FRBRL
MCID: FRB001
MIFTS: 57

Farber Lipogranulomatosis (FRBRL)

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

Aliases & Classifications for Farber Lipogranulomatosis

MalaCards integrated aliases for Farber Lipogranulomatosis:

Name: Farber Lipogranulomatosis 56 12 52 25 58 73 36 13 43 15 39 71
Farber Disease 56 12 52 25 58 73 29 6
Acid Ceramidase Deficiency 56 12 52 25 58 73
Ceramidase Deficiency 56 74 52 25 53 73
N-Laurylsphingosine Deacylase Deficiency 56 12 52 73
Farber's Disease 74 52 25 53
Ac Deficiency 56 52 25 73
Frbrl 56 73
Acylsphingosine Deacylase Deficiency 25
Farber's Lipogranulomatosis 25
Farber-Uzman Syndrome 25
Acy 74

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050464
OMIM 56 228000
KEGG 36 H00138
MeSH 43 D055577
NCIt 49 C84710
SNOMED-CT 67 79935000
MESH via Orphanet 44 C537075 D055577
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C0268255 C2936785
Orphanet 58 ORPHA333
MedGen 41 C0268255
UMLS 71 C0268255

Summaries for Farber Lipogranulomatosis

Genetics Home Reference : 25 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. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features. Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.

MalaCards based summary : Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and krabbe disease, and has symptoms including painful swollen joints 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, and related phenotypes are failure to thrive and hepatomegaly

Disease Ontology : 12 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

NINDS : 53 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 typically begins 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. Some people may need 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.

KEGG : 36 Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 31.9 ASAH2 ASAH1
2 krabbe disease 30.1 SMPD1 PSAP GALC
3 acid sphingomyelinase deficiency 30.0 SMPD1 NPC1
4 mucolipidosis ii alpha/beta 30.0 SMPD1 PSAP GM2A
5 gaucher disease, type i 29.9 SMPD1 PSAP GALC
6 metachromatic leukodystrophy 29.9 SMPD1 PSAP GM2A GALC
7 leukodystrophy 29.8 SLC17A5 PSAP GALC ACER3
8 mucolipidosis 29.5 SMPD1 SLC17A5 PSAP NPC1
9 inherited metabolic disorder 29.3 SMPD1 NPC2 NPC1
10 lysosomal storage disease 29.1 SMPD1 PSAP NPC2 NPC1 GM2A GALC
11 sandhoff disease 28.9 SMPD1 PSAP NPC2 NPC1 GM2A ASAH1
12 lipid storage disease 28.7 SMPD1 PSAP NPC2 NPC1 GALC ASAH1
13 sphingolipidosis 28.3 SMPD1 PSAP NPC2 NPC1 GM2A GALC
14 cerebral amyloid angiopathy, cst3-related 11.4
15 early invasive cervical adenocarcinoma 11.3
16 asah1-related disorders 10.5
17 adenocarcinoma 10.5
18 juvenile rheumatoid arthritis 10.4
19 pituitary tumors 10.4
20 gangliosidosis 10.3 PSAP GM2A
21 autosomal recessive disease 10.3
22 renal hypodysplasia/aplasia 1 10.3
23 microcytic anemia 10.3
24 obstructive jaundice 10.3
25 arthritis 10.3
26 pathologic nystagmus 10.3
27 infantile krabbe disease 10.2 PSAP GALC
28 salt and pepper syndrome 10.2 ACER3 ACER2 ACER1
29 in situ carcinoma 10.2
30 aggressive systemic mastocytosis 10.2 SMPD1 ASAH1
31 breast cancer 10.2
32 hyperprolactinemia 10.2
33 hydronephrosis 10.2
34 adenocarcinoma in situ 10.2
35 intermediate coronary syndrome 10.2
36 rare disease in surgical orthopedic 10.2
37 intracranial berry aneurysm 10.1 ASAH2 ASAH1 ACER1
38 nail-patella syndrome 10.1
39 bronchopneumonia 10.1
40 cholestasis 10.1
41 skin disease 10.1
42 athyreosis 10.1
43 glycoproteinosis 10.1 SLC17A5 PSAP
44 malignant pineal area germ cell neoplasm 10.1 NPC2 ASAH1
45 hydrops fetalis, nonimmune 10.1
46 hypotonia 10.1
47 bladder cancer 10.1
48 prostate cancer 10.1
49 ductal carcinoma in situ 10.1
50 squamous cell papilloma 10.1

