FRBRL
MCID: FRB001
MIFTS: 59

Farber Lipogranulomatosis (FRBRL)

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

Aliases & Classifications for Farber Lipogranulomatosis

MalaCards integrated aliases for Farber Lipogranulomatosis:

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

Characteristics:

Orphanet epidemiological data:

58
farber disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

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


Summaries for Farber Lipogranulomatosis

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

MalaCards based summary : Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and mucolipidosis, 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 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.

NIH Rare Diseases : 52 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 : 56 Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by Alves et al., 2013). (228000)

NINDS : 53 Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset typically begins in early infancy but may occur later in life. Symptoms of the classic form  may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Some people may need a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

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

UniProtKB/Swiss-Prot : 73 Farber lipogranulomatosis: An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age.

Wikipedia : 74 Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic... more...

Related Diseases for Farber Lipogranulomatosis

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 31.8 ASAH2 ASAH1
2 mucolipidosis 30.0 SMPD1 SLC17A5 PSAP
3 krabbe disease 29.9 SMPD1 PSAP GALC ASAH1
4 lysosomal storage disease 29.8 SMPD1 PSAP GM2A GALC
5 leukodystrophy 29.8 SLC17A5 PSAP GALC ACER3
6 mucolipidosis ii alpha/beta 29.5 SMPD1 SLC17A5 PSAP GM2A
7 metachromatic leukodystrophy 29.4 SMPD1 PSAP GM2A GALC ASAH1
8 sandhoff disease 29.4 UGCG SMPD1 PSAP GM2A ASAH1
9 gaucher disease, type i 29.3 UGCG SMPD1 PSAP GALC ASAH2
10 lipid storage disease 28.9 UGCG SMPD2 SMPD1 PSAP GALC ASAH1
11 sphingolipidosis 28.7 UGCG SMPD1 PSAP GM2A GALC ASAH2
12 spinal muscular atrophy with progressive myoclonic epilepsy 28.6 SMPD1 RBM14-RBM4 CERS1 ASAH2 ASAH1 ACER3
13 cerebral amyloid angiopathy, cst3-related 11.4
14 early invasive cervical adenocarcinoma 11.3
15 adenocarcinoma 10.5
16 asah1-related disorders 10.5
17 juvenile rheumatoid arthritis 10.4
18 pituitary tumors 10.4
19 renal hypodysplasia/aplasia 1 10.3
20 autosomal recessive disease 10.3
21 juvenile arthritis 10.3
22 microcytic anemia 10.3
23 obstructive jaundice 10.3
24 arthritis 10.3
25 pathologic nystagmus 10.3
26 in situ carcinoma 10.2
27 gaucher disease, type ii 10.2 SMPD1 PSAP
28 infantile krabbe disease 10.2 PSAP GALC
29 breast cancer 10.2
30 hyperprolactinemia 10.2
31 hydronephrosis 10.2
32 adenocarcinoma in situ 10.2
33 intermediate coronary syndrome 10.2
34 glycoproteinosis 10.1 SLC17A5 PSAP
35 combined saposin deficiency 10.1 PSAP GALC
36 nail-patella syndrome 10.1
37 bronchopneumonia 10.1
38 cholestasis 10.1
39 skin disease 10.1
40 athyreosis 10.1
41 lysosomal and lipase deficiency 10.1 SMPD1 SLC17A5
42 niemann-pick disease, type a 10.1 SMPD1 PSAP ASAH2
43 bladder cancer 10.1
44 prostate cancer 10.1
45 ductal carcinoma in situ 10.1
46 squamous cell papilloma 10.1
47 papilloma 10.1
48 adenoma 10.1
49 b-cell lymphoma 10.1
50 48,xyyy 10.1

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



Diseases related to Farber Lipogranulomatosis

Symptoms & Phenotypes for Farber Lipogranulomatosis

Human phenotypes related to Farber Lipogranulomatosis:

