for Biotechnology Information NCBI: N-acylsphingosine amidohydrolase (acid ceramidase)
ICD	E75.2
Summary	rare autosomal recessive
Laboratory findings	Acid ceramidase dec (fibroblasts) Protein normal/inc (cerebrospinal fluid)
Symptoms	hoarse cry nodules, subcutaneous arthritis cherry-red spot on retinal macula failure to thrive hepatomegaly (large liver) hypotonia irritability joint swelling pain, bones or joints psychomotor retardation seizures splenomegaly (large spleen) early death hydrops fetalis jaundice liver involvement or dysfunction mental retardation motor retardation onset, infancy onset, neonatal screaming or crying, abnormal