Farber Disease
Description
Farber disease is 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.
Clinical Features
Top most frequent phenotypes and symptoms related to Farber Disease
- Intellectual disability
- Global developmental delay
- Short stature
- Nystagmus
- Failure to thrive
- Anemia
- Motor delay
- Hepatomegaly
- Respiratory insufficiency
- Respiratory distress
And another 35 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Farber Disease Is also known as acid ceramidase deficiency, ac deficiency, farber lipogranulomatosis, ceramidase deficiency, farber disease, n-laurylsphingosine deacylase deficiency.
Researches and researchers
Doctors, researchs, and experts related to Farber Disease extracted from public data.
Farber Disease Experts map
Current Researchs and researchers
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LYON — Dr Marie-Thérèse VANIER
Coordinator of research network
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Institution/s:
— INSERM U 820, Faculté de médecine - RTH Laënnec -
Research area/topic::
Réseau sur les maladies de surcharge lysosomales
-
Institution/s:
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ROSTOCK — Pr Arndt ROLFS
Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
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Institution/s:
— Albrecht-Kossel-Institute for Neuroregeneration (AKos)
— Albrecht-Kossel-Institute for Neuroregeneration (AKos)
— Centogene AG -
Research area/topic::
Biomarker for Farber disease (BioFarber): An international, multicenter, epidemiological protocol
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Institution/s:
Farber Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)
View the complete list with 64 more genes
Specificity
2 %
Genes
50 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
50 % |
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
50 % |
Lysosomal Storage Disease Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
50 % |
Epilepsy Panel - Comprehensive.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)
View the complete list with 49 more genes
Specificity
2 %
Genes
50 % |
Lysosomal Storage Disease Panel.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)
View the complete list with 30 more genes
Specificity
2 %
Genes
50 % |
CHOP Epilepsy Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...)
View the complete list with 64 more genes
Specificity
2 %
Genes
50 % |
Farber lipogranulomatosis (sequence analysis of ASAH1 gene).
By CGC Genetics (Portugal).
ASAH1
Specificity
100 %
Genes
50 % |
You can get up to 47 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C MEGALOBLASTIC ANEMIA 1 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2