Page last updated: 2024-09-27

Acid Ceramidase Deficiency

A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.

Synonyms(6)

Synonym
Farber's Disease
N-Laurylsphingosine Deacylase Deficiency
Farber Disease
Ceramidase Deficiency
Acid Ceramidase Deficiency
Farber Lipogranulomatosis

Research Excerpts

Overview

ExcerptReference
"Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation."( Becker, KA; Beckmann, N; Carpinteiro, A; Edwards, MJ; Gulbins, E; Kadow, S; Kleuser, B; Kramer, M; Kühn, C; Schulz-Schaeffer, WJ; Schumacher, F, 2019)

Treatment

ExcerptReference
"No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan."( Becker, KA; Beckmann, N; Carpinteiro, A; Edwards, MJ; Gulbins, E; Kadow, S; Kleuser, B; Kramer, M; Kühn, C; Schulz-Schaeffer, WJ; Schumacher, F, 2019)

Research

Studies (7)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's6 (85.71)28.8240
2020's1 (14.29)9.53
DrugIndicatedRelationship StrengthStudiesTrials
amitriptyline0low10
fluorometholone0low10
trolamine salicylate0low30
sphingosine0low10
sphingosine 1-phosphate0low10
glycolipids0low10

Protein Targets (184)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
thioredoxin reductase1001
USP1 protein, partial2002
NFKB1 protein, partial1001
GLS protein1001
cytochrome P450 family 3 subfamily A polypeptide 41001
cytochrome P450 2D61001
arylsulfatase A1001
cytochrome P450 2D6 isoform 11001
D(1A) dopamine receptor1001
chromobox protein homolog 11001
atrial natriuretic peptide receptor 2 precursor1001
serine/threonine-protein kinase mTOR isoform 11001
nuclear factor erythroid 2-related factor 2 isoform 11001
muscarinic acetylcholine receptor M11001
Solute carrier family 22 member 1 0101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Voltage-dependent L-type calcium channel subunit alpha-1F0101
5-hydroxytryptamine receptor 40202
Bile salt export pump0202
Albumin0011
High affinity nerve growth factor receptor0123
Aldo-keto reductase family 1 member B10202
Muscarinic acetylcholine receptor M20202
Muscarinic acetylcholine receptor M40202
Muscarinic acetylcholine receptor M10101
Muscarinic acetylcholine receptor M30101
Muscarinic acetylcholine receptor M40101
5-hydroxytryptamine receptor 2C0101
Muscarinic acetylcholine receptor M50101
Muscarinic acetylcholine receptor M50202
Alpha-2A adrenergic receptor0202
Muscarinic acetylcholine receptor M20101
Muscarinic acetylcholine receptor M10202
Angiotensin-converting enzyme0202
D(2) dopamine receptor0202
5-hydroxytryptamine receptor 2A0101
Alpha-2B adrenergic receptor0202
Alpha-2C adrenergic receptor0202
5-hydroxytryptamine receptor 1A0202
Muscarinic acetylcholine receptor M30202
D(1A) dopamine receptor0202
D(1B) dopamine receptor0101
UDP-glucuronosyltransferase 1A40001
Sodium-dependent noradrenaline transporter 0202
Histamine H2 receptor0202
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2A0202
5-hydroxytryptamine receptor 2C0202
5-hydroxytryptamine receptor 1B0202
5-hydroxytryptamine receptor 1D0101
5-hydroxytryptamine receptor 1F0101
5-hydroxytryptamine receptor 2B0101
5-hydroxytryptamine receptor 60101
Histamine H1 receptor0101
Sodium-dependent serotonin transporter0314
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 5A0101
5-hydroxytryptamine receptor 5B0101
Histamine H1 receptor0202
D(3) dopamine receptor0202
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 4 subunit alpha0101
UDP-glucuronosyltransferase 1A30001
5-hydroxytryptamine receptor 3A0101
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0101
Histamine H2 receptor1103
D(1A) dopamine receptor1001
5-hydroxytryptamine receptor 60202
5-hydroxytryptamine receptor 70101