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



Diseases related to Farber Lipogranulomatosis

Symptoms & Phenotypes for Farber Lipogranulomatosis

Human phenotypes related to Farber Lipogranulomatosis:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
6 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
7 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
8 periarticular subcutaneous nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0007470
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
11 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
12 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
13 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
14 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
15 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
16 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
19 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
20 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
21 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
22 cherry red spot of the macula 58 31 occasional (7.5%) Occasional (29-5%) HP:0010729
23 arthritis 31 HP:0001369
24 abnormality of the eye 58 Occasional (29-5%)
25 subcutaneous nodule 58 Frequent (79-30%)
26 irritability 31 HP:0000737
27 motor delay 31 HP:0001270
28 lipogranulomatosis 31 HP:0040139

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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

Abdomen Spleen:
splenomegaly

Skeletal:
arthritis
painful swollen joints

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

UMLS symptoms related to Farber Lipogranulomatosis:


painful swollen joints

MGI Mouse Phenotypes related to Farber Lipogranulomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ACER1 ACER3 AP3D1 AP3M2 ASAH1 GALC
2 homeostasis/metabolism MP:0005376 10.1 ACER1 ACER2 ACER3 AP3D1 ASAH1 ASAH2
3 hematopoietic system MP:0005397 10.02 ACER1 ACER2 AP3D1 ASAH1 GALC NPC1
4 mortality/aging MP:0010768 9.9 ACER1 ACER3 AP3D1 ASAH1 GALC NPC1
5 liver/biliary system MP:0005370 9.73 ASAH1 GALC NPC1 NPC2 PSAP SMPD1
6 nervous system MP:0003631 9.7 ACER3 AP3D1 AP3M2 ASAH1 GALC GM2A
7 vision/eye MP:0005391 9.17 ACER1 AP3D1 GALC NPC1 PSAP SLC17A5

Drugs & Therapeutics for Farber Lipogranulomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298634
2 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Active, not recruiting NCT03233841

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 Disease 29 ASAH1

Anatomical Context for Farber Lipogranulomatosis

MalaCards organs/tissues related to Farber Lipogranulomatosis:

40
Liver, Skin, Spleen, Lung, Lymph Node, Brain, Heart

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene. 61 56 6
23707712 2013
2
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 61 56 6
11241842 2001
3
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 61 56 6
10610716 1999
4
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 61 56 6
9128814 1997
5
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. 61 56 6
8955159 1996
6
ASAH1-Related Disorders 61 6
29595935 2018
7
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 61 6
16951918 2006
8
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 61 56
8892023 1996
9
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. 61 56
2504515 1989
10
Farber lipogranulomatosis: an unusual presentation in a black child. 61 56
2854742 1986
11
Phenotypic variability in siblings with Farber disease. 61 56
6423791 1984
12
Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. 56
3103372 1986
13
Farber's disease. Light and electron microscopic study of the eye. 56
2983648 1985
14
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 56
3921761 1985
15
Prenatal diagnosis of Farber's disease. 56
91777 1979
16
Familial lipogranulomatosis (Farber's disease). 56
1277575 1976
17
Ceramidase deficiency in Farber's disease (lipogranulomatosis). 56
4678225 1972
18
Chemical studies of Farber's disease. 56
5535909 1970
19
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 56
13859108 1962
20
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease. 61
31835809 2019
21
Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis. 61
31789304 2019
22
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. 61
31882772 2019
23
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. 61
31527255 2019
24
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. 61
31186526 2019
25
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 61
31022067 2019
26
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. 61
31455396 2019
27
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism. 61
31284408 2019
28
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. 61
31240154 2019
29
Allogeneic hematopoietic cell transplantation in Farber disease. 61
30815900 2019
30
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
31
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. 61
30472209 2019
32
Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites. 61
30448190 2018
33
Pathological manifestations of Farber disease in a new mouse model. 61
29908121 2018
34
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
35
Structural basis for the activation of acid ceramidase. 61
29692406 2018
36
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features. 61
29048419 2018
37
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. 61
29167126 2018
38
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency. 61
29379059 2018
39
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
40
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. 61
28733637 2017
41
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. 61
28275553 2017
42
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. 61
28342444 2017
43
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. 61
27915031 2017
44
[A case report of childhood Farber's disease and literature review]. 61
28072961 2017
45
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. 61
27411168 2016
46
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. 61
27026573 2016
47
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. 61
27650050 2016
48
Early morphological diagnosis of Farber disease. 61
27471081 2016
49
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. 61
27155573 2016
50
Spinal muscular atrophy associated with progressive myoclonus epilepsy. 61
27647482 2016

