MCID: LPG001
MIFTS: 28

Lipogranulomatosis

Categories: Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lipogranulomatosis

MalaCards integrated aliases for Lipogranulomatosis:

Name: Lipogranulomatosis 19 75 53
Erdheim-Chester Disease 71
Lipogranuloma 71

Classifications:



External Ids:

UMLS 71 C0878675 C1704214

Summaries for Lipogranulomatosis

MalaCards based summary: Lipogranulomatosis, also known as erdheim-chester disease, is related to farber lipogranulomatosis and asah1-related disorders. An important gene associated with Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Sphingolipid metabolism and S-1P Stimulated Signaling. The drugs Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone marrow and lymph node.

Wikipedia: 75 Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency,... more...

Related Diseases for Lipogranulomatosis

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 farber lipogranulomatosis 32.4 ASAH2 ASAH1
2 asah1-related disorders 10.4
3 panniculitis 10.1
4 lipid metabolism disorder 10.1
5 lysosomal storage disease 10.1
6 juvenile rheumatoid arthritis 10.1
7 lipomatosis, multiple 9.9
8 glycoprotein storage disease 9.9
9 hydrops fetalis, nonimmune 9.9
10 mental retardation, skeletal dysplasia, and abducens palsy 9.9
11 cholangitis, primary sclerosing 9.9
12 deficiency anemia 9.9
13 hepatic veno-occlusive disease 9.9
14 disseminated intravascular coagulation 9.9
15 microcytic anemia 9.9
16 cholestasis 9.9
17 obstructive jaundice 9.9
18 sclerosing cholangitis 9.9
19 granulomatous hepatitis 9.9
20 acute pancreatitis 9.9
21 facial dermatosis 9.9
22 skin disease 9.9
23 pancreatitis 9.9
24 hypersplenism 9.9
25 peritonitis 9.9
26 whipple disease 9.9
27 crohn's disease 9.9
28 intermediate coronary syndrome 9.9
29 cholangitis 9.9
30 pathologic nystagmus 9.9
31 hypereosinophilic syndrome 9.9
32 pityriasis lichenoides 9.9
33 pityriasis lichenoides et varioliformis acuta 9.9
34 igg4-related mesenteritis 9.9
35 granuloma faciale 9.9
36 spinal muscular atrophy with progressive myoclonic epilepsy 9.7 ASAH2 ASAH1
37 hereditary sensory and autonomic neuropathy type 1 9.7 ASAH2 ASAH1
38 sphingolipidosis 9.7 ASAH2 ASAH1
39 intracranial berry aneurysm 9.6 ASAH2 ASAH1
40 gaucher's disease 9.6 ASAH2 ASAH1
41 niemann-pick disease 9.5 ASAH2 ASAH1

Graphical network of the top 20 diseases related to Lipogranulomatosis:



