FRBRL
MCID: FRB001
MIFTS: 58

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 20 43 58 73 36 13 44 15 39 71
Farber Disease 57 12 20 43 58 73 29 6
Acid Ceramidase Deficiency 57 12 20 43 58 73
Ceramidase Deficiency 57 74 20 43 53 73
N-Laurylsphingosine Deacylase Deficiency 57 12 20 73
Farber's Disease 74 20 43 53
Ac Deficiency 57 20 43 73
Frbrl 57 73
Acylsphingosine Deacylase Deficiency 43
Farber's Lipogranulomatosis 43
Farber-Uzman Syndrome 43
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


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


Summaries for Farber Lipogranulomatosis

MedlinePlus Genetics : 43 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 acid sphingomyelinase deficiency, 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, spleen and eye, and related phenotypes are arthritis and flexion contracture

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.

GARD : 20 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. Treatment is focused on managing the symptoms. Stem cell transplant is an option for some patients.

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 05-Mar-2021)

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 93)
# Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 31.4 ASAH2 ASAH1
2 acid sphingomyelinase deficiency 29.9 SMPD1 NPC1
3 mucolipidosis ii alpha/beta 29.8 SMPD1 PSAP GM2A
4 mucolipidosis 29.7 SMPD1 PSAP NPC1
5 lysosomal storage disease 29.6 SMPD1 PSAP NPC1 GM2A GALC
6 metachromatic leukodystrophy 29.2 SMPD1 PSAP NPC1 GM2A GALC ASAH1
7 sandhoff disease 29.2 UGCG SMPD1 PSAP NPC1 GM2A ASAH1
8 krabbe disease 29.1 UGCG SMPD1 PSAP NPC1 GALC ASAH1
9 spinal muscular atrophy with progressive myoclonic epilepsy 28.9 SMPD1 RBM14-RBM4 GALC CERS1 ASAH2 ASAH1
10 gaucher's disease 28.8 UGCG SMPD1 PSAP NPC1 GALC ASAH2
11 lipid storage disease 28.7 UGCG SMPD2 SMPD1 PSAP NPC1 GALC
12 sphingolipidosis 28.4 UGCG SMPD2 SMPD1 PSAP NPC1 GM2A
13 asah1-related disorders 10.3
14 juvenile rheumatoid arthritis 10.3
15 autosomal recessive disease 10.3
16 myeloma, multiple 10.2
17 microcytic anemia 10.1
18 obstructive jaundice 10.1
19 pathologic nystagmus 10.1
20 charcot-marie-tooth disease, axonal, type 2v 10.1 GM2A ASAH1
21 myoclonic epilepsy of unverricht and lundborg 10.1
22 spinal muscular atrophy 10.1
23 early myoclonic encephalopathy 10.1
24 muscular atrophy 10.1
25 arthritis 10.1
26 infantile krabbe disease 10.1 PSAP GALC
27 gm2-gangliosidosis, ab variant 10.0 PSAP GM2A ASAH1
28 combined saposin deficiency 10.0 PSAP GALC
29 leukodystrophy 10.0
30 motor neuron disease 10.0
31 hypotonia 10.0
32 melanoma 10.0
33 acute liver failure 10.0
34 nail-patella syndrome 10.0
35 bronchopneumonia 10.0
36 cholestasis 10.0
37 skin disease 10.0
38 athyreosis 10.0
39 lysosomal and lipase deficiency 10.0 SMPD1 NPC1
40 niemann-pick disease, type c2 10.0 SMPD1 PSAP NPC1
41 intracranial berry aneurysm 9.9 CERK ASAH2 ASAH1
42 gangliosidosis 9.9 UGCG PSAP GM2A
43 niemann-pick disease, type b 9.9 SMPD1 NPC1
44 hydrocephalus 9.9
45 liver disease 9.9
46 cytokine deficiency 9.9
47 splenomegaly 9.9
48 c syndrome 9.9 UGCG SMPD1 NPC1
49 hydrops fetalis, nonimmune 9.9
50 sialuria 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:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
3 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
4 periarticular subcutaneous nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0007470
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
9 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
10 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
11 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
12 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
13 foam cells in visceral organs and cns 58 31 frequent (33%) Frequent (79-30%) HP:0003640
14 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
15 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
16 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
17 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
18 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
19 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
20 recurrent upper respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002788
21 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
22 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
23 atelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100750
24 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
25 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
26 weak cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001612
27 abnormality of the wrist 58 31 occasional (7.5%) Occasional (29-5%) HP:0003019
28 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
29 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
30 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
31 diffuse reticular or finely nodular infiltrations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002207
32 recurrent fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001954
33 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
34 abnormality of the knee 58 31 occasional (7.5%) Occasional (29-5%) HP:0002815
35 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
36 laryngeal stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006511
37 abnormal epiglottis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005483
38 abnormal conjunctiva morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000502
39 visual fixation instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0025405
40 nodular pattern on pulmonary hrct 58 31 occasional (7.5%) Occasional (29-5%) HP:0025392
41 abnormal sternum morphology 31 occasional (7.5%) HP:0000766
42 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
43 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
44 anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001903
45 opacification of the corneal stroma 58 31 very rare (1%) Very rare (<4-1%) HP:0007759
46 ascites 58 31 very rare (1%) Very rare (<4-1%) HP:0001541
47 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
48 elevated hepatic transaminase 58 31 very rare (1%) Very rare (<4-1%) HP:0002910
49 hepatic fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001395
50 short toe 58 31 very rare (1%) Very rare (<4-1%) HP:0001831

