FRBRL
MCID: FRB001
MIFTS: 59

Farber Lipogranulomatosis (FRBRL)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Farber Lipogranulomatosis

MalaCards integrated aliases for Farber Lipogranulomatosis:

Name: Farber Lipogranulomatosis 57 11 19 42 58 73 28 12 5 43 14 38 71
Farber Disease 57 11 19 42 58 73 75
Acid Ceramidase Deficiency 57 11 19 42 58 73
Ceramidase Deficiency 57 19 42 75 73
N-Laurylsphingosine Deacylase Deficiency 57 11 19 73
Farber's Disease 19 42 52 75
Ac Deficiency 57 19 42 73
Frbrl 57 73
Acylsphingosine Deacylase Deficiency 42
Farber's Lipogranulomatosis 42
Farber-Uzman Syndrome 42
Acy 75

Characteristics:


Inheritance:

Farber Lipogranulomatosis: Autosomal recessive 57
Farber Disease: Autosomal recessive 58

Prevelance:

Farber Disease: <1/1000000 (Worldwide, Europe) 58

Age Of Onset:

Farber Disease: Antenatal,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
progressive disorder
early death (in some patients)
onset in infancy or first years of life


HPO:

30
farber lipogranulomatosis:
Onset and clinical course progressive


Classifications:

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


Summaries for Farber Lipogranulomatosis

MedlinePlus Genetics: 42 Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (a process known as lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Researchers had previously categorized Farber lipogranulomatosis into subtypes based on characteristic features, but the condition is now thought to be a spectrum of overlapping signs of symptoms.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. Signs and symptoms typically first develop in infancy.In addition to the classic signs, Farber lipogranulomatosis often affects multiple body systems. Affected individuals can have developmental delay, behavioral problems, or seizures. In severe cases, people experience progressive decline in brain and spinal cord (central nervous system) function, a buildup of fluid in the brain (hydrocephalus), loss (atrophy) of brain tissue, paralysis of the arms and legs (quadriplegia), loss of speech, or involuntary muscle jerks (myoclonus).  People with Farber lipogranulomatosis often have enlarged liver, spleen, and immune system tissues due to massive lipid deposits. Lipid deposits may also occur in the eyes and lungs, leading to vision problems and breathing difficulty. Affected individuals may develop thinning of the bones (osteoporosis) that worsens over time.Because of the severity of the signs and symptoms of the condition, individuals with Farber lipogranulomatosis generally do not survive past childhood.

MalaCards based summary: Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy, 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 Metabolism and Sphingolipid metabolism. Affiliated tissues include skin, spleen and liver, and related phenotypes are arthritis and flexion contracture

NINDS: 52 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.

GARD: 19 Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system. Symptoms of Farber disease include 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. The symptoms tend to get worse over time and lead to a shortened lifespan. There are multiple types of Farber disease classified by the severity and nervous system involvement. Farber disease occurs when the ASAH1 gene is not working correctly and is inherited in an autosomal recessive pattern. It is diagnosed based on clinical exam, the symptoms, and enzyme and genetic testing.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

Disease Ontology: 11 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.

