MCID: FRB001
MIFTS: 46

Farber Lipogranulomatosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Farber Lipogranulomatosis

MalaCards integrated aliases for Farber Lipogranulomatosis:

Name: Farber Lipogranulomatosis 53 12 49 24 55 71 36 13 41 14 69
Acid Ceramidase Deficiency 53 12 49 24 55 71
Ceramidase Deficiency 53 72 49 24 50 71
Farber Disease 53 12 49 24 55 71
N-Laurylsphingosine Deacylase Deficiency 53 12 49 71
Farber's Disease 72 49 24 50
Ac Deficiency 53 49 24 71
Farber's Lipogranulomatosis 24 28
Frbrl 53 71
Acylsphingosine Deacylase Deficiency 24
Farber-Uzman Syndrome 24
Acy 72

Characteristics:

Orphanet epidemiological data:

55
farber disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in infancy or first years of life
early death (in some patients)


HPO:

31
farber lipogranulomatosis:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 228000
Disease Ontology 12 DOID:0050464
MeSH 41 D055577
NCIt 46 C84710
SNOMED-CT 64 79935000
Orphanet 55 ORPHA333
MESH via Orphanet 42 D055577 C537075
UMLS via Orphanet 70 C0268255 C2936785
ICD10 via Orphanet 33 E75.2
MedGen 39 C0268255
KEGG 36 H00138
UMLS 69 C0268255

Summaries for Farber Lipogranulomatosis

NINDS : 50 Farber’s disease, also known as Farber's lipogranulomatosis, 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.  The liver, heart, and kidneys may also be affected.  Disease onset is typically seen in early infancy but may occur later in life.  Symptoms of the classic form  may have moderately impaired mental ability and difficulty with swallowing.  Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting.  Affected persons may require the insertion of a breathing tube.  In severe cases, the liver and spleen are enlarged.  Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin.  Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene.  The disorder affects both males and females.

MalaCards based summary : Farber Lipogranulomatosis, also known as acid ceramidase deficiency, is related to cerebral amyloid angiopathy, cst3-related and lipogranulomatosis, and has symptoms including arthralgia, joint swelling and joint stiffness. An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include liver, skin and spleen.

OMIM : 53 Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). (228000)

UniProtKB/Swiss-Prot : 71 Farber lipogranulomatosis: An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age.

NIH Rare Diseases : 49 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. Farber'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

Genetics Home Reference : 24 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.

Wikipedia : 72 Farber disease (also known as Farber\'s lipogranulomatosis, ceramidase deficiency, \"Fibrocytic... more...

Related Diseases for Farber Lipogranulomatosis

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

(showing 19, show less)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 11.1
2 lipogranulomatosis 10.5
3 arthritis 10.1
4 obstructive jaundice 10.1
5 spinal muscular atrophy 10.0
6 muscular atrophy 10.0
7 renal hypodysplasia/aplasia 1 10.0
8 adenocarcinoma 10.0
9 adenocarcinoma in situ 10.0
10 metachromatic leukodystrophy 9.9
11 leukodystrophy 9.9
12 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.8
13 polyarteritis nodosa, childhood-onset 9.8
14 hydronephrosis 9.8
15 cervicitis 9.8
16 cervical adenocarcinoma 9.8
17 polyarteritis nodosa 9.8
18 glycoproteinosis 9.7 NAGA PSAP
19 fabry disease 9.6 NAGA PSAP

Graphical network of the top 20 diseases related to Farber Lipogranulomatosis:



Diseases related to Farber Lipogranulomatosis

Symptoms & Phenotypes for Farber Lipogranulomatosis

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
painful swollen joints
arthritis

Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
periarticular subcutaneous nodules
lipogranulomatosis
nodule show lipid-laden macrophages

Head And Neck Eyes:
macular cherry-red spots (in some patients)

Voice:
hoarse cry due to laryngeal involvement

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
irritability
mental retardation (in some patients)
motor retardation

Respiratory Larynx:
laryngeal nodules

Laboratory Abnormalities:
elevated urine ceramide levels
histiocytic infiltration of liver, spleen, and lungs
ceramidase deficiency


Clinical features from OMIM:

228000

Human phenotypes related to Farber Lipogranulomatosis:

55 31 (showing 28, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint swelling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001386
3 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
6 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
8 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
9 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
10 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
11 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
12 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
13 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
14 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
15 abnormality of vision 55 31 occasional (7.5%) Occasional (29-5%) HP:0000504
16 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
17 laryngomalacia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001601
18 hoarse cry 55 31 frequent (33%) Frequent (79-30%) HP:0001615
19 pulmonary fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002206
20 decreased muscle mass 55 31 frequent (33%) Frequent (79-30%) HP:0003199
21 periarticular subcutaneous nodules 55 31 hallmark (90%) Very frequent (99-80%) HP:0007470
22 cherry red spot of the macula 55 31 occasional (7.5%) Occasional (29-5%) HP:0010729
23 arthritis 31 HP:0001369
24 abnormality of the eye 55 Occasional (29-5%)
25 subcutaneous nodule 55 Frequent (79-30%)
26 irritability 31 HP:0000737
27 motor delay 31 HP:0001270
28 lipogranulomatosis 31 HP:0040139