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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

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

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

Respiratory Larynx:
laryngeal nodules

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

Clinical features from OMIM®:

228000 (Updated 05-Mar-2021)

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 10.03 ACER1 ACER3 AP3M2 ASAH1 CERK CERS1
2 homeostasis/metabolism MP:0005376 9.97 ACER1 ACER2 ACER3 ASAH1 ASAH2 CERK
3 mortality/aging MP:0010768 9.7 ACER1 ACER3 ASAH1 CERK CERS1 GALC
4 nervous system MP:0003631 9.36 ACER3 AP3M2 ASAH1 CERS1 GALC GM2A

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 Disease 29 ASAH1

Anatomical Context for Farber Lipogranulomatosis

MalaCards organs/tissues related to Farber Lipogranulomatosis:

40
Liver, Spleen, Eye, Spinal Cord, Brain, Skeletal Muscle, Skin

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(show top 50) (show all 141)
# 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 6 57
23707712 2013
2
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 61 57 6
11241842 2001
3
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 61 57 6
10610716 1999
4
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 61 57 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. 57 6 61
8955159 1996
6
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 6 61
16951918 2006
7
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 57 61
8892023 1996
8
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. 57 61
2504515 1989
9
Farber lipogranulomatosis: an unusual presentation in a black child. 57 61
2854742 1986
10
Phenotypic variability in siblings with Farber disease. 61 57
6423791 1984
11
Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. 57
3103372 1986
12
Farber's disease. Light and electron microscopic study of the eye. 57
2983648 1985
13
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 57
3921761 1985
14
Prenatal diagnosis of Farber's disease. 57
91777 1979
15
Familial lipogranulomatosis (Farber's disease). 57
1277575 1976
16
Ceramidase deficiency in Farber's disease (lipogranulomatosis). 57
4678225 1972
17
Chemical studies of Farber's disease. 57
5535909 1970
18
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 57
13859108 1962
19
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. 61
32875576 2020
20
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. 61
32627310 2020
21
Farber disease in a patient from China. 61
32706452 2020
22
Endogenous levels of 1-O-acylceramides increase upon acidic ceramidase deficiency and decrease due to loss of Dgat1 in a tissue-dependent manner. 61
32474112 2020
23
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. 61
32449975 2020
24
Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration. 61
32498325 2020
25
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
26
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. 61
32111095 2020
27
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. 61
31882772 2019
28
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease. 61
31835809 2019
29
Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis. 61
31789304 2019
30
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. 61
31186526 2019
31
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. 61
31527255 2019
32
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 61
31022067 2019
33
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. 61
31455396 2019
34
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism. 61
31284408 2019
35
Allogeneic hematopoietic cell transplantation in Farber disease. 61
30815900 2019
36
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. 61
31240154 2019
37
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
38
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. 61
30472209 2019
39
Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites. 61
30448190 2018
40
Pathological manifestations of Farber disease in a new mouse model. 61
29908121 2018
41
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
42
Structural basis for the activation of acid ceramidase. 61
29692406 2018
43
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
44
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. 61
29167126 2018
45
ASAH1-Related Disorders 61
29595935 2018
46
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
47
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency. 61
29379059 2018
48
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. 61
28733637 2017
49
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. 61
28275553 2017
50
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. 61
28342444 2017