Wikipedia: 75 Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency,... 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 163)
# Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 31.4 ASAH2 ASAH1
2 spinal muscular atrophy with progressive myoclonic epilepsy 31.2 SMPD1 GALC ASAH2 ASAH1 ACER3 ACER2
3 combined saposin deficiency 30.0 PSAP GALC
4 mucolipidosis ii alpha/beta 29.9 SMPD1 PSAP GM2A
5 niemann-pick disease, type b 29.6 SMPD1 PSAP NPC2 NPC1
6 scheie syndrome 29.6 NPC2 NPC1 GLA GALC
7 mucolipidosis 29.4 SMPD1 PSAP NPC2 NPC1 GM2A
8 lipid storage disease 29.2 SMPD1 NPC2 NPC1 GLA GALC
9 lysosomal storage disease 29.0 SMPD1 PSAP NPC2 NPC1 NAGA GM2A
10 metachromatic leukodystrophy 28.9 SMPD1 PSAP NPC2 NPC1 GM2A GLA
11 krabbe disease 28.7 UGCG SMPD1 PSAP NPC2 NPC1 GLA
12 gaucher disease, type i 28.5 UGCG SMPD1 PSAP NPC2 NPC1 GLA
13 sandhoff disease 28.5 UGCG SMPD1 PSAP NPC2 NPC1 GM2A
14 gaucher's disease 28.3 UGCG SMPD1 PSAP NPC2 NPC1 GLA
15 niemann-pick disease, type a 28.0 SMPD2 SMPD1 PSAP NPC2 NPC1 GM2A
16 sphingolipidosis 27.8 UGCG SMPD1 PSAP NPC2 NPC1 NAGA
17 niemann-pick disease 27.5 UGCG SMPD2 SMPD1 PSAP NPC2 NPC1
18 asah1-related disorders 10.4
19 juvenile rheumatoid arthritis 10.3
20 dermatitis, atopic, 2 10.2 ASAH2 ACER1
21 charcot-marie-tooth disease, axonal, type 2v 10.2 GM2A ASAH1
22 infantile krabbe disease 10.2 PSAP GALC
23 myeloma, multiple 10.1
24 malignant pineal area germ cell neoplasm 10.1 NPC2 ASAH1
25 gaucher disease, type iii 10.1 PSAP ASAH1
26 niemann-pick disease type c, juvenile neurologic onset 10.1 NPC2 NPC1
27 niemann-pick disease type c, adult neurologic onset 10.1 NPC2 NPC1
28 niemann-pick disease type c, severe early infantile neurologic onset 10.1 NPC2 NPC1
29 deficiency anemia 10.1
30 microcytic anemia 10.1
31 cholestasis 10.1
32 obstructive jaundice 10.1
33 pathologic nystagmus 10.1
34 niemann-pick disease type c, late infantile neurologic onset 10.1 NPC2 NPC1
35 niemann-pick disease type c, severe perinatal form 10.1 NPC2 NPC1
36 myoclonic epilepsy of unverricht and lundborg 10.1
37 respiratory failure 10.1
38 spinal muscular atrophy 10.1
39 early myoclonic encephalopathy 10.1
40 unverricht-lundborg syndrome 10.1
41 muscular atrophy 10.1
42 arthritis 10.1
43 progressive myoclonus epilepsy 10.1
44 gaucher disease, type iiic 10.1 PSAP ASAH1
45 fetal anticonvulsant syndrome 10.1
46 amyotrophic lateral sclerosis 1 10.0
47 hydrops fetalis, nonimmune 10.0
48 leukodystrophy 10.0
49 motor neuron disease 10.0
50 hypotonia 10.0

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 30 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001369
2 flexion contracture 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001371
3 joint swelling 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001386
4 periarticular subcutaneous nodules 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007470
5 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
6 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
7 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
8 cherry red spot of the macula 58 30 Frequent (33%) Frequent (79-30%)
HP:0010729
9 arthralgia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002829
10 hoarse cry 58 30 Frequent (33%) Frequent (79-30%)
HP:0001615
11 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
12 emg: chronic denervation signs 58 30 Frequent (33%) Frequent (79-30%)
HP:0003444
13 cns foam cells 30 Frequent (33%) HP:0003640
14 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
15 dysphonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001618
16 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002093
17 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
18 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
19 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
20 recurrent upper respiratory tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002788
21 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
22 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
23 atelectasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100750
24 abnormality of the elbow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009811
25 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
26 weak cry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001612
27 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002098
28 macular degeneration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000608
29 abnormality of the wrist 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003019
30 hepatosplenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001433
31 diffuse reticular or finely nodular infiltrations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002207
32 recurrent fever 58 30 Very rare (1%) Occasional (29-5%)
HP:0001954
33 brain atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012444
34 abnormality of the knee 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002815
35 mutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002300
36 laryngeal stridor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006511
37 abnormal epiglottis morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005483
38 abnormal conjunctiva morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000502
39 visual fixation instability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025405
40 nodular pattern on pulmonary hrct 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025392
41 abnormal sternum morphology 30 Occasional (7.5%) HP:0000766
42 nystagmus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000639
43 abnormal facial shape 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001999
44 anemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001903
45 opacification of the corneal stroma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007759
46 ascites 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001541
47 hydrops fetalis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001789
48 elevated hepatic transaminase 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002910
49 hepatic fibrosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001395
50 short toe 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001831

