Farber lipogranulomatosis
Findings
No curated finding names Farber lipogranulomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009218), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
79 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hyperextensibility of the finger jointsHPOHP:0001187
- 1 of 1 reported patient
- Joint swellingHPOHP:0001386
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Limitation of knee mobilityHPOHP:0010501
- 1 of 1 reported patient
- Osteolysis involving bones of the feetHPOHP:0009134
- 1 of 1 reported patient
Show the remaining 67
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Periarticular subcutaneous nodulesHPOHP:0007470
- Very frequent (80% to 99% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ASAH1HGNC:735
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Farber lipogranulomatosis
- Also called
- acid ceramidase deficiencyFarber diseaseN-LAURYLSPHINGOSINE deacylase deficiency