Farber lipogranulomatosis

Preferred Label : Farber lipogranulomatosis;

Symbol : FRBRL;

CISMeF acronym : FRBRL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ac deficiency; Ceramidase deficiency; Acid ceramidase deficiency; N-laurylsphingosine deacylase deficiency; Farber disease;

Description : Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acylsphingosine amidohydrolase 1 gene (ASAH1, 613468.0001);

Laboratory abnormalities : Histiocytic infiltration of liver, spleen, and lungs; Ceramidase deficiency; Elevated urine ceramide levels;

Prefixed ID : #228000;

Details

Origin ID

228000;

UMLS CUI

C0268255;

Automatic exact mappings (from CISMeF team)
- Farber disease [MedDRA LLT]
Currated CISMeF NLP mapping
- Farber Lipogranulomatosis [NCIt concept]
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [ORDO Disease]
- Farber lipogranulomatosis [DO Concept]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber lipogranulomatosis [MeSH Descriptor]
- farber lipogranulomatosis [MeSH concept]
- farber's lipogranulomatosis [SNOMED Notion]
DO Cross reference
- Farber lipogranulomatosis [DO Concept]
Genes related to phenotype
- N-acylsphingosine amidohydrolase 1 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cherry red spot of the macula [HPO term]
- Childhood onset [HPO term]
- Decreased acid ceramidase activity [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Hoarse cry [HPO term]
- Hoarse voice [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Joint swelling [HPO term]
- Limitation of knee mobility [HPO term]
- Lipogranulomatosis [HPO term]
- Motor delay [HPO term]
- Osteolysis involving bones of the feet [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Periarticular subcutaneous nodules [HPO term]
- Progressive [HPO term]
- Recurrent fever [HPO term]
- Respiratory insufficiency [HPO term]
- Splenomegaly [HPO term]
- Subcutaneous nodule [HPO term]
- Ulnar deviation of the wrist [HPO term]
ORDO concept(s)
- Farber disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Farber Lipogranulomatosis [NCIt concept]
- Farber disease [ORDO Disease]
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [MedDRA LLT]
- Farber lipogranulomatosis [DO Concept]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber lipogranulomatosis [MeSH Descriptor]
- farber lipogranulomatosis [MeSH concept]
- farber's lipogranulomatosis [SNOMED Notion]

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