58 31 (show top 50) (show all 75)
# 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 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
5 periarticular subcutaneous nodules 58 31 hallmark (90%) Very frequent (99-80%) HP:0007470
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
9 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
10 cherry red spot of the macula 58 31 frequent (33%) Frequent (79-30%) HP:0010729
11 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
12 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
13 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
14 foam cells in visceral organs and cns 58 31 frequent (33%) Frequent (79-30%) HP:0003640
15 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
16 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
17 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
18 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
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 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
24 atelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100750
25 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
26 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
27 abnormality of the sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000766
28 weak cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001612
29 abnormality of the wrist 58 31 occasional (7.5%) Occasional (29-5%) HP:0003019
30 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
31 macular degeneration 58 31 occasional (7.5%) Occasional (29-5%) HP:0000608
32 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
33 diffuse reticular or finely nodular infiltrations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002207
34 recurrent fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001954
35 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
36 abnormality of the knee 58 31 occasional (7.5%) Occasional (29-5%) HP:0002815
37 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
38 laryngeal stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006511
39 abnormal epiglottis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005483
40 abnormal conjunctiva morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000502
41 visual fixation instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0025405
42 nodular pattern on pulmonary hrct 58 31 occasional (7.5%) Occasional (29-5%) HP:0025392
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 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639
47 ascites 58 31 very rare (1%) Very rare (<4-1%) HP:0001541
48 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
49 elevated hepatic transaminase 58 31 very rare (1%) Very rare (<4-1%) HP:0002910
50 hepatic fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001395

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skeletal:
arthritis
painful swollen joints

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 Liver:
hepatomegaly

Growth Other:
failure to thrive

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

UMLS symptoms related to Farber Lipogranulomatosis:


painful swollen joints

MGI Mouse Phenotypes related to Farber Lipogranulomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ACER1 ACER3 AP3M2 ASAH1 CERK CERS1
2 homeostasis/metabolism MP:0005376 9.97 ACER1 ACER2 ACER3 ASAH1 ASAH2 CERK
3 growth/size/body region MP:0005378 9.96 ACER1 ASAH1 CERK CERS1 GALC PSAP
4 mortality/aging MP:0010768 9.7 ACER1 ACER3 ASAH1 CERK CERS1 GALC
5 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, Skin, Spleen, Lung, Brain, Testes, Lymph Node

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(show top 50) (show all 139)
# 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. 6 61 56
23707712 2013
2
Molecular analysis of acid ceramidase deficiency in patients with Farber disease. 6 56 61
11241842 2001
3
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. 6 56 61
10610716 1999
4
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 56 61 6
9128814 1997
5
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. 61 56 6
8955159 1996
6
ASAH1-Related Disorders 61 6
29595935 2018
7
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 6 61
16951918 2006
8
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 61 56
8892023 1996
9
Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease. 56 61
2504515 1989
10
Farber lipogranulomatosis: an unusual presentation in a black child. 56 61
2854742 1986
11
Phenotypic variability in siblings with Farber disease. 56 61
6423791 1984
12
Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy. 56
3103372 1986
13
Farber's disease. Light and electron microscopic study of the eye. 56
2983648 1985
14
Clinical diagnosis of a new case of ceramidase deficiency (Farber's disease). 56
3921761 1985
15
Prenatal diagnosis of Farber's disease. 56
91777 1979
16
Familial lipogranulomatosis (Farber's disease). 56
1277575 1976
17
Ceramidase deficiency in Farber's disease (lipogranulomatosis). 56
4678225 1972
18
Chemical studies of Farber's disease. 56
5535909 1970
19
Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material. 56
13859108 1962
20
Elusive Roles of the Different Ceramidases in Human Health, Pathophysiology, and Tissue Regeneration. 61
32498325 2020
21
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
22
ASAH1 pathogenic variants associated with acid ceramidase deficiency (ACD): Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). 61
32449975 2020
23
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content. 61
32111095 2020
24
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease. 61
32098196 2020
25
Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis. 61
31789304 2019
26
Parallel Reaction Monitoring reveals structure-specific ceramide alterations in the zebrafish. 61
31882772 2019
27
Acid Sphingomyelinase Deficiency Ameliorates Farber Disease. 61
31835809 2019
28
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target. 61
31527255 2019
29
Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency. 61
31186526 2019
30
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 61
31022067 2019
31
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. 61
31455396 2019
32
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism. 61
31284408 2019
33
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. 61
31240154 2019
34
Allogeneic hematopoietic cell transplantation in Farber disease. 61
30815900 2019
35
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
36
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. 61
30472209 2019
37
Dose dependent actions of LCL521 on acid ceramidase and key sphingolipid metabolites. 61
30448190 2018
38
Pathological manifestations of Farber disease in a new mouse model. 61
29908121 2018
39
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
40
Structural basis for the activation of acid ceramidase. 61
29692406 2018
41
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
42
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. 61
29167126 2018
43
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency. 61
29379059 2018
44
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
45
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease. 61
28733637 2017
46
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice. 61
28275553 2017
47
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. 61
28342444 2017
48
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy. 61
27915031 2017
49
[A case report of childhood Farber's disease and literature review]. 61
28072961 2017
50
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. 61
27411168 2016