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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

Skeletal Limbs:
joint contractures

Respiratory Larynx:
laryngeal nodules

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

Abdomen Spleen:
splenomegaly

Skeletal:
arthritis
joint pain
peripheral osteolysis

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

Clinical features from OMIM®:

228000 (Updated 08-Dec-2022)

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 nervous system MP:0003631 10 ACER3 AP3M2 ASAH1 GALC GLA GM2A
2 homeostasis/metabolism MP:0005376 9.8 ACER1 ACER2 ACER3 ASAH1 ASAH2 CERK
3 liver/biliary system MP:0005370 9.7 ASAH1 GALC GLA NPC1 NPC2 PSAP
4 behavior/neurological MP:0005386 9.44 ACER1 ACER3 AP3M2 ASAH1 CERK GALC

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 Completed NCT03233841
2 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Active, not 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 Lipogranulomatosis 28 ASAH1

Anatomical Context for Farber Lipogranulomatosis

Organs/tissues related to Farber Lipogranulomatosis:

MalaCards : Skin, Spleen, Liver, Spinal Cord, Eye, Brain, Heart
ODiseA: Blood And Bone Marrow

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(show top 50) (show all 226)
# Title Authors PMID Year
1
Farber disease in a patient from China. 62 57 5
32706452 2020
2
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. 62 57 5
26945816 2016
3
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene. 62 57 5
23707712 2013
4
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 62 57 5
11241842 2001
5
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 62 57 5
10610716 1999
6
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 62 57 5
9128814 1997
7
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. 62 57 5
8955159 1996
8
Acid ceramidase deficiency: Farber disease and SMA-PME. 62 57
30029679 2018
9
Novel biochemical abnormalities and genotype in Farber disease. 62 5
22565078 2012
10
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 62 5
16951918 2006
11
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 62 57
8892023 1996
12
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. 62 57
2504515 1989
13
Farber lipogranulomatosis: an unusual presentation in a black child. 62 57
2854742 1986
14
Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. 62 57
3103372 1986
15
Farber's disease. Light and electron microscopic study of the eye. 62 57
2983648 1985
16
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 62 57
3921761 1985
17
Phenotypic variability in siblings with Farber disease. 62 57
6423791 1984
18
Prenatal diagnosis of Farber's disease. 62 57
91777 1979
19
Familial lipogranulomatosis (Farber's disease). 62 57
1277575 1976
20
Ceramidase deficiency in Farber's disease (lipogranulomatosis). 62 57
4678225 1972
21
Chemical studies of Farber's disease. 62 57
5535909 1970
22
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 62 57
13859108 1962
23
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 5
24164096 2014
24
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. 5
23137060 2012
25
Impaired autophagic flux and dedifferentiation in podocytes lacking Asah1 gene: Role of lysosomal TRPML1 channel. 62
36302466 2023
26
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency. 62
36083604 2022
27
Cryptogenic posterior circulation stroke in children. 62
36380707 2022
28
rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis. 62
35902747 2022
29
Neutral ceramidase deficiency protects against cisplatin-induced acute kidney injury. 62
35151662 2022
30
Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature. 62
35186337 2022
31
Rare Diseases in Glycosphingolipid Metabolism. 62
35503182 2022
32
A case of ASAH1-related pure SMA evolving into adult-onset Farber disease. 62
34240417 2021
33
Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease. 62
34045195 2021
34
Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1. 62
34088014 2021
35
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. 62
34377212 2021
36
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. 62
32875576 2020
37
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. 62
32627310 2020
38
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. 62
32449975 2020
39
Endogenous levels of 1-O-acylceramides increase upon acidic ceramidase deficiency and decrease due to loss of Dgat1 in a tissue-dependent manner. 62
32474112 2020
40
Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration. 62
32498325 2020
41
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 62
32098196 2020
42
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. 62
32111095 2020
43
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease. 62
31835809 2019
44
Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis. 62
31789304 2019
45
Endothelial acid ceramidase in exosome-mediated release of NLRP3 inflammasome products during hyperglycemia: Evidence from endothelium-specific deletion of Asah1 gene. 62
31647995 2019
46
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. 62
31882772 2019
47
Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy. 62
31772410 2019
48
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. 62
31186526 2019
49
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. 62
31527255 2019
50
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 62
31022067 2019