Variations for Farber Lipogranulomatosis

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) SNV Pathogenic 94 rs137853596 8:17916933-17916933 8:18059424-18059424
2 ASAH1 NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) SNV Pathogenic 95 rs137853597 8:17919892-17919892 8:18062383-18062383
3 ASAH1 NM_177924.5(ASAH1):c.917+4A>G SNV Pathogenic 55908 rs397509415 8:17917077-17917077 8:18059568-18059568
4 ASAH1 NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) SNV Pathogenic 91 rs137853593 8:17919233-17919233 8:18061724-18061724
5 ASAH1 NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) SNV Pathogenic 92 rs137853594 8:17922010-17922010 8:18064501-18064501
6 ASAH1 NM_177924.4(ASAH1):c.126-3941_382+1358del Deletion Pathogenic 545564 8:17923371-17932840 8:18065862-18075331
7 ASAH1 NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) Deletion Pathogenic 812471 rs1281024431 8:17922012-17922013 8:18064503-18064504
8 ASAH1 NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) SNV Pathogenic 812473 rs1588989964 8:17927314-17927314 8:18069805-18069805
9 ASAH1 NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) SNV Pathogenic 585439 rs543697946 8:17916894-17916894 8:18059385-18059385
10 ASAH1 NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) SNV Pathogenic 812477 rs1421841663 8:17920695-17920695 8:18063186-18063186
11 ASAH1 NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) SNV Pathogenic 812478 rs1564537266 8:17918911-17918911 8:18061402-18061402
12 ASAH1 NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) SNV Pathogenic 812480 rs1588978873 8:17919918-17919918 8:18062409-18062409
13 ASAH1 NM_177924.5(ASAH1):c.594_599dup (p.Lys200_Ala201insAsnPhe) Duplication Pathogenic 812481 rs1588978684 8:17919836-17919837 8:18062327-18062328
14 ASAH1 NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) Duplication Pathogenic 812486 rs771718522 8:17928850-17928851 8:18071341-18071342
15 ASAH1 NM_177924.5(ASAH1):c.383-10_383-6del Microsatellite Pathogenic 812484 rs761372687 8:17922046-17922050 8:18064537-18064541
16 ASAH1 NM_177924.5(ASAH1):c.256dup (p.Thr86fs) Duplication Pathogenic 812502 rs1336696568 8:17927347-17927348 8:18069838-18069839
17 ASAH1 NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) SNV Pathogenic 812498 rs1588973237 8:17916357-17916357 8:18058848-18058848
18 ASAH1 NC_000008.11:g.18069805_18069807ACC[1] Microsatellite Pathogenic 812499 rs1588989947 8:17927312-17927314 8:18069803-18069805
19 ASAH1 NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) SNV Pathogenic 545563 rs1554808625 8:17919195-17919195 8:18061686-18061686
20 ASAH1 NM_177924.5(ASAH1):c.457+4A>G SNV Likely pathogenic 812501 rs767864356 8:17921962-17921962 8:18064453-18064453
21 ASAH1 NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) SNV Likely pathogenic 812503 rs1588986195 8:17924797-17924797 8:18067288-18067288
22 ASAH1 NM_177924.5(ASAH1):c.704-2A>G SNV Likely pathogenic 812504 rs1588977181 8:17918969-17918969 8:18061460-18061460
23 ASAH1 NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) SNV Likely pathogenic 812496 rs1588982399 8:17922011-17922011 8:18064502-18064502
24 ASAH1 NM_177924.5(ASAH1):c.998G>A (p.Arg333His) SNV Likely pathogenic 812497 rs1588974098 8:17916893-17916893 8:18059384-18059384
25 ASAH1 NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro) SNV Likely pathogenic 812487 rs377749094 8:17919221-17919221 8:18061712-18061712
