MCID: FRB001
MIFTS: 58

Farber Lipogranulomatosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Farber Lipogranulomatosis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). people with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. farner's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. researchers have described seven types of farber's disease based on their characteristic features. this condition is caused by mutations in the asah1 gene and is inherited in an autosomal recessive manner.       last updated: 10/8/2014

MalaCards based summary: Farber Lipogranulomatosis, also known as acid ceramidase deficiency, is related to lipogranulomatosis and arthritis, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), laryngomalacia and articular/joint pain/arthralgia. 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 liver, skin and spleen.

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.

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.

Description from OMIM:46 228000

Aliases & Classifications for Farber Lipogranulomatosis

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Farber Lipogranulomatosis, Aliases & Descriptions:

Name: Farber Lipogranulomatosis 8 9 42 20 22 21 46 10 48 62
Acid Ceramidase Deficiency 8 42 21 62
Ceramidase Deficiency 42 21 43 48
Farber Disease 8 42 21 48
N-Laurylsphingosine Deacylase Deficiency 8 42 62
 
Farber's Disease 42 21 43
Acylsphingosine Deacylase Deficiency 21 62
Ac Deficiency 42 21
Farber's Lipogranulomatosis 21
Farber-Uzman Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
farber lipogranulomatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

Disease Ontology8 DOID:0050464
OMIM46 228000
MeSH34 D055577
MESH via Orphanet35 C537075, D055577
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0268255, C2936785

Related Diseases for Farber Lipogranulomatosis

About this section

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1lipogranulomatosis31.4ASAH2, ASAH1
2arthritis10.3
3obstructive jaundice10.3
4metachromatic leukodystrophy10.2
5leukodystrophy10.2
6niemann-pick disease10.1ASAH2, PSAP
7sphingolipidosis10.1ASAH2, PSAP
8gaucher's disease10.1ASAH2, PSAP
9krabbe disease10.0
10lysosomal storage disease10.0
11hydrops fetalis10.0
12niemann-pick disease type c110.0ASAH2, PSAP

Graphical network of diseases related to Farber Lipogranulomatosis:



Diseases related to farber lipogranulomatosis

Symptoms for Farber Lipogranulomatosis

About this section

Symptoms by clinical synopsis from OMIM:

228000

Clinical features from OMIM:

228000

Symptoms:

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

HPO human phenotypes related to Farber Lipogranulomatosis:

(show all 35)
id Description Frequency HPO Source Accession
1 limitation of joint mobility hallmark (90%) HP:0001376
2 joint swelling hallmark (90%) HP:0001386
3 laryngomalacia hallmark (90%) HP:0001601
4 hepatomegaly hallmark (90%) HP:0002240
5 arthralgia hallmark (90%) HP:0002829
6 short stature hallmark (90%) HP:0004322
7 nystagmus typical (50%) HP:0000639
8 abnormality of the skin typical (50%) HP:0000951
9 abnormality of the voice typical (50%) HP:0001608
10 respiratory insufficiency typical (50%) HP:0002093
11 recurrent respiratory infections typical (50%) HP:0002205
12 kyphosis typical (50%) HP:0002808
13 amyotrophy typical (50%) HP:0003202
14 reduced bone mineral density typical (50%) HP:0004349
15 abnormality of the macula occasional (7.5%) HP:0001103
16 splenomegaly occasional (7.5%) HP:0001744
17 pulmonary fibrosis occasional (7.5%) HP:0002206
18 opacification of the corneal stroma occasional (7.5%) HP:0007759
19 cognitive impairment occasional (7.5%) HP:0100543
20 autosomal recessive inheritance HP:0000007
21 nephropathy HP:0000112
22 irritability HP:0000737
23 intellectual disability HP:0001249
24 motor delay HP:0001270
25 arthritis HP:0001369
26 joint swelling HP:0001386
27 failure to thrive HP:0001508
28 hoarse cry HP:0001615
29 splenomegaly HP:0001744
30 respiratory insufficiency HP:0002093
31 hepatomegaly HP:0002240
32 progressive disorder HP:0003676
33 variable expressivity HP:0003828
34 periarticular subcutaneous nodules HP:0007470
35 cherry red spot of the macula HP:0010729

