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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.

People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.

Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.

You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist.

We also encourage you to explore the rest of this page to find resources that can help you find specialists. Related diseases are conditions that have similar signs and symptoms.

A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand.

You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Farber's disease.

You can help advance rare disease research! Title Other Names:. Farber disease; Farber lipogranulomatosis; Ceramidase deficiency; Farber disease; Farber lipogranulomatosis; Ceramidase deficiency; Acid ceramidase deficiency; AC deficiency; N-Laurylsphingosine deacylase deficiency See More. This disease is grouped under:. Summary Summary. Symptoms Symptoms. Showing of 68 View All. Joint inflammation. Flexed joint that cannot be straightened. Joint pain. Faltering weight. Weight faltering. Decreased muscle tone in infant.

Mental deficiency. Mental retardation. Mental retardation, nonspecific. Abnormality of the elbows. Sternal anomalies. Abnormalities of the wrists. Partial or complete collapse of part or entire lung. Brain degeneration. Brain wasting. Loss of developmental milestones. Mental deterioration in childhood. Inability to produce voice sounds. Feeding problems. Poor feeding. Enlarged liver and spleen. Inability to speak. Episodic fever. Increased body temperature, episodic.

Intermittent fever. Recurrent colds. Breathing difficulties. Difficulty breathing. Respiratory impairment. Decreased body height. Small stature. Muscle degeneration. Muscle wasting. Involuntary muscle stiffness, contraction, or spasm. Unusual facial appearance. Low number of red blood cells or hemoglobin. Accumulation of fluid in the abdomen. High liver enzymes. Liver failure. Swollen lymph nodes. Involuntary, rapid, rhythmic eye movements.

Partial paralysis of legs. Stubby finger. Short toes. Stubby toes. Low platelet count. Enlarged liver. Worsens with time. Increased spleen size. Do you have more information about symptoms of this disease?

We want to hear from you. Do you have updated information on this disease? Diagnosis Diagnosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Orphanet lists international laboratories offering diagnostic testing for this condition. Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet.


Acid ceramidase deficiency: Farber disease and SMA-PME

MIFTS : Expand all tables. MalaCards integrated aliases for Farber Lipogranulomatosis: Name: Farber Lipogranulomatosis 56 12 52 25 58 73 36 13 43 15 39 Farber Disease 56 12 52 25 58 73 29 6.


Farber's disease

Metrics details. Acid ceramidase ACDase deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease FD and a rare epileptic disorder called spinal muscular atrophy with progressive myoclonic epilepsy SMA-PME. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid ceramide. Typical textbook manifestations of classical FD include the formation of subcutaneous nodules, accumulation of joint contractures, and development of a hoarse voice. In reality, however, the clinical presentation is much broader.

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