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Farber's lipogranulomatosis

MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
Synonyms: AC DEFICIENCY; AC deficiency; ACID CERAMIDASE DEFICIENCY; Acid ceramidase deficiency; CERAMIDASE DEFICIENCY; Ceramidase deficiency; FARBER DISEASE; Farber disease; FARBER LIPOGRANULOMATOSIS; Farber lipogranulomatosis; Farber Lipogranulomatosis; Farber's disease; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; N-Laurylsphingosine deacylase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Farber lipogranulomatosis (79935000); Ceramidase deficiency (79935000); Farber disease (79935000); Farber's lipogranulomatosis (79935000); Farber's disease (79935000); Acid ceramidase deficiency (79935000); Disseminated lipogranulomatosis (79935000); Farber-Uzman syndrome (79935000); Acylsphingosine deacylase deficiency (79935000)
 
Gene: ASAH1
Cytogenetic location: 8p22
OMIM: 228000

Definition

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). [from OMIM]

Additional description

From GHR
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features. Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.  http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis

Clinical features

Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Abnormality of the macula
MedGen UID:
446392
Concept ID:
CN001036
Finding
An abnormality of the `macula lutea` (FMA:58637) is an oval-shaped highly pigmented yellow spot near the center of the retina.
Irritability
MedGen UID:
5898
Concept ID:
C0022107
Finding
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197).
Abnormality of the skin
MedGen UID:
504656
Concept ID:
CN000890
Finding
An abnormality of the `skin` (FMA:7163).
Periarticular subcutaneous nodules
MedGen UID:
429114
Concept ID:
CN006549
Finding
Subcutaneous nodules that are located in the vicinity of joints.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Laryngomalacia
MedGen UID:
504867
Concept ID:
CN001457
Finding
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Pulmonary fibrosis
MedGen UID:
505156
Concept ID:
CN002000
Finding
Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFarber's lipogranulomatosis

Recent clinical studies

Diagnosis

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG
Mol Genet Metab 2013 Jul;109(3):276-81. Epub 2013 May 4 doi: 10.1016/j.ymgme.2013.04.019. [Epub ahead of print] PMID: 23707712
Levade T, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R
J Neurol Sci 1995 Dec;134(1-2):108-14. PMID: 8747852
Vaidya VU, Bharucha BA, Kagalwala TY, Pandya AL, Kumta NB
Indian Pediatr 1987 Aug;24(8):673-5. PMID: 3327826
Pavone L, Moser HW, Mollica F, Reitano C, Durand P
Johns Hopkins Med J 1980 Nov;147(5):193-6. PMID: 7441940

Prognosis

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG
Mol Genet Metab 2013 Jul;109(3):276-81. Epub 2013 May 4 doi: 10.1016/j.ymgme.2013.04.019. [Epub ahead of print] PMID: 23707712
Levade T, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R
J Neurol Sci 1995 Dec;134(1-2):108-14. PMID: 8747852

Clinical prediction guides

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG
Mol Genet Metab 2013 Jul;109(3):276-81. Epub 2013 May 4 doi: 10.1016/j.ymgme.2013.04.019. [Epub ahead of print] PMID: 23707712

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