Drugs & Therapeutics for Farber Lipogranulomatosis

About this section

Drug clinical trials:

Search ClinicalTrials for Farber Lipogranulomatosis

Search NIH Clinical Center for Farber Lipogranulomatosis

Genetic Tests for Farber Lipogranulomatosis

About this section

Genetic tests related to Farber Lipogranulomatosis:

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

Anatomical Context for Farber Lipogranulomatosis

About this section

MalaCards organs/tissues related to Farber Lipogranulomatosis:

32
Liver, Skin, Spleen, Eye, Lung, Bone marrow, Bone

Animal Models for Farber Lipogranulomatosis or affiliated genes

About this section

Publications for Farber Lipogranulomatosis

About this section

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

About this section

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:

6
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

About this section
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

About this section

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 degradation37
8.8ASAH2, ASAH1, ACER1, ACER2
3
Show member pathways
7.8ACER2, ACER1, ACER3, PSAP, ASAH1, ASAH2
4
Show member pathways
7.8ASAH2, ASAH1, PSAP, ACER3, ACER1, ACER2

Compounds for genes affiliated with Farber Lipogranulomatosis

About this section
Sources:
61Tocris Bioscience, 24HMDB, 44Novoseek, 11DrugBank
See all sources

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
19Galabiosylceramide (d18:1/18:0)249.2ACER1, ACER2, ASAH1, ASAH2
20Glucosylceramide (d18:1/24:0)249.2ASAH2, ASAH1, ACER1, ACER2
21Galabiosylceramide (d18:1/20:0)249.2ASAH2, ACER2, ACER1, ASAH1
22Galabiosylceramide (d18:1/9Z-18:1)249.1ASAH2, ASAH1, ACER2, ACER1
23Galabiosylceramide (d18:1/25:0)249.1ASAH2, ASAH1, ACER1, ACER2
24Galabiosylceramide (d18:1/26:0)249.1ACER2, ACER1, ASAH1, ASAH2
25Galabiosylceramide (d18:1/26:1(17Z))249.1ACER2, ACER1, ASAH1, ASAH2
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 (d18:1/18:0)249.1ASAH1, ASAH2, ACER1, ACER2
333-O-Sulfogalactosylceramide (d18:1/16:0)249.1ASAH2, ASAH1, ACER1, ACER2
343-O-Sulfogalactosylceramide (d18:1/12:0)249.0ASAH2, ASAH1, ACER1, ACER2
35Tridecanoic acid249.0ACER2, ASAH1, ASAH2, ACER1
363-O-Sulfogalactosylceramide (d18:1/20:0)249.0ASAH2, ASAH1, ACER1, ACER2
37Galactosylceramide (d18:1/12:0)249.0ASAH1, ACER2, ASAH2, ACER1
38Glucosylceramide (d18:1/24:1(15Z))249.0ASAH2, ASAH1, ACER1, ACER2
39Galactosylceramide (d18:1/14:0)249.0ASAH2, ASAH1, ACER1, ACER2
40Glucosylceramide (d18:1/26:1(17Z))248.9ACER2, ACER1, ASAH2, ASAH1
41Heptadecanoic acid248.9ASAH1, ACER1, ACER2, ASAH2
42Pentadecanoic acid248.8ACER1, ACER2, ASAH1, ASAH2
433-O-Sulfogalactosylceramide (d18:1/24:0)248.8ASAH2, ASAH1, ACER1, ACER2, PSAP
44glucosylceramide44 249.8PSAP, ACER2, ASAH2, ASAH1, ACER1
45sphingosine44 24 1110.8ACER2, ASAH1, PSAP, ACER1, ASAH2
46Glucosylceramide (d18:1/25:0)248.8ASAH2, ASAH1, ACER1, ACER2
47Glucosylceramide (d18:1/26:0)248.8ASAH2, ASAH1, ACER1, ACER2
48dihydroceramide44 249.7ACER1, ACER3, ASAH1, ASAH2, ACER2
49Glucosylceramide (d18:1/18:0)248.7ACER2, ACER1, ASAH1, ASAH2
50Glucosylceramide (d18:1/22:0)248.5ACER2, ASAH2, ASAH1, ACER1

GO Terms for genes affiliated with Farber Lipogranulomatosis

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Farber Lipogranulomatosis

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet