MCID: FRB001
MIFTS: 48

Farber Lipogranulomatosis malady

Neuronal, Eye, Skin, Metabolic categories

Summaries for Farber Lipogranulomatosis

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 metachromatic leukodystrophy, and has symptoms including joint/articular deformation, autosomal recessive inheritance and intellectual deficit/mental/psychomotor retardation/learning disability. 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 skin and bone marrow.

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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 44NINDS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
ceramidase deficiency 43 21 44 49
farber disease 8 43 21 49
acid ceramidase deficiency 8 43 21
farber's disease 43 21 44
ac deficiency 43 21
n-laurylsphingosine deacylase deficiency 8
acylsphingosine deacylase deficiency 21
farber's lipogranulomatosis 21
farber-uzman syndrome 21


External Ids:

Disease Ontology8 DOID:0050464
MeSH35 D055577
OMIM47 228000
MESH via Orphanet36 C537075, D055577
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 79935000
UMLS via Orphanet62 C0268255, C2936785

Related Diseases for Farber Lipogranulomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1lipogranulomatosis31.0ASAH1, ASAH2
2metachromatic leukodystrophy30.3GALC, PSAP
3krabbe disease30.1PSAP, GALC
4obstructive jaundice10.3
5arthritis10.3
6lip disease10.3
7sandhoff disease10.2
8t cell deficiency10.1
9hydrops fetalis10.1
10gaucher's disease10.0PSAP
11niemann–pick disease10.0ASAH2, PSAP
12niemann-pick disease10.0ASAH2, PSAP
13lysosomal storage disease10.0GALC, PSAP
14sphingolipidosis10.0ASAH2, GALC, PSAP
15gangliosidosis10.0GALC, PSAP

Graphical network of diseases related to Farber Lipogranulomatosis:



Diseases related to farber lipogranulomatosis

Clinical Features for Farber Lipogranulomatosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

228000

Clinical synopsis from OMIM:

228000

Symptoms:

49 (show all 25)
  • joint/articular deformation
  • 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
  • short stature/dwarfism/nanism
  • laryngomalacia
  • articular/joint pain/arthralgia
  • 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

Drugs & Therapeutics for Farber Lipogranulomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Farber Lipogranulomatosis:

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

Anatomical Context for Farber Lipogranulomatosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Farber Lipogranulomatosis:

33
Skin, Bone marrow

Animal Models for Farber Lipogranulomatosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Farber Lipogranulomatosis

Sources:
51PubMed
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Articles related to Farber Lipogranulomatosis:

(show all 27)
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's lipogranulomatosis]. (8577050)
1995
9
The anesthetic implications of a patient with Farber's lipogranulomatosis. (8291711)
1994
10
An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement. (1557987)
1992
11
Farber's lipogranulomatosis in siblings: light and electron microscopic studies. (2514784)
1989
12
Farber's lipogranulomatosis. (3327826)
1987
13
Farber lipogranulomatosis: an unusual presentation in a black child. (2854742)
1986
14
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. (3987715)
1985
15
&quot;Banana bodies&quot; in disseminated lipogranulomatosis (Farber's disease). (6414327)
1983
16
Subtle clues to diagnosis of skin diseases by electron microscopy. &quot;Farber bodies&quot; in disseminated lipogranulomatosis (Farber's disease). (7246981)
1980
17
Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives. (7441940)
1980
18
Farber's disease (disseminated lipogranulomatosis)--a pathological, histochemical and ultrastructural study--. (219658)
1979
19
Familial lipogranulomatosis (Farber's disease). (1277575)
1976
20
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (932904)
1976
21
Ceramidase deficiency in Farber's disease (lipogranulomatosis). (4678225)
1972
22
Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. (5109101)
1971
23
Farber's disease (lipogranulomatosis). (5171854)
1971
24
Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside. (5395479)
1969
25
Biochemical and histochemical studies of a case of Farber's lipogranulomatosis. (5656562)
1968
26
Retinopathy in a case of Farber's lipogranulomatosis. (5936802)
1966
27
Disseminated lipogranulomatosis (Farber's disease). (13582627)
1958

Genetic Variations for Farber Lipogranulomatosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Farber Lipogranulomatosis:

63 (show all 11)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome
See all sources

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

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Farber Lipogranulomatosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1n-oleoylethanolamine45 2411.1ASAH1, ASAH2
24-methylumbelliferyl-beta-d-glucoside4510.0PSAP, GALC
3psychosine4510.0GALC, PSAP
4galactosylceramide459.9PSAP, GALC
5glycolipid459.9GALC, PSAP
6ceranib 1609.8ACER1, ASAH2, ASAH1
7ceramide459.5PSAP, ASAH2, ASAH1
8stearic acid45 11 2411.4ACER1, ACER2, ASAH2, ASAH1
9palmitic acid29 11 2411.3ACER1, ACER2, ASAH2, ASAH1
10myristic acid45 11 2411.3ASAH1, ASAH2, ACER2, ACER1
11sphinganine45 2410.2ACER2, ACER3
12arachidonic acid45 29 11 2412.1ASAH1, ASAH2, ACER2, ACER1
13sphingosine45 11 2411.1ASAH1, ASAH2, ACER2, ACER1, PSAP
14glucosylceramide45 249.8PSAP, GALC, ACER1, ACER2, ASAH2, ASAH1
15dihydroceramide45 249.6ASAH1, ASAH2, ACER2, ACER3, ACER1, GALC

GO Terms for genes affiliated with Farber Lipogranulomatosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Farber Lipogranulomatosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet