Details of Disease

General Information of Disease (ID: DISYBNUG)

• Disease Name: Farber lipogranulomatosis
• Synonyms: N-Laurylsphingosine deacylase deficiency; Farber's disease; FRBRL; AC deficiency; ceramidase deficiency; acid ceramidase deficiency; N-LAURYLSPHINGOSINE deacylase deficiency; Farber lipogranulomatosis; Farber disease
• Definition: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
• Disease Hierarchy:
  DISVPLB4: ASAH1-related disorders
  DIS1MTJJ: ASAH1-related sphingolipidosis
  DISYBNUG: Farber lipogranulomatosis
• Disease Identifiers:
  MONDO ID: MONDO_0009218
  MESH ID: D055577
  UMLS CUI: C0268255
  OMIM ID: 228000
  MedGen ID: 78654
  Orphanet ID: 333
  SNOMED CT ID: 79935000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GALC	TT5IZRB	Strong	Genetic Variation	[1]
SMPD1	TTJTM88	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASAH1	OT1DNGXL	Definitive	Autosomal recessive	[3]

References

• [1] Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.Proc Natl Acad Sci U S A. 2019 Oct 1;116(40):20097-20103. doi: 10.1073/pnas.1912108116. Epub 2019 Sep 16.
• [2] Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.Int J Mol Sci. 2019 Dec 11;20(24):6253. doi: 10.3390/ijms20246253.
• [3] Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. J Hum Genet. 2006;51(9):811-814. doi: 10.1007/s10038-006-0019-z. Epub 2006 Sep 2.