26 ASAH1 NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) SNV Likely pathogenic 812488 rs1588973247 8:17916358-17916358 8:18058849-18058849
27 ASAH1 NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) SNV Likely pathogenic 812489 rs1588999402 8:17933083-17933083 8:18075574-18075574
28 ASAH1 NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) SNV Likely pathogenic 812490 rs543697946 8:17916894-17916894 8:18059385-18059385
29 ASAH1 NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) SNV Likely pathogenic 812491 rs746513660 8:17915056-17915056 8:18057547-18057547
30 ASAH1 NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) SNV Likely pathogenic 812492 rs1588977010 8:17918901-17918901 8:18061392-18061392
31 ASAH1 NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) SNV Likely pathogenic 812493 rs895669204 8:17917165-17917165 8:18059656-18059656
32 ASAH1 NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) SNV Likely pathogenic 812494 rs1588974267 8:17916932-17916932 8:18059423-18059423
33 ASAH1 NM_177924.5(ASAH1):c.917+5G>A SNV Likely pathogenic 812506 rs1588974593 8:17917076-17917076 8:18059567-18059567
34 ASAH1 NM_177924.5(ASAH1):c.1098+1G>T SNV Likely pathogenic 812507 rs763842677 8:17916343-17916343 8:18058834-18058834
35 ASAH1 NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) SNV Likely pathogenic 812483 rs762756953 8:17919898-17919898 8:18062389-18062389
36 ASAH1 NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) SNV Likely pathogenic 812479 rs1588973202 8:17916346-17916346 8:18058837-18058837
37 ASAH1 NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) SNV Likely pathogenic 812475 rs1588978706 8:17919843-17919843 8:18062334-18062334
38 ASAH1 NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) SNV Likely pathogenic 812474 rs1588982421 8:17922015-17922015 8:18064506-18064506
39 ASAH1 NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) SNV Likely pathogenic 812472 rs1588989964 8:17927314-17927314 8:18069805-18069805
40 ASAH1 NM_177924.5(ASAH1):c.648+1G>C SNV Likely pathogenic 505533 rs1411267767 8:17919787-17919787 8:18062278-18062278
41 ASAH1 NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) SNV Likely pathogenic 93 rs137853595 8:17933068-17933068 8:18075559-18075559
42 ASAH1 NM_177924.5(ASAH1):c.*686T>C SNV Uncertain significance 362360 rs886062777 8:17914357-17914357 8:18056848-18056848
43 ASAH1 NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) SNV Uncertain significance 362382 rs146531900 8:17924750-17924750 8:18067241-18067241
44 ASAH1 NM_177924.5(ASAH1):c.262G>A (p.Val88Met) SNV Uncertain significance 362383 rs368365768 8:17927342-17927342 8:18069833-18069833
45 ASAH1 NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser) SNV Uncertain significance 362385 rs373524235 8:17928893-17928893 8:18071384-18071384
46 ASAH1 NM_177924.5(ASAH1):c.457+7G>A SNV Uncertain significance 362379 rs189892461 8:17921959-17921959 8:18064450-18064450
47 ASAH1 NM_004315.6(ASAH1):c.126+443A>T SNV Uncertain significance 362392 rs549133239 8:17941742-17941742 8:18084233-18084233
48 ASAH1 NM_177924.5(ASAH1):c.*933T>C SNV Uncertain significance 362352 rs886062776 8:17914110-17914110 8:18056601-18056601
49 ASAH1 NM_177924.5(ASAH1):c.*176_*177del Deletion Uncertain significance 362369 rs374131883 8:17914866-17914867 8:18057357-18057358
50 ASAH1 NM_177924.5(ASAH1):c.-6A>G SNV Uncertain significance 362387 rs200503438 8:17941573-17941573 8:18084064-18084064

