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GTR Home > Conditions/Phenotypes > Farber lipogranulomatosis

Farber lipogranulomatosis

Synonyms
AC deficiency; Acid ceramidase deficiency; Ceramidase deficiency; Farber disease; Farber's disease; Farber's lipogranulomatosis; N-Laurylsphingosine deacylase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: ASAH1-Related Disorders
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
David A Dyment
Steffany AL Bennett
Jeffrey A Medin
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Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AC, ACDase, ASAH, PHP, PHP32, SMAPME, ASAH1
    Summary: N-acylsphingosine amidohydrolase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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