Voltage-dependent N-type calcium channel subunit alpha-1B0101
Sodium channel protein type 7 subunit alpha0101
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
Sodium-dependent dopamine transporter 0202
Potassium voltage-gated channel subfamily H member 20202
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Sigma non-opioid intracellular receptor 10011
5-hydroxytryptamine receptor 4 0101
Nuclear receptor subfamily 3 group C member 3 0202
Canalicular multispecific organic anion transporter 10101
Sodium channel protein type 2 subunit alpha0101
Ataxin-21001
Sigma non-opioid intracellular receptor 10202
5-hydroxytryptamine receptor 3B0101
Sodium channel protein type 3 subunit alpha0101
Sodium channel protein type 11 subunit alpha0101
Sodium channel protein type 8 subunit alpha0101
Histamine H3 receptor0101
Sodium channel protein type 10 subunit alpha0101
RAR-related orphan receptor gamma2002
GLI family zinc finger 31001
AR protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor1001
glucocorticoid receptor [Homo sapiens]1001
retinoic acid nuclear receptor alpha variant 11001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
G1001
euchromatic histone-lysine N-methyltransferase 21001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear receptor subfamily 1, group I, member 21001
Histone H2A.x1001
lysosomal alpha-glucosidase preproprotein1001
huntingtin isoform 21001
flap endonuclease 11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
nuclear receptor ROR-gamma isoform 11001
DNA polymerase kappa isoform 11001
Nuclear receptor subfamily 1 group I member 20011
Interferon beta1001
HLA class I histocompatibility antigen, B alpha chain 1001
Glucocorticoid receptor0202
Glycine receptor subunit alpha-10202
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Androgen receptor0202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
TAR DNA-binding protein 431001
Inositol hexakisphosphate kinase 11001
Nuclear receptor subfamily 1 group I member 20011
cytochrome P450 2C9, partial1001
Chain A, Ferritin light chain1001
Chain A, Cruzipain1001
Luciferase1001
acid sphingomyelinase1001
endonuclease IV1001
phosphopantetheinyl transferase1001
ATAD5 protein, partial1001
TDP1 protein1001
Microtubule-associated protein tau1001
apical membrane antigen 1, AMA11001
glucocerebrosidase1001
alpha-galactosidase1001
IDH11001
Bloom syndrome protein isoform 11001
vitamin D3 receptor isoform VDRA1001
thyroid hormone receptor beta isoform a1001
potassium voltage-gated channel subfamily H member 2 isoform d1001
C-X-C chemokine receptor type 5 isoform 10101
DNA polymerase beta1001
mitogen-activated protein kinase 11001
ubiquitin-conjugating enzyme E2 N0101
C-C chemokine receptor type 60101
apelin receptor0101
DNA polymerase eta isoform 11001
DNA polymerase iota isoform a (long)1001
bcl-2-related protein A10101
geminin1001
streptokinase A precursor0011
lamin isoform A-delta101001
Endoglycoceramidase II 0001
Protein kinase C alpha type0101
Estrogen receptor0011
Protein kinase C delta type0101
Protein kinase C epsilon type0101
Protein kinase C zeta type0101
cAMP-dependent protein kinase catalytic subunit alpha 0101
Protein kinase C gamma type0101
Protein kinase C beta type0101
Estrogen receptor beta0011
Protein kinase C eta type0101
Sphingosine kinase 20101
Sphingosine kinase 10101
Protein kinase C theta type0101
aldehyde dehydrogenase 1 family, member A11001
Sphingosine 1-phosphate receptor 20112
Sphingosine 1-phosphate receptor 40112
Sphingosine 1-phosphate receptor 10112
Sphingosine 1-phosphate receptor 30112
Sphingosine 1-phosphate receptor 50112
retinoid X nuclear receptor alpha1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]