MCID: FRB001
MIFTS: 56

Farber Lipogranulomatosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases categories
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Summaries for Farber Lipogranulomatosis

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Sources:
21Genetics Home Reference, 44NINDS, 47OMIM, 33MalaCards
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NINDS:44 Farber?s disease describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.

MalaCards: Farber Lipogranulomatosis, also known as ceramidase deficiency, is related to lipogranulomatosis and obstructive jaundice, and has symptoms including hydrarthrosis/articular/joint effusion, musculo-tendinous retractions and subcutaneous nodules/lipomas/tumefaction/swelling. An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1), and among its related pathways are S-1P Stimulated Signaling and sphingosine and sphingosine-1-phosphate metabolism. The compounds ceranib 1 and Tetrahexosylceramide (d18:1/20:0) have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and liver.

Genetics Home Reference:21 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.

Description from OMIM:47 228000

Aliases & Classifications for Farber Lipogranulomatosis

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 44NINDS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
farber lipogranulomatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

farber lipogranulomatosis 8 9 43 20 22 21 47 10 49 62
ceramidase deficiency 43 21 44 49
farber disease 8 43 21 49
acid ceramidase deficiency 8 43 21
farber's disease 43 21 44
n-laurylsphingosine deacylase deficiency 8 43
ac deficiency 43 21
acylsphingosine deacylase deficiency 21
farber's lipogranulomatosis 21
farber-uzman syndrome 21


External Ids:

Disease Ontology8 DOID:0050464
OMIM47 228000
MeSH35 D055577
MESH via Orphanet36 C537075, D055577
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet59 79935000
UMLS via Orphanet63 C0268255, C2936785

Related Diseases for Farber Lipogranulomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Farber Lipogranulomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1lipogranulomatosis31.2ASAH2, ASAH1
2obstructive jaundice10.3
3arthritis10.3
4metachromatic leukodystrophy10.2
5leukodystrophy10.2
6krabbe disease10.0
7lysosomal storage disease10.0
8hydrops fetalis10.0
9sphingolipidosis10.0ASAH2, PSAP
10gaucher's disease10.0ASAH2, PSAP
11niemann-pick disease10.0ASAH2, PSAP

Graphical network of diseases related to Farber Lipogranulomatosis:



Diseases related to farber lipogranulomatosis

Symptoms for Farber Lipogranulomatosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

228000

Clinical features from OMIM:

228000

Symptoms:

49 (show all 25)
  • hydrarthrosis/articular/joint effusion
  • musculo-tendinous retractions
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal cry/voice/phonation disorder/nasal speech
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • anomalies of eyes and vision
  • macular pigmentary anomaly/cherry-red spot
  • lung fibrosis
  • articular/joint pain/arthralgia
  • laryngomalacia
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nystagmus
  • kyphosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • corneal clouding/opacity/vascularisation
  • storage liver disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • repeat respiratory infections
  • restricted joint mobility/joint stiffness/ankylosis
  • joint/articular deformation

Drugs & Therapeutics for Farber Lipogranulomatosis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Farber Lipogranulomatosis

Search NIH Clinical Center for Farber Lipogranulomatosis

Genetic Tests for Farber Lipogranulomatosis

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20GeneTests, 22GTR
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Genetic tests related to Farber Lipogranulomatosis:

id Genetic test Affiliating Genes
1 Farber Lipogranulomatosis20 ASAH1
2 Farber's Lipogranulomatosis22

Anatomical Context for Farber Lipogranulomatosis

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33MalaCards
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MalaCards organs/tissues related to Farber Lipogranulomatosis:

33
Eye, Lung, Liver, Skin, Bone marrow, Bone

Animal Models for Farber Lipogranulomatosis or affiliated genes

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Publications for Farber Lipogranulomatosis

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52PubMed
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Articles related to Farber Lipogranulomatosis:

idTitleAuthorsYear
1
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. (23385296)
2013
2
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. (24355074)
2013
3
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. (20609603)
2011
4
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. (16951918)
2006
5
Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. (9645089)
1998
6
A case of Farber lipogranulomatosis. (9539328)
1998
7
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. (8892023)
1996
8
Farber lipogranulomatosis: an unusual presentation in a black child. (2854742)
1986

Variations for Farber Lipogranulomatosis

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Farber Lipogranulomatosis:

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1ASAH1p.Thr222LysVAR_008862
2ASAH1p.Tyr36CysVAR_021579
3ASAH1p.Val97GluVAR_021581
4ASAH1p.Glu138ValVAR_021582rs28934273
5ASAH1p.Gly235ArgVAR_021583
6ASAH1p.Arg254GlyVAR_021584
7ASAH1p.Asn320AspVAR_021585
8ASAH1p.Pro362ArgVAR_021586
9ASAH1p.Gln22HisVAR_038166
10ASAH1p.His23AspVAR_038167
11ASAH1p.Leu182ValVAR_038169

Clinvar genetic disease variations for Farber Lipogranulomatosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1ASAH1NM_004315.4(ASAH1): c.965+4A> Gsingle nucleotide variantPathogenicrs397509415GRCh37Chr 8, 17917077: 17917077
2ASAH1NG_008985.1: g.14667_24138deldeletionPathogenicGRCh37Chr 8, 17923370: 17932841
3ASAH1NM_004315.4(ASAH1): c.713C> A (p.Thr238Lys)single nucleotide variantPathogenicrs137853593GRCh37Chr 8, 17919233: 17919233
4ASAH1NM_004315.4(ASAH1): c.461A> T (p.Glu154Val)single nucleotide variantPathogenicrs137853594GRCh37Chr 8, 17922010: 17922010
5ASAH1NM_004315.4(ASAH1): c.155A> G (p.Tyr52Cys)single nucleotide variantPathogenicrs137853595GRCh37Chr 8, 17933068: 17933068
6ASAH1NM_004315.4(ASAH1): c.1006A> G (p.Asn336Asp)single nucleotide variantPathogenicrs137853596GRCh37Chr 8, 17916933: 17916933
7ASAH1NM_004315.4(ASAH1): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs137853597GRCh37Chr 8, 17919892: 17919892

Expression for genes affiliated with Farber Lipogranulomatosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Farber Lipogranulomatosis

Search GEO for disease gene expression data for Farber Lipogranulomatosis.

Pathways for genes affiliated with Farber Lipogranulomatosis

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ASAH1, ASAH2
2
Show member pathways
ceramide degradation38
8.8ASAH1, ACER1, ACER2, ASAH2
3
Show member pathways
7.8ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
4
Show member pathways
7.8ASAH1, ASAH2, ACER3, ACER1, ACER2, PSAP