Variations for Farber Lipogranulomatosis

ClinVar genetic disease variations for Farber Lipogranulomatosis:

5 (show top 50) (show all 164)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASAH1 NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) SNV Pathogenic
94 rs137853596 GRCh37: 8:17916933-17916933
GRCh38: 8:18059424-18059424
2 ASAH1 NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) SNV Pathogenic
95 rs137853597 GRCh37: 8:17919892-17919892
GRCh38: 8:18062383-18062383
3 ASAH1 NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) SNV Pathogenic
91 rs137853593 GRCh37: 8:17919233-17919233
GRCh38: 8:18061724-18061724
4 ASAH1 NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) SNV Pathogenic
92 rs137853594 GRCh37: 8:17922010-17922010
GRCh38: 8:18064501-18064501
5 ASAH1 NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) DEL Pathogenic
812471 rs1281024431 GRCh37: 8:17922012-17922013
GRCh38: 8:18064503-18064504
6 ASAH1 NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) SNV Pathogenic
812473 rs1588989964 GRCh37: 8:17927314-17927314
GRCh38: 8:18069805-18069805
7 ASAH1 NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) SNV Pathogenic
585439 rs543697946 GRCh37: 8:17916894-17916894
GRCh38: 8:18059385-18059385
8 ASAH1 NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) SNV Pathogenic
812477 rs1421841663 GRCh37: 8:17920695-17920695
GRCh38: 8:18063186-18063186
9 ASAH1 NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) SNV Pathogenic
812478 rs1564537266 GRCh37: 8:17918911-17918911
GRCh38: 8:18061402-18061402
10 ASAH1 NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) SNV Pathogenic
812480 rs1588978873 GRCh37: 8:17919918-17919918
GRCh38: 8:18062409-18062409
11 ASAH1 NM_177924.5(ASAH1):c.383-10_383-6del MICROSAT Pathogenic
812484 rs761372687 GRCh37: 8:17922046-17922050
GRCh38: 8:18064537-18064541
12 ASAH1 NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) DUP Pathogenic
812486 rs771718522 GRCh37: 8:17928850-17928851
GRCh38: 8:18071341-18071342
13 ASAH1 NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) SNV Pathogenic
812498 rs1588973237 GRCh37: 8:17916357-17916357
GRCh38: 8:18058848-18058848
14 ASAH1 NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del) MICROSAT Pathogenic
812499 rs1588989947 GRCh37: 8:17927312-17927314
GRCh38: 8:18069803-18069805
15 ASAH1 NM_177924.5(ASAH1):c.256dup (p.Thr86fs) DUP Pathogenic
812502 rs1336696568 GRCh37: 8:17927347-17927348
GRCh38: 8:18069838-18069839
16 ASAH1 NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly) SNV Pathogenic
1299374 GRCh37: 8:17921996-17921996
GRCh38: 8:18064487-18064487
17 ASAH1 NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) SNV Pathogenic
1299375 GRCh37: 8:17924753-17924753
GRCh38: 8:18067244-18067244
18 ASAH1 NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) SNV Pathogenic
191340 rs756455049 GRCh37: 8:17919931-17919931
GRCh38: 8:18062422-18062422
19 ASAH1 NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe) DUP Pathogenic
812481 rs1588978684 GRCh37: 8:17919836-17919837
GRCh38: 8:18062327-18062328
20 ASAH1 NM_177924.5(ASAH1):c.917+4A>G SNV Pathogenic
55908 rs397509415 GRCh37: 8:17917077-17917077
GRCh38: 8:18059568-18059568
21 ASAH1 NM_177924.5(ASAH1):c.125+211_383-1330del DEL Pathogenic
545564 GRCh37: 8:17923370-17932839
GRCh38: 8:18065861-18075330
22 ASAH1 NM_177924.5(ASAH1):c.457+4A>G SNV Likely Pathogenic
812501 rs767864356 GRCh37: 8:17921962-17921962
GRCh38: 8:18064453-18064453
23 ASAH1 NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) SNV Likely Pathogenic
812490 rs543697946 GRCh37: 8:17916894-17916894
GRCh38: 8:18059385-18059385
24 ASAH1 NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) SNV Likely Pathogenic
1698792 GRCh37: 8:17933081-17933081
GRCh38: 8:18075572-18075572
25 ASAH1 NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) SNV Likely Pathogenic
812496 rs1588982399 GRCh37: 8:17922011-17922011