Variations for Farber Lipogranulomatosis

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys)SNV Pathogenic 91 rs137853593 8:17919233-17919233 8:18061724-18061724
2 ASAH1 NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp)SNV Pathogenic 94 rs137853596 8:17916933-17916933 8:18059424-18059424
3 ASAH1 NM_177924.5(ASAH1):c.544C>G (p.Leu182Val)SNV Pathogenic 95 rs137853597 8:17919892-17919892 8:18062383-18062383
4 ASAH1 NM_177924.5(ASAH1):c.917+4A>GSNV Pathogenic 55908 rs397509415 8:17917077-17917077 8:18059568-18059568
5 ASAH1 NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)SNV Pathogenic 545563 rs1554808625 8:17919195-17919195 8:18061686-18061686
6 ASAH1 NM_177924.4(ASAH1):c.126-3941_382+1358deldeletion Pathogenic 545564 8:17923371-17932840 8:18065862-18075331
7 ASAH1 NM_177924.5(ASAH1):c.648+1G>CSNV Likely pathogenic 505533 rs1411267767 8:17919787-17919787 8:18062278-18062278
8 ASAH1 NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)SNV Likely pathogenic 92 rs137853594 8:17922010-17922010 8:18064501-18064501
9 ASAH1 NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)SNV Likely pathogenic 93 rs137853595 8:17933068-17933068 8:18075559-18075559
10 ASAH1 NM_177924.5(ASAH1):c.457+7G>ASNV Conflicting interpretations of pathogenicity 362379 rs189892461 8:17921959-17921959 8:18064450-18064450
11 ASAH1 NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)SNV Conflicting interpretations of pathogenicity 362375 rs886062781 8:17918967-17918967 8:18061458-18061458
12 ASAH1 NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)SNV Conflicting interpretations of pathogenicity 362376 rs141068211 8:17919807-17919807 8:18062298-18062298
13 ASAH1 NM_177924.5(ASAH1):c.910G>C (p.Val304Leu)SNV Conflicting interpretations of pathogenicity 362374 rs78267388 8:17917088-17917088 8:18059579-18059579
14 ASAH1 NM_177924.5(ASAH1):c.504-4A>GSNV Uncertain significance 362378 rs138920776 8:17919936-17919936 8:18062427-18062427
15 ASAH1 NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser)SNV Uncertain significance 362385 rs373524235 8:17928893-17928893 8:18071384-18071384
16 ASAH1 NM_004315.6(ASAH1):c.126+399A>TSNV Uncertain significance 362393 rs539981182 8:17941786-17941786 8:18084277-18084277
17 ASAH1 NM_177924.5(ASAH1):c.592G>A (p.Val198Ile)SNV Uncertain significance 638370 8:17919844-17919844 8:18062335-18062335
18 ASAH1 NM_177924.5(ASAH1):c.*933T>CSNV Uncertain significance 362352 rs886062776 8:17914110-17914110 8:18056601-18056601
19 ASAH1 NM_177924.5(ASAH1):c.*368C>TSNV Uncertain significance 362362 rs17126181 8:17914675-17914675 8:18057166-18057166
20 ASAH1 NM_177924.5(ASAH1):c.*356C>GSNV Uncertain significance 362363 rs141443856 8:17914687-17914687 8:18057178-18057178
21 ASAH1 NM_177924.5(ASAH1):c.*178A>GSNV Uncertain significance 362368 rs886062779 8:17914865-17914865 8:18057356-18057356
22 ASAH1 NM_177924.5(ASAH1):c.*961A>GSNV Uncertain significance 362351 rs553021299 8:17914082-17914082 8:18056573-18056573
23 ASAH1 NM_177924.5(ASAH1):c.*501T>CSNV Uncertain significance 362361 rs886062778 8:17914542-17914542 8:18057033-18057033
24 ASAH1 NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)SNV Uncertain significance 362377 rs150268016 8:17919816-17919816 8:18062307-18062307
25 ASAH1 NM_177924.5(ASAH1):c.382+9C>GSNV Uncertain significance 362380 rs371977439 8:17924720-17924720 8:18067211-18067211
26 ASAH1 NM_177924.5(ASAH1):c.183A>G (p.Arg61=)SNV Uncertain significance 362384 rs559209309 8:17928842-17928842 8:18071333-18071333
27 ASAH1 NM_177924.5(ASAH1):c.-27C>TSNV Uncertain significance 362388 rs371756048 8:17941594-17941594 8:18084085-18084085
28 ASAH1 NM_004315.6(ASAH1):c.126+514C>GSNV Uncertain significance 362391 rs546277660 8:17941671-17941671 8:18084162-18084162
29 ASAH1 NM_004315.6(ASAH1):c.126+443A>TSNV Uncertain significance 362392 rs549133239 8:17941742-17941742 8:18084233-18084233
30 ASAH1 NM_004315.6(ASAH1):c.126+371C>GSNV Uncertain significance 362396 rs886062782 8:17941814-17941814 8:18084305-18084305
31 ASAH1 NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr)SNV Uncertain significance 362382 rs146531900 8:17924750-17924750 8:18067241-18067241
32 ASAH1 NM_177924.5(ASAH1):c.262G>A (p.Val88Met)SNV Uncertain significance 362383 rs368365768 8:17927342-17927342 8:18069833-18069833
33 ASAH1 NM_177924.5(ASAH1):c.-6A>GSNV Uncertain significance 362387 rs200503438 8:17941573-17941573 8:18084064-18084064
34 ASAH1 NM_177924.5(ASAH1):c.-38C>TSNV Uncertain significance 362389 rs201935182 8:17941605-17941605 8:18084096-18084096
35 ASAH1 NM_177924.5(ASAH1):c.*164T>ASNV Uncertain significance 362370 rs886062780 8:17914879-17914879 8:18057370-18057370
36 ASAH1 NM_177924.5(ASAH1):c.-2C>GSNV Uncertain significance 362386 rs371791165 8:17941569-17941569 8:18084060-18084060
37 ASAH1 NM_004315.6(ASAH1):c.126+517G>ASNV Uncertain significance 362390 rs139001299 8:17941668-17941668 8:18084159-18084159
38 ASAH1 NM_177924.5(ASAH1):c.*176_*177deldeletion Uncertain significance 362369 rs374131883 8:17914866-17914867 8:18057357-18057358
39 ASAH1 NM_177924.5(ASAH1):c.*686T>CSNV Uncertain significance 362360 rs886062777 8:17914357-17914357 8:18056848-18056848
40 ASAH1 NM_177924.5(ASAH1):c.*244C>TSNV Likely benign 362365 rs405308 8:17914799-17914799 8:18057290-18057290
41 ASAH1 NM_177924.5(ASAH1):c.*184T>ASNV Likely benign 362367 rs574114 8:17914859-17914859 8:18057350-18057350
42 ASAH1 NM_177924.5(ASAH1):c.*695C>TSNV Likely benign 362358 rs403910 8:17914348-17914348 8:18056839-18056839
43 ASAH1 NM_177924.5(ASAH1):c.*160T>CSNV Likely benign 362371 rs574774 8:17914883-17914883 8:18057374-18057374
44 ASAH1 NM_004315.6(ASAH1):c.126+391T>GSNV Likely benign 362394 rs34466559 8:17941794-17941794 8:18084285-18084285
45 ASAH1 NM_004315.6(ASAH1):c.126+380C>TSNV Likely benign 362395 rs35425490 8:17941805-17941805 8:18084296-18084296
46 ASAH1 NM_177924.5(ASAH1):c.*200C>TSNV Likely benign 362366 rs71526182 8:17914843-17914843 8:18057334-18057334
47 ASAH1 NM_177924.5(ASAH1):c.*932C>TSNV Likely benign 362353 rs7002731 8:17914111-17914111 8:18056602-18056602
48 ASAH1 NM_177924.5(ASAH1):c.*334G>ASNV Likely benign 362364 rs115127411 8:17914709-17914709 8:18057200-18057200
49 ASAH1 NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)SNV Benign/Likely benign 362373 rs17636067 8:17915126-17915126 8:18057617-18057617
50 ASAH1 NM_177924.5(ASAH1):c.79-3C>TSNV Benign/Likely benign 259275 rs35513736 8:17933099-17933099 8:18075590-18075590