Variations for Farber Lipogranulomatosis

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6 (show top 50) (show all 141) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)SNV Pathogenic 545563 rs1554808625 8:17919195-17919195 8:18061686-18061686
2 ASAH1 NM_177924.4(ASAH1):c.126-3941_382+1358deldeletion Pathogenic 545564 8:17923371-17932840 8:18065862-18075331
3 ASAH1 NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)SNV Pathogenic 812498 8:17916357-17916357 8:18058848-18058848
4 ASAH1 NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly)SNV Pathogenic 812478 8:17918911-17918911 8:18061402-18061402
5 ASAH1 NM_177924.5(ASAH1):c.594_599dup (p.Lys200_Ala201insAsnPhe)duplication Pathogenic 812481 8:17919836-17919837 8:18062327-18062328
6 ASAH1 NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)SNV Pathogenic 812480 8:17919918-17919918 8:18062409-18062409
7 ASAH1 NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)SNV Pathogenic 812477 8:17920695-17920695 8:18063186-18063186
8 ASAH1 NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)deletion Pathogenic 812471 8:17922012-17922013 8:18064503-18064504
9 ASAH1 NC_000008.11:g.18069805_18069807ACC[1]short repeat Pathogenic 812499 8:17927312-17927314 8:18069803-18069805
10 ASAH1 NM_177924.5(ASAH1):c.290T>A (p.Val97Glu)SNV Pathogenic 812473 8:17927314-17927314 8:18069805-18069805
11 ASAH1 NM_177924.5(ASAH1):c.256dup (p.Thr86fs)duplication Pathogenic 812502 8:17927347-17927348 8:18069838-18069839
12 ASAH1 NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)duplication Pathogenic 812486 8:17928850-17928851 8:18071341-18071342
13 ASAH1 NM_177924.5(ASAH1):c.383-10_383-6delshort repeat Pathogenic 812484 8:17922046-17922050 8:18064537-18064541
14 ASAH1 NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp)SNV Pathogenic 94 rs137853596 8:17916933-17916933 8:18059424-18059424
15 ASAH1 NM_177924.5(ASAH1):c.544C>G (p.Leu182Val)SNV Pathogenic 95 rs137853597 8:17919892-17919892 8:18062383-18062383
16 ASAH1 NM_177924.5(ASAH1):c.917+4A>GSNV Pathogenic 55908 rs397509415 8:17917077-17917077 8:18059568-18059568
17 ASAH1 NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys)SNV Pathogenic 91 rs137853593 8:17919233-17919233 8:18061724-18061724
18 ASAH1 NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)SNV Likely pathogenic 92 rs137853594 8:17922010-17922010 8:18064501-18064501
19 ASAH1 NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)SNV Likely pathogenic 93 rs137853595 8:17933068-17933068 8:18075559-18075559
20 ASAH1 NM_177924.5(ASAH1):c.648+1G>CSNV Likely pathogenic 505533 rs1411267767 8:17919787-17919787 8:18062278-18062278
21 ASAH1 NM_177924.5(ASAH1):c.1098+1G>TSNV Likely pathogenic 812507 8:17916343-17916343 8:18058834-18058834
22 ASAH1 NM_177924.5(ASAH1):c.917+5G>ASNV Likely pathogenic 812506 8:17917076-17917076 8:18059567-18059567
23 ASAH1 NM_177924.5(ASAH1):c.704-2A>GSNV Likely pathogenic 812504 8:17918969-17918969 8:18061460-18061460
24 ASAH1 NM_177924.5(ASAH1):c.457+4A>GSNV Likely pathogenic 812501 8:17921962-17921962 8:18064453-18064453
25 ASAH1 NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe)SNV Likely pathogenic 812489 8:17933083-17933083 8:18075574-18075574
26 ASAH1 NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)SNV Likely pathogenic 812472 8:17927314-17927314 8:18069805-18069805
27 ASAH1 NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu)SNV Likely pathogenic 812474 8:17922015-17922015 8:18064506-18064506
28 ASAH1 NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)SNV Likely pathogenic 812503 8:17924797-17924797 8:18067288-18067288
29 ASAH1 NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)SNV Likely pathogenic 812496 8:17922011-17922011 8:18064502-18064502
30 ASAH1 NM_177924.5(ASAH1):c.593T>C (p.Val198Ala)SNV Likely pathogenic 812475 8:17919843-17919843 8:18062334-18062334
31 ASAH1 NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys)SNV Likely pathogenic 812483 8:17919898-17919898 8:18062389-18062389
32 ASAH1 NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro)SNV Likely pathogenic 812487 8:17919221-17919221 8:18061712-18061712
33 ASAH1 NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)SNV Likely pathogenic 812494 8:17916932-17916932 8:18059423-18059423
34 ASAH1 NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu)SNV Likely pathogenic 812493 8:17917165-17917165 8:18059656-18059656
35 ASAH1 NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro)SNV Likely pathogenic 812492 8:17918901-17918901 8:18061392-18061392
36 ASAH1 NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr)SNV Likely pathogenic 812491 8:17915056-17915056 8:18057547-18057547
37 ASAH1 NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)SNV Likely pathogenic 812479 8:17916346-17916346 8:18058837-18058837
38 ASAH1 NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr)SNV Likely pathogenic 812488 8:17916358-17916358 8:18058849-18058849
39 ASAH1 NM_177924.5(ASAH1):c.998G>A (p.Arg333His)SNV Likely pathogenic 812497 8:17916893-17916893 8:18059384-18059384
40 ASAH1 NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)SNV Likely pathogenic 812490 8:17916894-17916894 8:18059385-18059385
41 ASAH1 NM_177924.5(ASAH1):c.382+10A>GSNV Conflicting interpretations of pathogenicity 772332 8:17924719-17924719 8:18067210-18067210
42 ASAH1 NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)SNV Conflicting interpretations of pathogenicity 585439 rs543697946 8:17916894-17916894 8:18059385-18059385
43 ASAH1 NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)SNV Conflicting interpretations of pathogenicity 691802 8:17916887-17916887 8:18059378-18059378
44 ASAH1 NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)SNV Conflicting interpretations of pathogenicity 692296 8:17933087-17933087 8:18075578-18075578
45 ASAH1 NM_177924.5(ASAH1):c.457+7G>ASNV Conflicting interpretations of pathogenicity 362379 rs189892461 8:17921959-17921959 8:18064450-18064450
46 ASAH1 NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp)SNV Conflicting interpretations of pathogenicity 362375 rs886062781 8:17918967-17918967 8:18061458-18061458
47 ASAH1 NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)SNV Conflicting interpretations of pathogenicity 362376 rs141068211 8:17919807-17919807 8:18062298-18062298
48 ASAH1 NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)SNV Uncertain significance 362377 rs150268016 8:17919816-17919816 8:18062307-18062307
49 ASAH1 NM_177924.5(ASAH1):c.382+9C>GSNV Uncertain significance 362380 rs371977439 8:17924720-17924720 8:18067211-18067211
50 ASAH1 NM_177924.5(ASAH1):c.183A>G (p.Arg61=)SNV Uncertain significance 362384 rs559209309 8:17928842-17928842 8:18071333-18071333

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
13.86 UGCG SMPD3 SMPD2 SMPD1 PSAP GM2A
2
Show member pathways
11.87 UGCG SMPD3 SMPD2 SMPD1 PSAP GM2A
3
Show member pathways
11.85 SMPD3 SMPD2 SMPD1
4 11.81 SMPD1 SLC17A5 PSAP GM2A GALC ASAH1
5
Show member pathways
11.8 SMPD3 SMPD2 SMPD1
6 11.78 SMPD3 SMPD2 SMPD1 ASAH2 ASAH1 ACER1
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 SLC17A5 CERS1
2 integral component of membrane GO:0016021 9.93 UGCG SMPD3 SMPD2 SMPD1 SLC17A5 CERS1
3 Golgi apparatus GO:0005794 9.8 UGCG SMPD3 ASAH2 AP3M2 ACER3 ACER2
4 Golgi membrane GO:0000139 9.65 UGCG SMPD3 ASAH2 ACER3 ACER2
5 lysosome GO:0005764 9.43 SMPD1 SLC17A5 PSAP 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 16)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.03 UGCG SMPD3 SMPD2 PSAP GM2A GALC
2 ceramide biosynthetic process GO:0046513 9.8 SMPD2 SMPD1 CERS1 ASAH2 ASAH1
3 sphingolipid biosynthetic process GO:0030148 9.78 CERS1 ACER3 ACER2 ACER1
4 sphingosine biosynthetic process GO:0046512 9.77 ASAH2 ASAH1 ACER3 ACER2 ACER1
5 ceramide metabolic process GO:0006672 9.76 SMPD3 SMPD1 PSAP CERK ASAH2 ACER3
6 myelination GO:0042552 9.72 PSAP GALC ACER3
7 ceramide catabolic process GO:0046514 9.72 ASAH2 ASAH1 ACER3 ACER2 ACER1
8 keratinocyte differentiation GO:0030216 9.71 UGCG ASAH1 ACER1
9 sphingomyelin catabolic process GO:0006685 9.63 SMPD3 SMPD2 SMPD1
10 sphingomyelin metabolic process GO:0006684 9.61 SMPD3 SMPD2 SMPD1
11 glycosphingolipid metabolic process GO:0006687 9.61 UGCG SMPD3 SMPD2 SMPD1 PSAP GM2A
12 positive regulation of ceramide biosynthetic process GO:2000304 9.56 SMPD3 SMPD2
13 cornified envelope assembly GO:1903575 9.52 UGCG PSAP
14 positive regulation of hydrolase activity GO:0051345 9.51 PSAP GM2A
15 galactosylceramide catabolic process GO:0006683 9.49 PSAP GALC
16 sphingolipid metabolic process GO:0006665 9.44 UGCG SMPD3 SMPD2 PSAP GM2A GALC

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 dihydroceramidase activity GO:0071633 9.46 ASAH2 ACER3 ACER2 ACER1
5 phytoceramidase activity GO:0070774 9.4 ASAH2 ACER3
6 N-acylsphingosine amidohydrolase activity GO:0017040 9.35 ASAH2 ASAH1 ACER3 ACER2 ACER1
7 ceramidase activity GO:0102121 9.02 ASAH2 ASAH1 ACER3 ACER2 ACER1

Sources for Farber Lipogranulomatosis

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