GRCh38: 8:18064502-18064502
26 ASAH1 NM_177924.5(ASAH1):c.998G>A (p.Arg333His) SNV Likely Pathogenic
812497 rs1588974098 GRCh37: 8:17916893-17916893
GRCh38: 8:18059384-18059384
27 ASAH1 NM_177924.5(ASAH1):c.648+1G>C SNV Likely Pathogenic
505533 rs1411267767 GRCh37: 8:17919787-17919787
GRCh38: 8:18062278-18062278
28 ASAH1 NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly) SNV Likely Pathogenic
1687065 GRCh37: 8:17922010-17922010
GRCh38: 8:18064501-18064501
29 ASAH1 NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) SNV Likely Pathogenic
812503 rs1588986195 GRCh37: 8:17924797-17924797
GRCh38: 8:18067288-18067288
30 ASAH1 NM_177924.5(ASAH1):c.704-2A>G SNV Likely Pathogenic
812504 rs1588977181 GRCh37: 8:17918969-17918969
GRCh38: 8:18061460-18061460
31 ASAH1 NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro) SNV Likely Pathogenic
812487 rs377749094 GRCh37: 8:17919221-17919221
GRCh38: 8:18061712-18061712
32 ASAH1 NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) SNV Likely Pathogenic
812488 rs1588973247 GRCh37: 8:17916358-17916358
GRCh38: 8:18058849-18058849
33 ASAH1 NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) SNV Likely Pathogenic
812489 rs1588999402 GRCh37: 8:17933083-17933083
GRCh38: 8:18075574-18075574
34 ASAH1 NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) SNV Likely Pathogenic
812491 rs746513660 GRCh37: 8:17915056-17915056
GRCh38: 8:18057547-18057547
35 ASAH1 NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) SNV Likely Pathogenic
812492 rs1588977010 GRCh37: 8:17918901-17918901
GRCh38: 8:18061392-18061392
36 ASAH1 NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) SNV Likely Pathogenic
812493 rs895669204 GRCh37: 8:17917165-17917165
GRCh38: 8:18059656-18059656
37 ASAH1 NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) SNV Likely Pathogenic
812494 rs1588974267 GRCh37: 8:17916932-17916932
GRCh38: 8:18059423-18059423
38 ASAH1 NM_177924.5(ASAH1):c.917+5G>A SNV Likely Pathogenic
812506 rs1588974593 GRCh37: 8:17917076-17917076
GRCh38: 8:18059567-18059567
39 ASAH1 NM_177924.5(ASAH1):c.1098+1G>T SNV Likely Pathogenic
812507 rs763842677 GRCh37: 8:17916343-17916343
GRCh38: 8:18058834-18058834
40 ASAH1 NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) SNV Likely Pathogenic
812483 rs762756953 GRCh37: 8:17919898-17919898
GRCh38: 8:18062389-18062389
41 ASAH1 NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) SNV Likely Pathogenic
812479 rs1588973202 GRCh37: 8:17916346-17916346
GRCh38: 8:18058837-18058837
42 ASAH1 NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) SNV Likely Pathogenic
812475 rs1588978706 GRCh37: 8:17919843-17919843
GRCh38: 8:18062334-18062334
43 ASAH1 NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) SNV Likely Pathogenic
812474 rs1588982421 GRCh37: 8:17922015-17922015
GRCh38: 8:18064506-18064506
44 ASAH1 NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) SNV Likely Pathogenic
812472 rs1588989964 GRCh37: 8:17927314-17927314
GRCh38: 8:18069805-18069805
45 ASAH1 NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) SNV Likely Pathogenic
93 rs137853595 GRCh37: 8:17933068-17933068
GRCh38: 8:18075559-18075559
46 ASAH1 NM_177924.5(ASAH1):c.*686T>C SNV Uncertain Significance
362360 rs886062777 GRCh37: 8:17914357-17914357
GRCh38: 8:18056848-18056848
47 ASAH1 NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) SNV Uncertain Significance
362376 rs141068211 GRCh37: 8:17919807-17919807
GRCh38: 8:18062298-18062298
48 ASAH1 NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) SNV Uncertain Significance
362382 rs146531900 GRCh37: 8:17924750-17924750
GRCh38: 8:18067241-18067241
49 ASAH1 NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser) SNV Uncertain Significance
362385 rs373524235 GRCh37: 8:17928893-17928893
GRCh38: 8:18071384-18071384
50 ASAH1 NM_177924.5(ASAH1):c.*933T>C SNV Uncertain Significance
362352 rs886062776 GRCh37: 8:17914110-17914110
GRCh38: 8:18056601-18056601