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

73 (show all 12)
# 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 rs155480862
6 ASAH1 p.Asn320Asp VAR_021585 rs137853596
7 ASAH1 p.Pro362Arg VAR_021586
8 ASAH1 p.Gln22His VAR_038166
9 ASAH1 p.His23Asp VAR_038167
10 ASAH1 p.Leu182Val VAR_038169 rs137853597
11 ASAH1 p.Val97Gly VAR_071994
12 ASAH1 p.Gly168Trp VAR_071995

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
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 SMPD4 SMPD1 PSAP NPC2 NPC1 GM2A
2
Show member pathways
12.06 SMPD4 SMPD1 PSAP GM2A GALC ASAH2
3 11.73 SMPD1 ASAH2 ASAH1 ACER2 ACER1
4 11.65 SMPD1 ASAH2 ASAH1 ACER1
5 11.45 SMPD1 SLC17A5 PSAP NPC2 NPC1 GM2A
6
Show member pathways
10.55 NPC2 NPC1
7 10.41 ASAH2 ASAH1 ACER2 ACER1

GO Terms for Farber Lipogranulomatosis

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.76 SMPD4 NPC1 ASAH2 AP3M2 AP3D1 AP1S1
2 Golgi membrane GO:0000139 9.72 SMPD4 ASAH2 AP3D1 AP1S1 ACER2
3 lysosomal membrane GO:0005765 9.65 SLC17A5 PSAP NPC1 AP3D1 AP1S1
4 lysosome GO:0005764 9.56 SMPD1 SLC17A5 PSAP NPC2 NPC1 GM2A
5 membrane coat GO:0030117 9.37 AP3D1 AP1S1
6 lysosomal lumen GO:0043202 9.1 SMPD1 PSAP NPC2 GM2A GALC ASAH1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.02 PSAP NPC2 NPC1 GM2A GALC ASAH2
2 neutrophil degranulation GO:0043312 9.91 PSAP NPC2 GM2A ASAH1
3 ceramide metabolic process GO:0006672 9.77 SMPD1 ASAH2 ACER3 ACER2 ACER1
4 lipid transport GO:0006869 9.76 PSAP NPC2 NPC1 GM2A
5 glycosphingolipid metabolic process GO:0006687 9.73 SMPD4 SMPD1 PSAP GM2A GALC ASAH1
6 cholesterol metabolic process GO:0008203 9.72 SMPD1 NPC2 NPC1
7 ceramide biosynthetic process GO:0046513 9.71 SMPD4 SMPD1 ASAH2 ASAH1
8 myelination GO:0042552 9.69 PSAP GALC ACER3
9 sphingolipid biosynthetic process GO:0030148 9.67 ACER3 ACER2 ACER1
10 anterograde axonal transport GO:0008089 9.6 AP3M2 AP3D1
11 low-density lipoprotein particle clearance GO:0034383 9.59 NPC2 NPC1
12 cholesterol transport GO:0030301 9.58 NPC2 NPC1
13 cholesterol efflux GO:0033344 9.58 NPC2 NPC1
14 lysosomal transport GO:0007041 9.57 PSAP NPC1
15 anterograde synaptic vesicle transport GO:0048490 9.56 AP3M2 AP3D1
16 sphingosine biosynthetic process GO:0046512 9.55 ASAH2 ASAH1 ACER3 ACER2 ACER1
17 intracellular cholesterol transport GO:0032367 9.54 NPC2 NPC1
18 sphingomyelin catabolic process GO:0006685 9.52 SMPD4 SMPD1
19 positive regulation of hydrolase activity GO:0051345 9.48 PSAP GM2A
20 galactosylceramide catabolic process GO:0006683 9.43 PSAP GALC
21 ceramide catabolic process GO:0046514 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
22 sphingolipid metabolic process GO:0006665 9.23 PSAP GM2A GALC ASAH2 ASAH1 ACER3

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 SMPD4 SMPD1 GM2A GALC ASAH2 ASAH1
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.56 ASAH1 ACER3 ACER2 ACER1
3 dihydroceramidase activity GO:0071633 9.46 ASAH2 ACER3 ACER2 ACER1
4 lipid transporter activity GO:0005319 9.43 NPC1 GM2A
5 sphingomyelin phosphodiesterase activity GO:0004767 9.4 SMPD4 SMPD1
6 phytoceramidase activity GO:0070774 9.37 ASAH2 ACER3
7 N-acylsphingosine amidohydrolase activity GO:0017040 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
8 ceramidase activity GO:0102121 9.02 ASAH2 ASAH1 ACER3 ACER2 ACER1

Sources for Farber Lipogranulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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