MCID: FRB001
MIFTS: 58

Farber Lipogranulomatosis malady

Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Farber Lipogranulomatosis

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Sources:
21Genetics Home Reference, 43NINDS, 46OMIM, 32MalaCards
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NINDS:43 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 metachromatic leukodystrophy, 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 Lysosome and sphingosine and sphingosine-1-phosphate metabolism. The compounds n-oleoylethanolamine and 4-methylumbelliferyl-beta-d-glucoside have been mentioned in the context of this disorder. Affiliated tissues include lung, eye 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:46 228000

Aliases & Classifications for Farber Lipogranulomatosis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 46 10 48 60
ceramidase deficiency 42 21 43 48
farber disease 8 42 21 48
acid ceramidase deficiency 8 42 21
farber's disease 42 21 43
ac deficiency 42 21
n-laurylsphingosine deacylase deficiency 8
acylsphingosine deacylase deficiency 21
farber's lipogranulomatosis 21
farber-uzman syndrome 21


External Ids:

Disease Ontology8 DOID:0050464
MeSH34 D055577
OMIM46 228000
MESH via Orphanet35 C537075, D055577
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 79935000
UMLS via Orphanet61 C0268255, C2936785

Related Diseases for Farber Lipogranulomatosis

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Farber Lipogranulomatosis:



Diseases related to farber lipogranulomatosis

Clinical Features for Farber Lipogranulomatosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

228000

Clinical synopsis from OMIM:

228000

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Farber Lipogranulomatosis

Drug clinical trials:

Search ClinicalTrials for Farber Lipogranulomatosis

Search NIH Clinical Center for Farber Lipogranulomatosis

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Farber Lipogranulomatosis:

32
Lung, Eye, 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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50PubMed
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Articles related to Farber Lipogranulomatosis:

(show all 11)
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
9
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. (3987715)
1985
10
Subtle clues to diagnosis of skin diseases by electron microscopy. &quot;Farber bodies&quot; in disseminated lipogranulomatosis (Farber's disease). (7246981)
1980
11
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976

Genetic Variations for Farber Lipogranulomatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Farber Lipogranulomatosis:

62 (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

Expression for genes affiliated with Farber Lipogranulomatosis

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1BioGPS, 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:
29KEGG, 37NCBI BioSystems Database, 53Reactome
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Pathways related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ASAH1, GALC, PSAP
29.1ACER1, ACER2, ASAH2, ASAH1
3
Hide members
8.6ACER1, ACER3, ACER2, ASAH2, ASAH1
4
Hide members
8.0ASAH1, ASAH2, ACER2, ACER3, ACER1, GALC

Compounds for genes affiliated with Farber Lipogranulomatosis

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Sources:
44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR
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Compounds related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1n-oleoylethanolamine44 2411.1ASAH1, ASAH2
24-methylumbelliferyl-beta-d-glucoside4410.0PSAP, GALC
3psychosine4410.0GALC, PSAP
4galactosylceramide449.9PSAP, GALC
5glycolipid449.9GALC, PSAP
6ceranib 1599.8ACER1, ASAH2, ASAH1
7ceramide449.5PSAP, ASAH2, ASAH1
8stearic acid44 11 2411.4ACER1, ACER2, ASAH2, ASAH1
9palmitic acid28 11 2411.3ACER1, ACER2, ASAH2, ASAH1
10myristic acid44 11 2411.3ASAH1, ASAH2, ACER2, ACER1
11sphinganine44 2410.2ACER2, ACER3
12arachidonic acid44 28 11 2412.1ASAH1, ASAH2, ACER2, ACER1
13sphingosine44 11 2411.1ASAH1, ASAH2, ACER2, ACER1, PSAP
14glucosylceramide44 249.8PSAP, GALC, ACER1, ACER2, ASAH2, ASAH1
15dihydroceramide44 249.6ASAH1, ASAH2, ACER2, ACER3, ACER1, GALC

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
1integral to Golgi membraneGO:0301739.5ACER2, ACER3
2lysosomal lumenGO:0432029.3ASAH1, GALC, PSAP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of lipid metabolic processGO:0192169.8ACER1, PSAP
2glycosphingolipid metabolic processGO:0066879.3PSAP, GALC, ASAH2, ASAH1
3sphingosine biosynthetic processGO:0465129.2ACER2, ACER3, ACER1
4ceramide metabolic processGO:0066729.1ACER3, ACER2, ASAH2, ASAH1
5sphingolipid biosynthetic processGO:0301488.9ACER2, ACER3, ACER1
6sphingolipid metabolic processGO:0066658.1ASAH1, ASAH2, ACER2, ACER3, ACER1, GALC
7small molecule metabolic processGO:0442817.9PSAP, GALC, ACER1, ACER3, ACER2, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1dihydroceramidase activityGO:0716339.7ACER2, ACER1
2ceramidase activityGO:0170408.8ASAH1, ASAH2, ACER2, ACER1

Products for genes affiliated with Farber Lipogranulomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Farber Lipogranulomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet