FRBRL
MCID: FRB001
MIFTS: 52

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 57 12 53 25 59 74 37 13 44 15 40 72
Farber Disease 57 12 53 25 59 74 29 6
Acid Ceramidase Deficiency 57 12 53 25 59 74
Ceramidase Deficiency 57 75 53 25 54 74
N-Laurylsphingosine Deacylase Deficiency 57 12 53 74
Farber's Disease 75 53 25 54
Ac Deficiency 57 53 25 74
Frbrl 57 74
Acylsphingosine Deacylase Deficiency 25
Farber's Lipogranulomatosis 25
Farber-Uzman Syndrome 25
Acy 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
farber lipogranulomatosis:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0050464
OMIM 57 228000
KEGG 37 H00138
MeSH 44 D055577
NCIt 50 C84710
SNOMED-CT 68 79935000
MESH via Orphanet 45 C537075 D055577
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 73 C0268255 C2936785
Orphanet 59 ORPHA333
MedGen 42 C0268255
UMLS 72 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 cerebral amyloid angiopathy, cst3-related and early invasive cervical adenocarcinoma, 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 : 53 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 : 57 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 : 54 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 : 37
Farber lipogranulomatosis is an autosomal recessive disorder caused by acid ceramidase deficiency.

UniProtKB/Swiss-Prot : 74 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 : 75 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 134)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 11.4
2 early invasive cervical adenocarcinoma 11.3
3 lipogranulomatosis 10.8
4 adenocarcinoma 10.5
5 asah1-related disorders 10.5
6 juvenile rheumatoid arthritis 10.4
7 pituitary tumors 10.4
8 renal hypodysplasia/aplasia 1 10.3
9 autosomal recessive disease 10.3
10 microcytic anemia 10.3
11 obstructive jaundice 10.3
12 arthritis 10.3
13 pathologic nystagmus 10.3
14 lysosomal storage disease 10.3
15 hematopoietic stem cell transplantation 10.3
16 in situ carcinoma 10.2
17 breast cancer 10.1
18 hyperprolactinemia 10.1
19 hydronephrosis 10.1
20 ischemia 10.1
21 adenocarcinoma in situ 10.1
22 adenoma 10.1
23 intermediate coronary syndrome 10.1
24 rare disease in surgical orthopedic 10.1
25 nail-patella syndrome 10.1
26 bronchopneumonia 10.1
27 cholestasis 10.1
28 skin disease 10.1
29 athyreosis 10.1
30 bladder cancer 10.1
31 prostate cancer 10.1
32 ductal carcinoma in situ 10.1
33 squamous cell papilloma 10.1
34 papilloma 10.1
35 b-cell lymphoma 10.1
36 48,xyyy 10.1
37 krabbe disease 10.1
38 metachromatic leukodystrophy 10.1
39 sandhoff disease 10.1
40 leukodystrophy 10.1
41 sphingolipidosis 10.1
42 fetal edema 10.1
43 hydrops fetalis 10.1
44 hypotonia 10.1
45 gaucher disease, type i 9.9
46 sensorineural hearing loss 9.9
47 hydrocephalus 9.9
48 visual epilepsy 9.9
49 gaucher's disease 9.9
50 congenital hydrocephalus 9.9

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
6 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
7 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
8 periarticular subcutaneous nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0007470
9 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
10 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
11 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
12 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
13 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
14 hoarse cry 59 32 frequent (33%) Frequent (79-30%) HP:0001615
15 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
16 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
17 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
18 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
19 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
20 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
21 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
22 cherry red spot of the macula 59 32 occasional (7.5%) Occasional (29-5%) HP:0010729
23 arthritis 32 HP:0001369
24 abnormality of the eye 59 Occasional (29-5%)
25 subcutaneous nodule 59 Frequent (79-30%)
26 irritability 32 HP:0000737
27 motor delay 32 HP:0001270
28 lipogranulomatosis 32 HP:0040139

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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

Skeletal:
arthritis
painful swollen joints

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

UMLS symptoms related to Farber Lipogranulomatosis:


painful swollen joints

MGI Mouse Phenotypes related to Farber Lipogranulomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ACER3 ASAH1 CERS1 PSAP SLC17A5
2 homeostasis/metabolism MP:0005376 9.43 ACER3 ASAH1 CERS1 NAGA PSAP SLC17A5
3 nervous system MP:0003631 9.02 ACER3 ASAH1 CERS1 PSAP SLC17A5

Drugs & Therapeutics for Farber Lipogranulomatosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Recruiting NCT03233841
2 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol 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 Disease 29 ASAH1

Anatomical Context for Farber Lipogranulomatosis

MalaCards organs/tissues related to Farber Lipogranulomatosis:

41
Liver, Skin, Spleen, Lung, Brain, Heart, Lymph Node

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(show top 50) (show all 130)
# 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. 38 8 71
23707712 2013
2
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 38 8 71
11241842 2001
3
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 38 8 71
10610716 1999
4
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 38 8 71
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. 38 8 71
8955159 1996
6
ASAH1-Related Disorders 38 71
29595935 2018
7
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 38 71
16951918 2006
8
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 38 8
8892023 1996
9
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. 38 8
2504515 1989
10
Farber lipogranulomatosis: an unusual presentation in a black child. 38 8
2854742 1986
11
Phenotypic variability in siblings with Farber disease. 38 8
6423791 1984
12
Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. 8
3103372 1986
13
Farber's disease. Light and electron microscopic study of the eye. 8
2983648 1985
14
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 8
3921761 1985
15
Prenatal diagnosis of Farber's disease. 8
91777 1979
16
Familial lipogranulomatosis (Farber's disease). 8
1277575 1976
17
Ceramidase deficiency in Farber's disease (lipogranulomatosis). 8
4678225 1972
18
Chemical studies of Farber's disease. 8
5535909 1970
19
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 8
13859108 1962
20
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 38
31022067 2019
21
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism. 38
31284408 2019
22
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. 38
31186526 2019
23
Allogeneic hematopoietic cell transplantation in Farber disease. 38
30815900 2019
24
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. 38
31240154 2019
25
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. 38
30472209 2019
26
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 38
30399382 2019
27
Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites. 38
30448190 2018
28
Pathological manifestations of Farber disease in a new mouse model. 38
29908121 2018
29
Acid ceramidase deficiency: Farber disease and SMA-PME. 38
30029679 2018
30
Structural basis for the activation of acid ceramidase. 38
29692406 2018
31
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features. 38
29048419 2018
32
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. 38
29167126 2018
33
Allogeneic hematopoietic cell transplantation in Farber disease. 38
29600496 2018
34
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 38
29169047 2018
35
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency. 38
29379059 2018
36
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. 38
28733637 2017
37
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. 38
28275553 2017
38
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. 38
28342444 2017
39
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. 38
27915031 2017
40
[A case report of childhood Farber's disease and literature review]. 38
28072961 2017
41
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. 38
27411168 2016
42
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study. 38
27026573 2016
43
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. 38
27650050 2016
44
Early morphological diagnosis of Farber disease. 38
27471081 2016
45
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. 38
27155573 2016
46
Spinal muscular atrophy associated with progressive myoclonus epilepsy. 38
27647482 2016
47
Factors Predicting Graft-versus-Host Disease-Free, Relapse-Free Survival after Allogeneic Hematopoietic Cell Transplantation: Multivariable Analysis from a Single Center. 38
27095692 2016
48
Post-relapse survival after haploidentical transplantation vs matched-related or matched-unrelated hematopoietic cell transplantation. 38
26999464 2016
49
Nervous system involvement in Farber disease. 38
26373951 2016
50
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 38
26526000 2015

Variations for Farber Lipogranulomatosis

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_004315.6(ASAH1): c.751G> C (p.Gly251Arg) single nucleotide variant Pathogenic rs1554808625 8:17919195-17919195 8:18061686-18061686
2 ASAH1 NM_004315.6(ASAH1): c.965+4A> G single nucleotide variant Pathogenic rs397509415 8:17917077-17917077 8:18059568-18059568
3 ASAH1 NM_004315.6(ASAH1): c.461A> T (p.Glu154Val) single nucleotide variant Pathogenic rs137853594 8:17922010-17922010 8:18064501-18064501
4 ASAH1 NM_004315.6(ASAH1): c.713C> A (p.Thr238Lys) single nucleotide variant Pathogenic rs137853593 8:17919233-17919233 8:18061724-18061724
5 ASAH1 NM_177924.4(ASAH1): c.126-3941_382+1358del deletion Pathogenic 8:17923371-17932840 8:18065862-18075331
6 ASAH1 NM_004315.6(ASAH1): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs137853597 8:17919892-17919892 8:18062383-18062383
7 ASAH1 NM_004315.6(ASAH1): c.1006A> G (p.Asn336Asp) single nucleotide variant Pathogenic rs137853596 8:17916933-17916933 8:18059424-18059424
8 ASAH1 NM_004315.6(ASAH1): c.155A> G (p.Tyr52Cys) single nucleotide variant Likely pathogenic rs137853595 8:17933068-17933068 8:18075559-18075559
9 ASAH1 NM_004315.6(ASAH1): c.696+1G> C single nucleotide variant Likely pathogenic rs1411267767 8:17919787-17919787 8:18062278-18062278
10 ASAH1 NM_004315.6(ASAH1): c.126+580C> T single nucleotide variant Uncertain significance rs201935182 8:17941605-17941605 8:18084096-18084096
11 ASAH1 NM_004315.6(ASAH1): c.126+612A> G single nucleotide variant Uncertain significance rs200503438 8:17941573-17941573 8:18084064-18084064
12 ASAH1 NM_004315.6(ASAH1): c.310G> A (p.Val104Met) single nucleotide variant Uncertain significance rs368365768 8:17927342-17927342 8:18069833-18069833
13 ASAH1 NM_004315.6(ASAH1): c.409G> A (p.Ala137Thr) single nucleotide variant Uncertain significance rs146531900 8:17924750-17924750 8:18067241-18067241
14 ASAH1 NM_004315.6(ASAH1): c.505+7G> A single nucleotide variant Uncertain significance rs189892461 8:17921959-17921959 8:18064450-18064450
15 ASAH1 NM_004315.6(ASAH1): c.*501T> C single nucleotide variant Uncertain significance rs886062778 8:17914542-17914542 8:18057033-18057033
16 ASAH1 NM_004315.6(ASAH1): c.958G> C (p.Val320Leu) single nucleotide variant Uncertain significance rs78267388 8:17917088-17917088 8:18059579-18059579
17 ASAH1 NM_004315.6(ASAH1): c.552-4A> G single nucleotide variant Uncertain significance rs138920776 8:17919936-17919936 8:18062427-18062427
18 ASAH1 NM_004315.6(ASAH1): c.*176_*177del deletion Uncertain significance rs374131883 8:17914866-17914867 8:18057357-18057358
19 ASAH1 NM_004315.6(ASAH1): c.*686T> C single nucleotide variant Uncertain significance rs886062777 8:17914357-17914357 8:18056848-18056848
20 ASAH1 NM_004315.6(ASAH1): c.180A> T (p.Arg60Ser) single nucleotide variant Uncertain significance rs373524235 8:17928893-17928893 8:18071384-18071384
21 ASAH1 NM_177924.4(ASAH1): c.-219A> T single nucleotide variant Uncertain significance rs539981182 8:17941786-17941786 8:18084277-18084277
22 ASAH1 NM_004315.6(ASAH1): c.640G> A (p.Val214Ile) single nucleotide variant Uncertain significance 8:17919844-17919844 8:18062335-18062335
23 ASAH1 NM_004315.6(ASAH1): c.126+616C> G single nucleotide variant Uncertain significance rs371791165 8:17941569-17941569 8:18084060-18084060
24 ASAH1 NM_004315.6(ASAH1): c.*961A> G single nucleotide variant Uncertain significance rs553021299 8:17914082-17914082 8:18056573-18056573
25 ASAH1 NM_004315.6(ASAH1): c.*164T> A single nucleotide variant Uncertain significance rs886062780 8:17914879-17914879 8:18057370-18057370
26 ASAH1 NM_177924.4(ASAH1): c.-101G> A single nucleotide variant Uncertain significance rs139001299 8:17941668-17941668 8:18084159-18084159
27 ASAH1 NM_004315.6(ASAH1): c.*933T> C single nucleotide variant Uncertain significance rs886062776 8:17914110-17914110 8:18056601-18056601
28 ASAH1 NM_004315.6(ASAH1): c.*368C> T single nucleotide variant Uncertain significance rs17126181 8:17914675-17914675 8:18057166-18057166
29 ASAH1 NM_004315.6(ASAH1): c.*356C> G single nucleotide variant Uncertain significance rs141443856 8:17914687-17914687 8:18057178-18057178
30 ASAH1 NM_004315.6(ASAH1): c.*178A> G single nucleotide variant Uncertain significance rs886062779 8:17914865-17914865 8:18057356-18057356
31 ASAH1 NM_004315.6(ASAH1): c.752G> A (p.Gly251Asp) single nucleotide variant Uncertain significance rs886062781 8:17918967-17918967 8:18061458-18061458
32 ASAH1 NM_004315.6(ASAH1): c.677T> C (p.Met226Thr) single nucleotide variant Uncertain significance rs141068211 8:17919807-17919807 8:18062298-18062298
33 ASAH1 NM_004315.6(ASAH1): c.668A> T (p.Tyr223Phe) single nucleotide variant Uncertain significance rs150268016 8:17919816-17919816 8:18062307-18062307
34 ASAH1 NM_004315.6(ASAH1): c.430+9C> G single nucleotide variant Uncertain significance rs371977439 8:17924720-17924720 8:18067211-18067211
35 ASAH1 NM_004315.6(ASAH1): c.231A> G (p.Arg77=) single nucleotide variant Uncertain significance rs559209309 8:17928842-17928842 8:18071333-18071333
36 ASAH1 NM_004315.6(ASAH1): c.126+591C> T single nucleotide variant Uncertain significance rs371756048 8:17941594-17941594 8:18084085-18084085
37 ASAH1 NM_177924.4(ASAH1): c.-104C> G single nucleotide variant Uncertain significance rs546277660 8:17941671-17941671 8:18084162-18084162
38 ASAH1 NM_177924.4(ASAH1): c.-175A> T single nucleotide variant Uncertain significance rs549133239 8:17941742-17941742 8:18084233-18084233
39 ASAH1 NM_177924.4(ASAH1): c.-247C> G single nucleotide variant Uncertain significance rs886062782 8:17941814-17941814 8:18084305-18084305
40 ASAH1 NM_177924.4(ASAH1): c.-227T> G single nucleotide variant Likely benign rs34466559 8:17941794-17941794 8:18084285-18084285
41 ASAH1 NM_177924.4(ASAH1): c.-238C> T single nucleotide variant Likely benign rs35425490 8:17941805-17941805 8:18084296-18084296
42 ASAH1 NM_004315.6(ASAH1): c.*334G> A single nucleotide variant Likely benign rs115127411 8:17914709-17914709 8:18057200-18057200
43 ASAH1 NM_004315.6(ASAH1): c.*932C> T single nucleotide variant Likely benign rs7002731 8:17914111-17914111 8:18056602-18056602
44 ASAH1 NM_004315.6(ASAH1): c.*160T> C single nucleotide variant Likely benign rs574774 8:17914883-17914883 8:18057374-18057374
45 ASAH1 NM_004315.6(ASAH1): c.*695C> T single nucleotide variant Likely benign rs403910 8:17914348-17914348 8:18056839-18056839
46 ASAH1 NM_004315.6(ASAH1): c.*184T> A single nucleotide variant Likely benign rs574114 8:17914859-17914859 8:18057350-18057350
47 ASAH1 NM_004315.6(ASAH1): c.*244C> T single nucleotide variant Likely benign rs405308 8:17914799-17914799 8:18057290-18057290
48 ASAH1 NM_004315.6(ASAH1): c.*200C> T single nucleotide variant Likely benign rs71526182 8:17914843-17914843 8:18057334-18057334
49 ASAH1 NM_004315.6(ASAH1): c.1153G> A (p.Val385Ile) single nucleotide variant Benign/Likely benign rs17636067 8:17915126-17915126 8:18057617-18057617
50 ASAH1 NM_004315.6(ASAH1): c.420T> A (p.Asp140Glu) single nucleotide variant Benign/Likely benign rs2472205 8:17924739-17924739 8:18067230-18067230

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

74 (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
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:

37
# 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
13.3 PSAP NAGA CERS1 ASAH1 ACER3
2
Show member pathways
11.66 PSAP CERS1 ASAH1 ACER3
3 11.23 CERS1 ASAH1
4 11.01 SLC17A5 PSAP NAGA ASAH1

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 lysosomal lumen GO:0043202 8.96 PSAP ASAH1
2 lysosome GO:0005764 8.92 SLC17A5 PSAP NAGA ASAH1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 PSAP CERS1 ASAH1
2 sphingolipid biosynthetic process GO:0030148 9.16 CERS1 ACER3
3 glycosphingolipid metabolic process GO:0006687 8.96 PSAP ASAH1
4 ceramide metabolic process GO:0006672 8.32 ACER3

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....