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 UGCG SMPD3 SMPD2 SMPD1 PSAP NPC1
2
Show member pathways
11.87 UGCG SMPD3 SMPD2 SMPD1 PSAP GM2A
3
Show member pathways
11.85 SMPD3 SMPD2 SMPD1
4 11.83 SMPD3 SMPD2 SMPD1 ASAH2 ASAH1 ACER1
5 11.81 SMPD1 PSAP NPC1 GM2A GALC ASAH1
6
Show member pathways
11.8 SMPD3 SMPD2 SMPD1
7
Show member pathways
11.74 SMPD3 SMPD1 CERK
8 11.58 SMPD2 SMPD1 CERS1 ASAH2 ASAH1 ACER2
9 11.28 SMPD3 SMPD1 ASAH1
10 10.94 SMPD2 ASAH1
11 10.81 SMPD3 SMPD2 SMPD1
12 10.51 ASAH2 ASAH1 ACER2 ACER1
13 10.43 SMPD3 SMPD2 SMPD1

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 membrane GO:0016020 10.18 UGCG SMPD3 SMPD2 SMPD1 NPC1 CERS1
2 integral component of membrane GO:0016021 10.03 UGCG SMPD3 SMPD2 SMPD1 NPC1 CERS1
3 Golgi membrane GO:0000139 9.72 UGCG SMPD3 ASAH2 ACER3 ACER2
4 Golgi apparatus GO:0005794 9.7 UGCG SMPD3 NPC1 ASAH2 AP3M2 ACER3
5 lysosome GO:0005764 9.43 SMPD1 PSAP NPC1 GM2A GALC ASAH1
6 lysosomal lumen GO:0043202 9.02 SMPD1 PSAP GM2A GALC ASAH1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 9.81 UGCG SMPD3 SMPD2 SMPD1 PSAP GM2A
2 ceramide biosynthetic process GO:0046513 9.8 SMPD2 SMPD1 CERS1 ASAH2 ASAH1
3 ceramide metabolic process GO:0006672 9.8 SMPD3 SMPD1 CERK ASAH2 ACER3 ACER2
4 sphingolipid biosynthetic process GO:0030148 9.78 CERS1 ACER3 ACER2 ACER1
5 sphingosine biosynthetic process GO:0046512 9.77 ASAH2 ASAH1 ACER3 ACER2 ACER1
6 sphingolipid metabolic process GO:0006665 9.77 UGCG SMPD3 SMPD2 PSAP GM2A GALC
7 ceramide catabolic process GO:0046514 9.72 ASAH2 ASAH1 ACER3 ACER2 ACER1
8 lipid transport GO:0006869 9.71 PSAP NPC1 GM2A
9 keratinocyte differentiation GO:0030216 9.67 UGCG ASAH1 ACER1
10 sphingomyelin catabolic process GO:0006685 9.63 SMPD3 SMPD2 SMPD1
11 sphingomyelin metabolic process GO:0006684 9.61 SMPD3 SMPD2 SMPD1
12 lysosomal transport GO:0007041 9.52 PSAP NPC1
13 positive regulation of ceramide biosynthetic process GO:2000304 9.51 SMPD3 SMPD2
14 lipid metabolic process GO:0006629 9.44 UGCG SMPD3 SMPD2 PSAP NPC1 GM2A

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.07 SMPD3 SMPD2 SMPD1 GM2A GALC ASAH2
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.56 ASAH1 ACER3 ACER2 ACER1
3 sphingomyelin phosphodiesterase activity GO:0004767 9.5 SMPD3 SMPD2 SMPD1
4 lipid transporter activity GO:0005319 9.46 NPC1 GM2A
5 dihydroceramidase activity GO:0071633 9.46 ASAH2 ACER3 ACER2 ACER1
6 phospholipase activity GO:0004620 9.43 SMPD3 SMPD2
7 phytoceramidase activity GO:0070774 9.4 ASAH2 ACER3
8 N-acylsphingosine amidohydrolase activity GO:0017040 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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