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 rs1554808625
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

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 lysosome GO:0005764 9.89 SMPD1 PSAP NPC2 NPC1 NAGA GM2A
2 azurophil granule lumen GO:0035578 9.63 NPC2 GM2A GLA
3 lysosomal lumen GO:0043202 9.47 SMPD1 PSAP NPC2 GM2A GLA GALC

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 10.07 CERK GALC GM2A SMPD1 UGCG
2 cholesterol metabolic process GO:0008203 10.03 SMPD1 NPC2 NPC1
3 sphingosine biosynthetic process GO:0046512 10.02 ASAH2 ASAH1 ACER3 ACER2 ACER1
4 keratinocyte differentiation GO:0030216 10.01 UGCG ASAH1 ACER1
5 ceramide biosynthetic process GO:0046513 10.01 SMPD2 SMPD1 ASAH2 ASAH1
6 sphingolipid biosynthetic process GO:0030148 10 ACER3 ACER2 ACER1
7 ceramide metabolic process GO:0006672 9.86 SMPD1 CERK ASAH2 ACER3 ACER2 ACER1
8 intracellular cholesterol transport GO:0032367 9.85 NPC2 NPC1
9 ceramide catabolic process GO:0046514 9.85 ACER1 ACER2 ACER3 ASAH1 ASAH2
10 sphingomyelin catabolic process GO:0006685 9.81 SMPD2 SMPD1
11 glycoside catabolic process GO:0016139 9.8 GLA NAGA
12 sphingolipid metabolic process GO:0006665 9.8 UGCG SMPD2 PSAP GM2A GALC CERK
13 sphingomyelin metabolic process GO:0006684 9.78 SMPD2 SMPD1
14 metabolic process GO:0008152 9.73 SMPD1 NAGA GLA GALC
15 glycosylceramide catabolic process GO:0046477 9.63 NAGA GLA
16 lipid metabolic process GO:0006629 9.53 UGCG SMPD2 SMPD1 PSAP NPC2 NPC1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.93 ACER1 ACER2 ACER3 ASAH1 ASAH2 GALC
2 dihydroceramidase activity GO:0071633 9.8 ACER3 ACER2 ACER1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.77 SMPD1 NAGA GLA GALC
4 sphingomyelin phosphodiesterase activity GO:0004767 9.76 SMPD2 SMPD1
5 alpha-galactosidase activity GO:0004557 9.71 NAGA GLA
6 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.65 ASAH1 ACER3 ACER2 ACER1
7 N-acylsphingosine amidohydrolase activity GO:0017040 9.65 ASAH2 ASAH1 ACER3 ACER2 ACER1
8 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.61 NAGA GLA GALC
9 ceramidase activity GO:0102121 9.32 ASAH2 ASAH1 ACER3 ACER2 ACER1

Sources for Farber Lipogranulomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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