FRBRL
MCID: FRB001
MIFTS: 53

Farber Lipogranulomatosis (FRBRL) malady

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

Aliases & Classifications for Farber Lipogranulomatosis

Aliases & Descriptions for Farber Lipogranulomatosis:

Name: Farber Lipogranulomatosis 54 12 50 24 25 56 66 13 42 14 69
Acid Ceramidase Deficiency 12 50 24 25 56 66
Farber Disease 12 50 24 25 56 66
Ceramidase Deficiency 50 25 51 66
N-Laurylsphingosine Deacylase Deficiency 12 50 66
Farber's Disease 50 25 51
Ac Deficiency 50 25 66
Farber's Lipogranulomatosis 25 29
Acylsphingosine Deacylase Deficiency 25
Farber-Uzman Syndrome 25
Frbrl 66

Characteristics:

Orphanet epidemiological data:

56
farber disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Europe); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood;

HPO:

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


Classifications:



External Ids:

OMIM 54 228000
Disease Ontology 12 DOID:0050464
MeSH 42 D055577
NCIt 47 C84710
SNOMED-CT 64 79935000
Orphanet 56 ORPHA333
UMLS via Orphanet 70 C2936785 C0268255
ICD10 via Orphanet 34 E75.2
MESH via Orphanet 43 C537075 D055577
MedGen 40 C0268255
UMLS 69 C0268255

Summaries for Farber Lipogranulomatosis

NINDS : 51 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 is typically seen 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.  Affected persons may require the insertion of 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.

MalaCards based summary : Farber Lipogranulomatosis, also known as acid ceramidase deficiency, is related to lipogranulomatosis and arthritis, and has symptoms including arthralgia, joint swelling and joint stiffness. An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Sphingolipid signaling pathway. The drugs Bortezomib and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and spleen.

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.

NIH Rare Diseases : 50 farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). people with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. researchers have described seven types of farber's disease based on their characteristic features. this condition is caused by mutations in the asah1 gene and is inherited in an autosomal recessive manner.       last updated: 10/8/2014

OMIM : 54 Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset... (228000) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 all 12)
id Related Disease Score Top Affiliating Genes
1 lipogranulomatosis 10.4
2 arthritis 10.0
3 obstructive jaundice 10.0
4 spinal muscular atrophy 9.9
5 muscular atrophy 9.9
6 epileptic encephalopathy, early infantile, 9 9.8 NAGA PSAP
7 metachromatic leukodystrophy 9.8
8 leukodystrophy 9.8
9 malignant fibrous histiocytoma of bone 9.8 NAGA PSAP
10 nasopharyngeal carcinoma 2 9.7 NAGA PSAP
11 lockwood feingold syndrome 9.3 ACER3 ASAH1 CLCA4 NAGA PSAP
12 deafness, autosomal recessive 71 9.1 ACER3 ASAH1 CERS1 CLCA4 NAGA PSAP

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



Diseases related to Farber Lipogranulomatosis

Symptoms & Phenotypes for Farber Lipogranulomatosis

Symptoms by clinical synopsis from OMIM:

228000

Clinical features from OMIM:

228000

Human phenotypes related to Farber Lipogranulomatosis:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 joint swelling 56 32 Very frequent (99-80%) HP:0001386
3 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
4 nystagmus 56 32 Frequent (79-30%) HP:0000639
5 intellectual disability 56 32 Occasional (29-5%) HP:0001249
6 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
7 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
8 kyphosis 56 32 Frequent (79-30%) HP:0002808
9 global developmental delay 56 32 Occasional (29-5%) HP:0001263
10 splenomegaly 56 32 Occasional (29-5%) HP:0001744
11 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
12 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
13 corneal opacity 56 32 Occasional (29-5%) HP:0007957
14 short stature 56 32 Very frequent (99-80%) HP:0004322
15 abnormality of vision 56 32 Occasional (29-5%) HP:0000504
16 osteoporosis 56 32 Frequent (79-30%) HP:0000939
17 laryngomalacia 56 32 Very frequent (99-80%) HP:0001601
18 hoarse cry 56 32 Frequent (79-30%) HP:0001615
19 pulmonary fibrosis 56 32 Occasional (29-5%) HP:0002206
20 decreased muscle mass 56 32 Frequent (79-30%) HP:0003199
21 periarticular subcutaneous nodules 56 32 Very frequent (99-80%) HP:0007470
22 cherry red spot of the macula 56 32 Occasional (29-5%) HP:0010729
23 arthritis 32 HP:0001369
24 abnormality of the eye 56 Occasional (29-5%)
25 subcutaneous nodule 56 Frequent (79-30%)
26 irritability 32 HP:0000737
27 motor delay 32 HP:0001270
28 lipogranulomatosis 32 HP:0040139

UMLS symptoms related to Farber Lipogranulomatosis:


painful swollen joints

Drugs & Therapeutics for Farber Lipogranulomatosis

Drugs for Farber Lipogranulomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 694)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bortezomib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 179324-69-7 387447 93860
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-02-2 5743
3
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
4
Zoledronic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 118072-93-8 68740
5
Panobinostat Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 404950-80-7 6918837
6
Sorafenib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 284461-73-0 216239 406563
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
9
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
10
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936
11 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
13 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 BB 1101 Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Dexamethasone 21-phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Dexamethasone acetate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1177-87-3
18 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1
27 Diuretics, Potassium Sparing Phase 4
28 Sodium Channel Blockers Phase 4
29 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Diphosphonates Phase 4,Phase 3,Phase 2,Phase 1
31 Histone Deacetylase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
32 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Mineralocorticoids Phase 4,Phase 3,Phase 2
35 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1
37 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 diuretics Phase 4
40 Mineralocorticoid Receptor Antagonists Phase 4
41 Natriuretic Agents Phase 4
42 Natriuretic Peptide, Brain Phase 4
43 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
44 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
45 Vitamin B3 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
46
Asparaginase Approved Phase 3,Phase 2,Phase 1,Early Phase 1 9015-68-3
47
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
48
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
49
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
50
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462

Interventional clinical trials:

(show top 50) (show all 2083)
id Name Status NCT ID Phase
1 Study of Ranolazine in the Treatment of Pulmonary Hypertension Associated With Diastolic Left Ventricular Dysfunction Completed NCT02133352 Phase 4
2 Zoledronic Acid Treatment (Every 4 or 12 Weeks) to Prevent Skeletal Complications in Advanced Multiple Myeloma Patients Completed NCT00622505 Phase 4
3 CMR Rate of Newly Diagnosed CML-CP Patients Treated With Nilotinib Completed NCT01227577 Phase 4
4 Efficacy of Panobinostat in Patients With Relapsed and Bortezomib-refractory Multiple Myeloma Completed NCT01083602 Phase 4
5 An Extension (Rollover) Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Malignancies Previously Enrolled in an Antecedent Vemurafenib Protocol Recruiting NCT01739764 Phase 4
6 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study Recruiting NCT02253394 Phase 4
7 HCV-RNA Kinetics During Sorafenib for Hepatocellular Carcinoma (HCC) Terminated NCT01849588 Phase 4
8 Community Interventions in Non-Medical Settings to Increase Informed Decision Making for Prostate Cancer Screening Unknown status NCT00207636 Phase 3
9 Evaluation of 3APS in Patients With Mild to Moderate Alzheimer’s Disease Unknown status NCT00088673 Phase 3
10 Treatment of Acute Lymphoblastic Leukemia in Children Unknown status NCT00400946 Phase 3
11 Phase III Randomized Study of Amonafide (AS1413) and Cytarabine Versus Daunorubicin and Cytarabine in Patients With Secondary Acute Myeloid Leukemia (AML)- the ACCEDE Study Unknown status NCT00715637 Phase 3
12 Naloxone in Treating Constipation in Patients Who Are Receiving Opioids for Chronic Pain Unknown status NCT00020605 Phase 3
13 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation, Radiation Therapy, and/or Surgery in Treating Patients With Ewing's Sarcoma Unknown status NCT00020566 Phase 3
14 Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma Unknown status NCT00499616 Phase 3
15 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
16 Study of Complementary Therapies in Men Receiving Radiation Therapy for Prostate Cancer: A Feasibility Trial Unknown status NCT00207259 Phase 3
17 Methylprednisolone With or Without Daclizumab in Treating Patients With Acute Graft-Versus-Host Disease Completed NCT00053976 Phase 3
18 Combination Chemotherapy and Radiation in Treating Patients With Stage III or IV Head and Neck Cancer (Paradigm Trial) Completed NCT00095875 Phase 3
19 Tacrolimus/Sirolimus/Methotrexate Versus Tacrolimus/Methotrexate or Cyclosporine/Mycophenolate Mofetil for GVHD Prophylaxis After Reduced Intensity Allogeneic Stem Cell Transplantation for Patients With Lymphoma Completed NCT00928018 Phase 3
20 Defibrotide for the Treatment of Severe Hepatic Veno-Occlusive Disease in Hematopoetic Stem Cell Transplant Patients Completed NCT00358501 Phase 3
21 Defibrotide for Patients With Hepatic Veno-occlusive Disease: A Treatment IND Study Completed NCT00628498 Phase 3
22 Four Versus Six Cycles of Cyclophosphamide/Doxorubicin or Paclitaxel in Adjuvant Breast Cancer Completed NCT00041119 Phase 3
23 Trastuzumab in Combination With Vinorelbine or Taxane-Based Chemotherapy in Patients With Metastatic Breast Cancer Completed NCT00146549 Phase 3
24 Rosiglitazone (Avandia) vs. Placebo for Androgen Dependent Prostate Cancer Completed NCT00182052 Phase 3
25 Hydroxychloroquine in Treating Patients With Newly Diagnosed Chronic Graft-Versus-Host Disease Completed NCT00031824 Phase 3
26 Safety and Efficacy of Different Dose Levels of Pasireotide in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3
27 Recombinant Von Willebrand Factor in Subjects With Severe Von Willebrand Disease Undergoing Surgery Completed NCT02283268 Phase 3
28 Acute Graft-versus-Host Disease Treatment (BMT CTN 0802) Completed NCT01002742 Phase 3
29 S9415 Chemotherapy in Patients With Stage II or III Colon Cancer That Has Been Surgically Removed Completed NCT00002593 Phase 3
30 Combination Chemotherapy With or Without Dexrazoxane in Treating Children With Hodgkin's Disease Completed NCT00005578 Phase 3
31 Efficacy and Safety of Adult Human Mesenchymal Stem Cells to Treat Steroid Refractory Acute Graft Versus Host Disease Completed NCT00366145 Phase 3
32 A Study of PS-341 Given to Patients With Multiple Myeloma Who Experienced Progressive Disease After Receiving Dexamethasone in M34101-039 Completed NCT00063726 Phase 3
33 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
34 Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer Completed NCT00079274 Phase 3
35 Efficacy and Safety of Prochymal™ Infusion in Combination With Corticosteroids for the Treatment of Newly Diagnosed Acute GVHD Completed NCT00562497 Phase 3
36 Comparison of Fluconazole vs Voriconazole to Treat Fungal Infections for Blood and Marrow Transplants (BMT CTN 0101) Completed NCT00075803 Phase 3
37 Epoetin Alfa in Treating Anemia in Patients With Solid Tumors Completed NCT00058331 Phase 3
38 Sunitinib Malate or Sorafenib Tosylate in Treating Patients With Kidney Cancer That Was Removed By Surgery Completed NCT00326898 Phase 3
39 S0106 Cytarabine and Daunorubicin w/ or w/o Gemtuzumab Followed By HD Cytarabine and Either Gemtuzumab or Nothing in de Novo AML Completed NCT00085709 Phase 3
40 Paclitaxel in Treating Older Patients With Solid Tumors Completed NCT00003092 Phase 3
41 Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia Completed NCT00136084 Phase 3
42 Dasatinib and Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Completed NCT00720109 Phase 2, Phase 3
43 Study of Oral LBH589 in Adult Patients With Refractory Cutaneous T-Cell Lymphoma Completed NCT00425555 Phase 2, Phase 3
44 S0521, Combination Chemotherapy With or Without Gemtuzumab Followed By Tretinoin, Mercaptopurine, and Methotrexate or Observation in Treating Patients With Acute Promyelocytic Leukemia Completed NCT00492856 Phase 3
45 Radiation Therapy in Treating Patients With Metastases to the Lymph Nodes in the Neck From an Unknown Primary Tumor Completed NCT00047125 Phase 3
46 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3
47 Zoledronate in Preventing Skeletal (Bone)-Related Events in Men Who Are Receiving Androgen Deprivation Therapy For Prostate Cancer and Bone Metastases Completed NCT00079001 Phase 3
48 Provenge® (Sipuleucel-T) Active Cellular Immunotherapy Treatment of Metastatic Prostate Cancer After Failing Hormone Therapy Completed NCT00065442 Phase 3
49 Dacarbazine and Ipilimumab vs. Dacarbazine With Placebo in Untreated Unresectable Stage III or IV Melanoma Completed NCT00324155 Phase 3
50 Efficacy and Safety of Nilotinib (AMN107) Compared With Current Treatment Options in Patients With GIST Who Have Failed Both Imatinib and Sunitinib Completed NCT00471328 Phase 3

Search NIH Clinical Center for Farber Lipogranulomatosis

Cochrane evidence based reviews: farber lipogranulomatosis

Genetic Tests for Farber Lipogranulomatosis

Genetic tests related to Farber Lipogranulomatosis:

id Genetic test Affiliating Genes
1 Farber's Lipogranulomatosis 29
2 Farber Lipogranulomatosis 24 ASAH1

Anatomical Context for Farber Lipogranulomatosis

MalaCards organs/tissues related to Farber Lipogranulomatosis:

39
Liver, Skin, Spleen, Lung, Heart, Kidney, Lymph Node

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

id Title Authors Year
1
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. ( 23385296 )
2013
2
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. ( 24355074 )
2013
3
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. ( 20609603 )
2011
4
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. ( 16951918 )
2006
5
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. ( 9645089 )
1998
6
A case of Farber lipogranulomatosis. ( 9539328 )
1998
7
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. ( 8892023 )
1996
8
Farber lipogranulomatosis: an unusual presentation in a black child. ( 2854742 )
1986

Variations for Farber Lipogranulomatosis

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

66 (show all 13)
id 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 rs28934273
5 ASAH1 p.Gly235Arg VAR_021583
6 ASAH1 p.Arg254Gly VAR_021584
7 ASAH1 p.Asn320Asp VAR_021585 rs137853596
8 ASAH1 p.Pro362Arg VAR_021586
9 ASAH1 p.Gln22His VAR_038166
10 ASAH1 p.His23Asp VAR_038167
11 ASAH1 p.Leu182Val VAR_038169 rs137853597
12 ASAH1 p.Val97Gly VAR_071994
13 ASAH1 p.Gly168Trp VAR_071995

ClinVar genetic disease variations for Farber Lipogranulomatosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ASAH1 NM_004315.5(ASAH1): c.713C> A (p.Thr238Lys) single nucleotide variant Pathogenic rs137853593 GRCh37 Chromosome 8, 17919233: 17919233
2 ASAH1 NM_004315.5(ASAH1): c.461A> T (p.Glu154Val) single nucleotide variant Pathogenic rs137853594 GRCh37 Chromosome 8, 17922010: 17922010
3 ASAH1 NM_004315.5(ASAH1): c.155A> G (p.Tyr52Cys) single nucleotide variant Pathogenic rs137853595 GRCh37 Chromosome 8, 17933068: 17933068
4 ASAH1 NM_004315.5(ASAH1): c.1006A> G (p.Asn336Asp) single nucleotide variant Pathogenic rs137853596 GRCh37 Chromosome 8, 17916933: 17916933
5 ASAH1 NM_004315.5(ASAH1): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs137853597 GRCh37 Chromosome 8, 17919892: 17919892
6 ASAH1 NM_004315.5(ASAH1): c.965+4A> G single nucleotide variant Pathogenic rs397509415 GRCh37 Chromosome 8, 17917077: 17917077
7 ASAH1 NG_008985.1: g.14667_24138del9472 deletion Pathogenic GRCh37 Chromosome 8, 17923370: 17932841

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 ACER3 ASAH1 CERS1 PSAP
2 11.23 ASAH1 CERS1
3 11.22 ASAH1 NAGA PSAP

GO Terms for Farber Lipogranulomatosis

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

id Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 ASAH1 PSAP
2 lysosome GO:0005764 8.8 ASAH1 NAGA PSAP

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 ASAH1 CERS1 PSAP
2 glycosphingolipid metabolic process GO:0006687 9.16 ASAH1 PSAP
3 sphingolipid biosynthetic process GO:0030148 8.96 ACER3 CERS1
4 ceramide metabolic process GO:0006672 8.62 ACER3 ASAH1

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.26 ACER3 ASAH1 CLCA4 NAGA
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 8.62 ACER3 ASAH1

Sources for Farber Lipogranulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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