UMLS symptoms related to Farber Lipogranulomatosis:


painful swollen joints

Drugs & Therapeutics for Farber Lipogranulomatosis

Interventional clinical trials:

(showing 2, show less)

# Name Status NCT ID Phase Drugs
1 Farber Disease Natural History Study Recruiting NCT03233841
2 Biomarker for Farber Disease Recruiting NCT02298634

Search NIH Clinical Center for Farber Lipogranulomatosis

Cochrane evidence based reviews: farber lipogranulomatosis

Genetic Tests for Farber Lipogranulomatosis

Genetic tests related to Farber Lipogranulomatosis:

# Genetic test Affiliating Genes
1 Farber's Lipogranulomatosis 28 ASAH1

Anatomical Context for Farber Lipogranulomatosis

MalaCards organs/tissues related to Farber Lipogranulomatosis:

38
Liver, Skin, Spleen, Lung, Kidney, Heart, Lymph Node

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(showing 8, show less)
# Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Farber Lipogranulomatosis:

71 (showing 13, show less)
# Symbol AA change Variation ID SNP ID
1 ASAH1 p.Thr222Lys VAR_008862 rs137853593
2 ASAH1 p.Tyr36Cys VAR_021579 rs137853595
3 ASAH1 p.Val97Glu VAR_021581
4 ASAH1 p.Glu138Val VAR_021582 rs137853594
5 ASAH1 p.Gly235Arg VAR_021583
6 ASAH1 p.Arg254Gly VAR_021584
7 ASAH1 p.Asn320Asp VAR_021585 rs137853596
8 ASAH1 p.Pro362Arg VAR_021586
9 ASAH1 p.Gln22His VAR_038166
10 ASAH1 p.His23Asp VAR_038167
11 ASAH1 p.Leu182Val VAR_038169 rs137853597
12 ASAH1 p.Val97Gly VAR_071994
13 ASAH1 p.Gly168Trp VAR_071995

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6 (showing 7, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASAH1 NM_004315.5(ASAH1): c.965+4A> G single nucleotide variant Pathogenic rs397509415 GRCh37 Chromosome 8, 17917077: 17917077
2 ASAH1 NG_008985.1: g.14667_24138del9472 deletion Pathogenic GRCh37 Chromosome 8, 17923370: 17932841
3 ASAH1 NM_004315.5(ASAH1): c.713C> A (p.Thr238Lys) single nucleotide variant Pathogenic rs137853593 GRCh37 Chromosome 8, 17919233: 17919233
4 ASAH1 NM_004315.5(ASAH1): c.461A> T (p.Glu154Val) single nucleotide variant Pathogenic rs137853594 GRCh37 Chromosome 8, 17922010: 17922010
5 ASAH1 NM_004315.5(ASAH1): c.155A> G (p.Tyr52Cys) single nucleotide variant Pathogenic rs137853595 GRCh37 Chromosome 8, 17933068: 17933068
6 ASAH1 NM_004315.5(ASAH1): c.1006A> G (p.Asn336Asp) single nucleotide variant Pathogenic rs137853596 GRCh37 Chromosome 8, 17916933: 17916933
7 ASAH1 NM_004315.5(ASAH1): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs137853597 GRCh37 Chromosome 8, 17919892: 17919892

Expression for Farber Lipogranulomatosis

Search GEO for disease gene expression data for Farber Lipogranulomatosis.

Pathways for Farber Lipogranulomatosis

Pathways related to Farber Lipogranulomatosis according to KEGG:

36
(showing 2, show less)
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:

(showing 3, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 ACER3 ASAH1 CERS1 PSAP
2 11.23 ASAH1 CERS1
3 11.22 ASAH1 NAGA PSAP

GO Terms for Farber Lipogranulomatosis

Cellular components related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 ASAH1 PSAP
2 lysosome GO:0005764 8.8 ASAH1 NAGA PSAP

Biological processes related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 ASAH1 CERS1 PSAP
2 sphingolipid biosynthetic process GO:0030148 9.16 ACER3 CERS1
3 glycosphingolipid metabolic process GO:0006687 8.96 ASAH1 PSAP
4 ceramide metabolic process GO:0006672 8.62 ACER3 ASAH1

Molecular functions related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.92 ACER3 ASAH1 CLCA4 NAGA

Sources for Farber Lipogranulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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