Diseases related to Lipogranulomatosis

Symptoms & Phenotypes for Lipogranulomatosis

Drugs & Therapeutics for Lipogranulomatosis

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 2
3 Immunologic Factors Phase 2
4
Cetuximab Approved Phase 1 205923-56-4
5
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
6
Bevacizumab Approved, Investigational Phase 1 216974-75-3 135329020
7
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030
8
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
9
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
10 Mitogens Phase 1
11 Neurotransmitter Agents Phase 1
12 Immunoglobulins, Intravenous Phase 1
13 Anti-Bacterial Agents Phase 1
14 Anti-Infective Agents Phase 1
15 Immunoglobulins Phase 1
16 Immunoglobulin G Phase 1
17 Antifungal Agents Phase 1
18 Psychotropic Drugs Phase 1
19 Anticonvulsants Phase 1
20 Antibodies, Monoclonal Phase 1
21 Antibodies Phase 1
22 Antibiotics, Antitubercular Phase 1
23 Immunosuppressive Agents Phase 1
24 Antineoplastic Agents, Immunological Phase 1
25 Endothelial Growth Factors Phase 1
26
Vemurafenib Approved 918504-65-1 42611257
27
Choline Approved, Nutraceutical 62-49-7 305
28 Antimetabolites
29 Hypolipidemic Agents
30 Nootropic Agents
31 Lipid Regulating Agents
32 Gastrointestinal Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease Completed NCT02281760 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
2 A Single-arm, Open Label, Multicenter Phase II Clinical Study in Rare Diseases to Evaluate Safety, Efficacy and PK of HLX208 for Adult Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease (ECD) With BRAF V600E Mutation Recruiting NCT05092815 Phase 2 HLX208
3 A First-in-Human, Open Label, Phase I/II Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patients With Advanced Tumors Recruiting NCT04198818 Phase 1, Phase 2 HH2710
4 A Phase 2 Study to Assess the Safety and Efficacy of Cobimetinib in Refractory Langerhans Cell Histiocytosis, LCH-Associated Neurodegenerative Disease, and Other Histiocytic Disorders. Recruiting NCT04079179 Phase 2 Cobimetinib
5 A Phase II Study of Lenalidomide for Adult Histiocyte Disorders Active, not recruiting NCT02523040 Phase 2 Lenalidomide
6 Open-label, Single-arm, Phase II, Prospective, Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease Terminated NCT01727206 Phase 2 Tocilizumab
7 A Phase II Therapeutic Trial of the Use of Dabrafenib and Trametinib in Patients With BRAF V600 Mutation Positive Lesions in Erdheim Chester Disease Withdrawn NCT03794297 Phase 2 Dabrafenib Mesylate;Trametinib Dimethyl Sulfoxide
8 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Active, not recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
9 Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease Unknown status NCT02089724
10 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Completed NCT03233841
11 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
12 Pilot Study to Determine Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement Completed NCT02608619
13 Registry for Patients With Erdheim-Chester Disease and Other Histiocytoses Recruiting NCT03329274
14 A Study to Identify the Supportive Care Needs of Caregivers of Patients With Erdheim-Chester Disease and Other Histiocytic Diseases Recruiting NCT03990428
15 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
16 Biomarker for Farber Disease - An International, Multicenter, Epidemiological Protocol Active, not recruiting NCT02298634
17 A Clinical, Structural, and Functional Neuroimaging Study of Cognition in Adults With Erdheim-Chester Disease, Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Other Histiocytoses Active, not recruiting NCT03127709

Search NIH Clinical Center for Lipogranulomatosis

Genetic Tests for Lipogranulomatosis

Anatomical Context for Lipogranulomatosis

Organs/tissues related to Lipogranulomatosis:

MalaCards : Endothelial, Bone Marrow, Lymph Node, Breast, Bone, Heart, Spleen

Publications for Lipogranulomatosis

Articles related to Lipogranulomatosis:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Overexpression and mass spectrometry analysis of mature human acid ceramidase. 53 62
18020949 2007
2
Acid ceramidase is a novel factor required for early embryo survival. 53 62
17264167 2007
3
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. 53 62
9645089 1998
4
rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lipogranulomatosis. 62
35902747 2022
5
99mTc-MDP Bone Scintigraphy and SPECT/CT of Extensive Subcutaneous Calcification in the Setting of Cosmetic-Induced Lipogranulomatosis. 62
35006120 2022
6
Anaesthetic management of a child with Farber's lipogranulomatosis posted for exploratory laparotomy. 62
31772410 2019
7
Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum. 62
31022067 2019
8
Sclerosing lipogranulomatosis-induced chronic hypercalcemia and acute pancreatitis. 62
31312708 2019
9
Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. 62
27155573 2016
10
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 62
26526000 2015
11
The molecular medicine of acid ceramidase. 62
25938220 2015
12
Extensive facial sclerosing lipogranulomatosis as a complication of cosmetic acupuncture. 62
25768878 2015
13
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. 62
24355074 2014
14
Coelomic Granulomatous Fat Necrosis (Lipogranulomatosis) in an Umbrella Cockatoo (Cacatua alba). 62
25843325 2014
15
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. 62
23385296 2013
16
Lipogranulomatosis and hypersplenism induced by ruptured silicone breast implants. 62
24228267 2013
17
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene. 62
23707712 2013
18
Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation. 62
20609603 2011
19
A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease. 62
20871013 2010
20
[Difficulties in diagnosis and surgical treatment of a giant retroperitoneal lipoma]. 62
19601474 2009
21
Disseminated lipogranulomatosis. 62
19242039 2009
22
Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis. 62
18948786 2008
23
Diffuse lipogranulomatosis involving soft tissues of the head and neck due to multiple self-injections of mineral oil. 62
18617587 2008
24
[The cherry-red spot is an early sign of Farber's lipogranulomatosis]. 62
18589658 2008
25
Acid ceramidase and human disease. 62
17064658 2006
26
Periportal lymphadenopathy in patients without identifiable pancreatobiliary or hepatic malignancy. 62
17059897 2006
27
A case of Rothmann-Makai panniculitis successfully treated with tetracycline. 62
16681577 2006
28
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. 62
16951918 2006
29
KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. 62
16500425 2005
30
Laparoscopic management of a ruptured benign dermoid cyst during advanced pregnancy. 62
16036204 2005
31
Lipogranulomatous lymphadenopathy as a potential source of error in fine needle aspiration cytology. A case report. 62
12146051 2002
32
Factitious disease of the breast of a male due to injection of liquid plastic. 62
11903666 2001
33
[Lipogranulomatosis, Farber]. 62
11528644 2001
34
[Involvement of the facial skull in Erdheim-Chester disease]. 62
11883118 2001
35
[Bilateral sclerosing lipogranuloma of the gluteal region with calcification. Report of a clinical case and review of the literature]. 62
11037633 2000
36
[Farber disease: a cause of hoarseness of the voice in children]. 62
11233710 2000
37
Hydrops fetalis: lysosomal storage disorders in extremis. 62
10645471 1999
38
[Erdheim-Chester lipogranulomatosis with involvement of the breast]. 62
9589106 1998
39
A case of Farber lipogranulomatosis. 62
9539328 1998
40
Turnover of endogenous ceramide in cultured normal and Farber fibroblasts. 62
9458280 1997
41
First case of surgical treatment of Farber's disease. 62
9339283 1997
42
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. 62
9128814 1997
43
[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis]. 62
8650144 1996
44
Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case. 62
8892023 1996
45
Clofazimine in inflammatory facial dermatosis--granuloma faciale and lipogranulomatosis subcutanea (Rothmann-Makai) 62
8721503 1996
46
[Farber's lipogranulomatosis]. 62
8577050 1995
47
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. 62
8747852 1995
48
[Sclerosing lipogranulomatosis of the eyelids after ethmoid sinus surgery: a complication after ointment tamponade!]. 62
8018240 1994
49
The anesthetic implications of a patient with Farber's lipogranulomatosis. 62
8291711 1994
50
Sclerosing lipogranulomatosis: a case report of scrotal injection of automobile transmission fluid and literature review of subcutaneous injection of oils. 62
8430154 1993

Variations for Lipogranulomatosis

Expression for Lipogranulomatosis

Search GEO for disease gene expression data for Lipogranulomatosis.

Pathways for Lipogranulomatosis

Pathways related to Lipogranulomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.43 ASAH2 ASAH1
2 10.94 ASAH2 ASAH1
3
Show member pathways
10.3 ASAH2 ASAH1

GO Terms for Lipogranulomatosis

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

# Name GO ID Score Top Affiliating Genes
1 ceramide biosynthetic process GO:0046513 9.46 ASAH2 ASAH1
2 lipid metabolic process GO:0006629 9.32 ASAH2 ASAH1
3 sphingolipid metabolic process GO:0006665 9.26 ASAH2 ASAH1
4 sphingosine biosynthetic process GO:0046512 9.26 ASAH2 ASAH1
5 ceramide catabolic process GO:0046514 8.92 ASAH2 ASAH1

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

# Name GO ID Score Top Affiliating Genes
1 N-acylsphingosine amidohydrolase activity GO:0017040 9.26 ASAH2 ASAH1
2 ceramidase activity GO:0102121 8.92 ASAH1 ASAH2

Sources for 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
Content
Loading form....