Compounds for genes affiliated with Farber Lipogranulomatosis

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61Tocris Bioscience, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1ceranib 1619.7ACER1, ASAH2, ASAH1
2Tetrahexosylceramide (d18:1/20:0)249.2ACER1, ACER2, ASAH1, ASAH2
3Tetrahexosylceramide (d18:1/16:0)249.2ACER2, ACER1, ASAH1, ASAH2
4Tetrahexosylceramide (d18:1/18:0)249.2ACER2, ACER1, ASAH1, ASAH2
5Mannosyl-inositol-phosphorylceramide249.2ASAH2, ASAH1, ACER1, ACER2
6Inositol-P-ceramide249.2ACER1, ASAH1, ASAH2, ACER2
7Lactosyceramide (d18:1/18:1(9Z))249.2ACER2, ACER1, ASAH1, ASAH2
8Mannosyl-diinositol-phosphorylceramide249.2ACER2, ACER1, ASAH1, ASAH2
9Tetrahexosylceramide (d18:1/24:0)249.2ASAH1, ACER2, ACER1, ASAH2
10Tetrahexosylceramide (d18:1/25:0)249.2ASAH1, ASAH2, ACER1, ACER2
11Tetrahexosylceramide (d18:1/26:0)249.2ACER1, ASAH1, ASAH2, ACER2
12Tetrahexosylceramide (d18:1/26:1(17Z))249.2ACER2, ACER1, ASAH1, ASAH2
13Tetrahexosylceramide (d18:1/9Z-18:1)249.2ACER2, ACER1, ASAH1, ASAH2
14Tetrahexosylceramide (d18:1/22:0)249.2ACER2, ACER1, ASAH1, ASAH2
15Tetrahexosylceramide (d18:1/24:1(15Z))249.2ACER2, ACER1, ASAH1, ASAH2
16Galabiosylceramide (d18:1/16:0)249.2ACER2, ACER1, ASAH1, ASAH2
17Galabiosylceramide (d18:1/22:0)249.2ASAH1, ASAH2, ACER1, ACER2
18Galabiosylceramide (d18:1/24:0)249.2ACER1, ASAH1, ACER2, ASAH2
19Glucosylceramide (d18:1/24:0)249.2ASAH2, ACER1, ACER2, ASAH1
20Galabiosylceramide (d18:1/18:0)249.2ACER1, ACER2, ASAH1, ASAH2
21Galabiosylceramide (d18:1/20:0)249.2ASAH2, ACER2, ACER1, ASAH1
22Galabiosylceramide (d18:1/26:0)249.1ACER1, ACER2, ASAH1, ASAH2
23Galabiosylceramide (d18:1/25:0)249.1ASAH2, ASAH1, ACER1, ACER2
24Galabiosylceramide (d18:1/9Z-18:1)249.1ASAH2, ASAH1, ACER2, ACER1
25Galabiosylceramide (d18:1/26:1(17Z))249.1ACER2, ACER1, ASAH2, ASAH1
26Galabiosylceramide (d18:1/24:1(15Z))249.1ACER2, ACER1, ASAH1, ASAH2
273-O-Sulfogalactosylceramide (d18:1/18:1(9Z))249.1ASAH1, ASAH2, ACER1, ACER2
283-O-Sulfogalactosylceramide (d18:1/14:0)249.1ASAH2, ASAH1, ACER1, ACER2
293-O-Sulfogalactosylceramide (d18:1/22:0)249.1ASAH2, ASAH1, ACER1, ACER2
303-O-Sulfogalactosylceramide (d18:1/24:1(15Z))249.1ACER1, ACER2, ASAH1, ASAH2
313-O-Sulfogalactosylceramide (d18:1/26:1(17Z))249.1ASAH1, ACER2, ACER1, ASAH2
323-O-Sulfogalactosylceramide (d18:1/16:0)249.1ACER2, ASAH2, ASAH1, ACER1
333-O-Sulfogalactosylceramide (d18:1/18:0)249.1ACER2, ACER1, ASAH1, ASAH2
343-O-Sulfogalactosylceramide (d18:1/12:0)249.0ASAH2, ASAH1, ACER1, ACER2
35Tridecanoic acid249.0ACER2, ASAH2, ASAH1, ACER1
363-O-Sulfogalactosylceramide (d18:1/20:0)249.0ASAH2, ASAH1, ACER1, ACER2
37Galactosylceramide (d18:1/12:0)249.0ASAH1, ASAH2, ACER1, ACER2
38Glucosylceramide (d18:1/26:1(17Z))249.0ACER2, ACER1, ASAH1, ASAH2
39Glucosylceramide (d18:1/24:1(15Z))249.0ASAH1, ACER1, ACER2, ASAH2
40Galactosylceramide (d18:1/14:0)248.9ASAH2, ASAH1, ACER1, ACER2
41Pentadecanoic acid248.9ASAH2, ASAH1, ACER1, ACER2
42Heptadecanoic acid248.8ASAH2, ASAH1, ACER1, ACER2
433-O-Sulfogalactosylceramide (d18:1/24:0)248.8ASAH2, ASAH1, ACER1, ACER2, PSAP
44glucosylceramide45 249.8PSAP, ACER2, ASAH2, ASAH1, ACER1
45sphingosine45 24 1110.8ACER2, ASAH1, PSAP, ACER1, ASAH2
46Glucosylceramide (d18:1/12:0)248.8ACER2, ACER1, ASAH1, ASAH2
47Glucosylceramide (d18:1/18:0)248.8ACER2, ACER1, ASAH2, ASAH1
48dihydroceramide45 249.7ACER1, ACER3, ASAH1, ASAH2, ACER2
49Glucosylceramide (d18:1/25:0)248.7ACER2, ACER1, ASAH1, ASAH2
50Glucosylceramide (d18:1/22:0)248.5ASAH2, ACER2, ACER1, ASAH1

GO Terms for genes affiliated with Farber Lipogranulomatosis

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16Gene Ontology
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Cellular components related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.7PSAP, ASAH1
2integral component of Golgi membraneGO:0301739.1ACER2, ACER3

Biological processes related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of lipid metabolic processGO:0192169.6ACER1, PSAP
2glycosphingolipid metabolic processGO:0066879.0PSAP, ASAH1, ASAH2
3sphingosine biosynthetic processGO:0465129.0ACER2, ACER1, ACER3
4sphingolipid biosynthetic processGO:0301489.0ACER3, ACER1, ACER2
5ceramide metabolic processGO:0066728.8ASAH2, ASAH1, ACER3, ACER2
6sphingolipid metabolic processGO:0066658.0ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
7small molecule metabolic processGO:0442817.7ASAH2, ASAH1, PSAP, ACER3, ACER1, ACER2

Molecular functions related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:0716339.5ACER2, ACER1
2ceramidase activityGO:0170408.5ACER2, ACER1, ASAH1, ASAH2

Products for genes affiliated with Farber Lipogranulomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Farber Lipogranulomatosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet