MCID: FRB001
MIFTS: 46

Farber Lipogranulomatosis

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

Aliases & Classifications for Farber Lipogranulomatosis

MalaCards integrated aliases for Farber Lipogranulomatosis:

Name: Farber Lipogranulomatosis 57 12 53 25 59 75 37 13 44 15 40 73
Farber Disease 57 12 53 25 59 75 29 6
Acid Ceramidase Deficiency 57 12 53 25 59 75
Ceramidase Deficiency 57 76 53 25 54 75
N-Laurylsphingosine Deacylase Deficiency 57 12 53 75
Farber's Disease 76 53 25 54
Ac Deficiency 57 53 25 75
Frbrl 57 75
Acylsphingosine Deacylase Deficiency 25
Farber's Lipogranulomatosis 25
Farber-Uzman Syndrome 25
Acy 76

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 228000
Disease Ontology 12 DOID:0050464
MeSH 44 D055577
NCIt 50 C84710
SNOMED-CT 68 79935000
Orphanet 59 ORPHA333
UMLS via Orphanet 74 C2936785 C0268255
ICD10 via Orphanet 34 E75.2
MESH via Orphanet 45 C537075 D055577
MedGen 42 C0268255
KEGG 37 H00138
UMLS 73 C0268255

Summaries for Farber Lipogranulomatosis

NINDS : 54 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.

MalaCards based summary : Farber Lipogranulomatosis, also known as farber disease, is related to cerebral amyloid angiopathy, cst3-related and lipogranulomatosis, 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 nystagmus and intellectual disability

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)

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.      

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.

Wikipedia : 76 Farber disease (also known as Farber\'s lipogranulomatosis, ceramidase deficiency, \"Fibrocytic... more...

Related Diseases for Farber Lipogranulomatosis

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



Diseases related to Farber Lipogranulomatosis

Symptoms & Phenotypes for Farber Lipogranulomatosis

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

AbdomenSpleen:
splenomegaly

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

Head And Neck Eyes:
macular cherry-red spots (in some patients)

Voice:
hoarse cry due to laryngeal involvement

Skeletal:
arthritis
painful swollen joints

Abdomen Liver:
hepatomegaly

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

Respiratory Larynx:
laryngeal nodules

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


Clinical features from OMIM:

228000

Human phenotypes related to Farber Lipogranulomatosis:

59 32 (showing 28, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
8 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
9 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
10 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
11 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
14 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
15 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
16 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
17 hoarse cry 59 32 frequent (33%) Frequent (79-30%) HP:0001615
18 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
19 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
20 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
21 periarticular subcutaneous nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0007470
22 cherry red spot of the macula 59 32 occasional (7.5%) Occasional (29-5%) HP:0010729
23 arthritis 32 HP:0001369
24 abnormality of the eye 59 Occasional (29-5%)
25 subcutaneous nodule 59 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

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Farber Disease Natural History Study Recruiting NCT03233841
2 Biomarker for Farber Disease 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:

41
Liver, Skin, Spleen, Lung, Kidney, Heart, Lymph Node

Publications for Farber Lipogranulomatosis

Articles related to Farber Lipogranulomatosis:

(showing 8, show less)
# Title Authors Year
1
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. ( 24355074 )
2013
2
Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis. ( 23385296 )
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
A case of Farber lipogranulomatosis. ( 9539328 )
1998
6
[Farber disease [Farber lipogranulomatosis], acid ceramidase deficiency]. ( 9645089 )
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:

75 (showing 13, show less)
# 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
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
(showing 122, show less)
# 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.713C> A (p.Thr238Lys) single nucleotide variant Pathogenic rs137853593 GRCh38 Chromosome 8, 18061724: 18061724
3 ASAH1 NM_004315.5(ASAH1): c.461A> T (p.Glu154Val) single nucleotide variant Pathogenic rs137853594 GRCh37 Chromosome 8, 17922010: 17922010
4 ASAH1 NM_004315.5(ASAH1): c.461A> T (p.Glu154Val) single nucleotide variant Pathogenic rs137853594 GRCh38 Chromosome 8, 18064501: 18064501
5 ASAH1 NM_004315.5(ASAH1): c.155A> G (p.Tyr52Cys) single nucleotide variant Pathogenic rs137853595 GRCh37 Chromosome 8, 17933068: 17933068
6 ASAH1 NM_004315.5(ASAH1): c.155A> G (p.Tyr52Cys) single nucleotide variant Pathogenic rs137853595 GRCh38 Chromosome 8, 18075559: 18075559
7 ASAH1 NM_004315.5(ASAH1): c.1006A> G (p.Asn336Asp) single nucleotide variant Pathogenic rs137853596 GRCh37 Chromosome 8, 17916933: 17916933
8 ASAH1 NM_004315.5(ASAH1): c.1006A> G (p.Asn336Asp) single nucleotide variant Pathogenic rs137853596 GRCh38 Chromosome 8, 18059424: 18059424
9 ASAH1 NM_004315.5(ASAH1): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs137853597 GRCh37 Chromosome 8, 17919892: 17919892
10 ASAH1 NM_004315.5(ASAH1): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs137853597 GRCh38 Chromosome 8, 18062383: 18062383
11 ASAH1 NM_004315.5(ASAH1): c.965+4A> G single nucleotide variant Pathogenic rs397509415 GRCh37 Chromosome 8, 17917077: 17917077
12 ASAH1 NM_004315.5(ASAH1): c.965+4A> G single nucleotide variant Pathogenic rs397509415 GRCh38 Chromosome 8, 18059568: 18059568
13 ASAH1 NG_008985.1: g.14667_24138del9472 deletion Pathogenic GRCh37 Chromosome 8, 17923370: 17932841
14 ASAH1 NG_008985.1: g.14667_24138del9472 deletion Pathogenic GRCh38 Chromosome 8, 18065861: 18075332
15 ASAH1 NM_004315.5(ASAH1): c.351+7G> A single nucleotide variant Benign rs4921834 GRCh37 Chromosome 8, 17927294: 17927294
16 ASAH1 NM_004315.5(ASAH1): c.351+7G> A single nucleotide variant Benign rs4921834 GRCh38 Chromosome 8, 18069785: 18069785
17 ASAH1 NM_004315.5(ASAH1): c.325A> G (p.Ile109Val) single nucleotide variant Benign rs1049874 GRCh37 Chromosome 8, 17927327: 17927327
18 ASAH1 NM_004315.5(ASAH1): c.325A> G (p.Ile109Val) single nucleotide variant Benign rs1049874 GRCh38 Chromosome 8, 18069818: 18069818
19 ASAH1 NM_004315.5(ASAH1): c.785T> C (p.Val262Ala) single nucleotide variant Benign rs10103355 GRCh38 Chromosome 8, 18061425: 18061425
20 ASAH1 NM_004315.5(ASAH1): c.785T> C (p.Val262Ala) single nucleotide variant Benign rs10103355 GRCh37 Chromosome 8, 17918934: 17918934
21 ASAH1 NM_004315.5(ASAH1): c.262G> A (p.Val88Met) single nucleotide variant Benign rs1071645 GRCh38 Chromosome 8, 18071302: 18071302
22 ASAH1 NM_004315.5(ASAH1): c.262G> A (p.Val88Met) single nucleotide variant Benign rs1071645 GRCh37 Chromosome 8, 17928811: 17928811
23 ASAH1 NM_004315.5(ASAH1): c.127-3C> T single nucleotide variant Likely benign rs35513736 GRCh37 Chromosome 8, 17933099: 17933099
24 ASAH1 NM_004315.5(ASAH1): c.127-3C> T single nucleotide variant Likely benign rs35513736 GRCh38 Chromosome 8, 18075590: 18075590
25 ASAH1 NM_177924.4(ASAH1): c.*695C> T single nucleotide variant Likely benign rs403910 GRCh37 Chromosome 8, 17914348: 17914348
26 ASAH1 NM_177924.4(ASAH1): c.*695C> T single nucleotide variant Likely benign rs403910 GRCh38 Chromosome 8, 18056839: 18056839
27 ASAH1 NM_177924.4(ASAH1): c.*687C> G single nucleotide variant Benign rs6771 GRCh38 Chromosome 8, 18056847: 18056847
28 ASAH1 NM_177924.4(ASAH1): c.*687C> G single nucleotide variant Benign rs6771 GRCh37 Chromosome 8, 17914356: 17914356
29 ASAH1 NM_177924.4(ASAH1): c.*686T> C single nucleotide variant Uncertain significance rs886062777 GRCh38 Chromosome 8, 18056848: 18056848
30 ASAH1 NM_177924.4(ASAH1): c.*686T> C single nucleotide variant Uncertain significance rs886062777 GRCh37 Chromosome 8, 17914357: 17914357
31 ASAH1 NM_177924.4(ASAH1): c.*244C> T single nucleotide variant Likely benign rs405308 GRCh38 Chromosome 8, 18057290: 18057290
32 ASAH1 NM_177924.4(ASAH1): c.*244C> T single nucleotide variant Likely benign rs405308 GRCh37 Chromosome 8, 17914799: 17914799
33 ASAH1 NM_177924.4(ASAH1): c.*184T> A single nucleotide variant Likely benign rs574114 GRCh38 Chromosome 8, 18057350: 18057350
34 ASAH1 NM_177924.4(ASAH1): c.*184T> A single nucleotide variant Likely benign rs574114 GRCh37 Chromosome 8, 17914859: 17914859
35 ASAH1 NM_177924.4(ASAH1): c.*176_*177delCT deletion Uncertain significance rs374131883 GRCh38 Chromosome 8, 18057357: 18057358
36 ASAH1 NM_177924.4(ASAH1): c.*176_*177delCT deletion Uncertain significance rs374131883 GRCh37 Chromosome 8, 17914866: 17914867
37 ASAH1 NM_177924.4(ASAH1): c.*160T> C single nucleotide variant Likely benign rs574774 GRCh37 Chromosome 8, 17914883: 17914883
38 ASAH1 NM_177924.4(ASAH1): c.*160T> C single nucleotide variant Likely benign rs574774 GRCh38 Chromosome 8, 18057374: 18057374
39 ASAH1 NM_177924.4(ASAH1): c.*124T> A single nucleotide variant Benign rs417661 GRCh37 Chromosome 8, 17914919: 17914919
40 ASAH1 NM_177924.4(ASAH1): c.*124T> A single nucleotide variant Benign rs417661 GRCh38 Chromosome 8, 18057410: 18057410
41 ASAH1 NM_177924.4(ASAH1): c.457+7G> A single nucleotide variant Uncertain significance rs189892461 GRCh37 Chromosome 8, 17921959: 17921959
42 ASAH1 NM_177924.4(ASAH1): c.457+7G> A single nucleotide variant Uncertain significance rs189892461 GRCh38 Chromosome 8, 18064450: 18064450
43 ASAH1 NM_177924.4(ASAH1): c.372T> A (p.Asp124Glu) single nucleotide variant Benign/Likely benign rs2472205 GRCh37 Chromosome 8, 17924739: 17924739
44 ASAH1 NM_177924.4(ASAH1): c.372T> A (p.Asp124Glu) single nucleotide variant Benign/Likely benign rs2472205 GRCh38 Chromosome 8, 18067230: 18067230
45 ASAH1 NM_177924.4(ASAH1): c.361G> A (p.Ala121Thr) single nucleotide variant Uncertain significance rs146531900 GRCh37 Chromosome 8, 17924750: 17924750
46 ASAH1 NM_177924.4(ASAH1): c.361G> A (p.Ala121Thr) single nucleotide variant Uncertain significance rs146531900 GRCh38 Chromosome 8, 18067241: 18067241
47 ASAH1 NM_177924.4(ASAH1): c.262G> A (p.Val88Met) single nucleotide variant Uncertain significance rs368365768 GRCh37 Chromosome 8, 17927342: 17927342
48 ASAH1 NM_177924.4(ASAH1): c.262G> A (p.Val88Met) single nucleotide variant Uncertain significance rs368365768 GRCh38 Chromosome 8, 18069833: 18069833
49 ASAH1 NM_177924.4(ASAH1): c.-6A> G single nucleotide variant Uncertain significance rs200503438 GRCh37 Chromosome 8, 17941573: 17941573
50 ASAH1 NM_177924.4(ASAH1): c.-6A> G single nucleotide variant Uncertain significance rs200503438 GRCh38 Chromosome 8, 18084064: 18084064
51 ASAH1 NM_177924.4(ASAH1): c.-38C> T single nucleotide variant Uncertain significance rs201935182 GRCh37 Chromosome 8, 17941605: 17941605
52 ASAH1 NM_177924.4(ASAH1): c.-38C> T single nucleotide variant Uncertain significance rs201935182 GRCh38 Chromosome 8, 18084096: 18084096
53 ASAH1 NM_177924.4(ASAH1): c.*164T> A single nucleotide variant Uncertain significance rs886062780 GRCh37 Chromosome 8, 17914879: 17914879
54 ASAH1 NM_177924.4(ASAH1): c.-2C> G single nucleotide variant Uncertain significance rs371791165 GRCh38 Chromosome 8, 18084060: 18084060
55 ASAH1 NM_177924.4(ASAH1): c.*164T> A single nucleotide variant Uncertain significance rs886062780 GRCh38 Chromosome 8, 18057370: 18057370
56 ASAH1 NM_177924.4(ASAH1): c.*1103C> T single nucleotide variant Benign rs28393365 GRCh37 Chromosome 8, 17913940: 17913940
57 ASAH1 NM_177924.4(ASAH1): c.*1103C> T single nucleotide variant Benign rs28393365 GRCh38 Chromosome 8, 18056431: 18056431
58 ASAH1 NM_177924.4(ASAH1): c.*334G> A single nucleotide variant Likely benign rs115127411 GRCh37 Chromosome 8, 17914709: 17914709
59 ASAH1 NM_177924.4(ASAH1): c.*961A> G single nucleotide variant Uncertain significance rs553021299 GRCh37 Chromosome 8, 17914082: 17914082
60 ASAH1 NM_177924.4(ASAH1): c.*961A> G single nucleotide variant Uncertain significance rs553021299 GRCh38 Chromosome 8, 18056573: 18056573
61 ASAH1 NM_177924.4(ASAH1): c.*932C> T single nucleotide variant Likely benign rs7002731 GRCh37 Chromosome 8, 17914111: 17914111
62 ASAH1 NM_177924.4(ASAH1): c.*932C> T single nucleotide variant Likely benign rs7002731 GRCh38 Chromosome 8, 18056602: 18056602
63 ASAH1 NM_177924.4(ASAH1): c.*926A> C single nucleotide variant Benign rs3810 GRCh37 Chromosome 8, 17914117: 17914117
64 ASAH1 NM_177924.4(ASAH1): c.*926A> C single nucleotide variant Benign rs3810 GRCh38 Chromosome 8, 18056608: 18056608
65 ASAH1 NM_177924.4(ASAH1): c.*334G> A single nucleotide variant Likely benign rs115127411 GRCh38 Chromosome 8, 18057200: 18057200
66 ASAH1 NM_177924.4(ASAH1): c.-2C> G single nucleotide variant Uncertain significance rs371791165 GRCh37 Chromosome 8, 17941569: 17941569
67 ASAH1 NM_177924.4(ASAH1): c.-101G> A single nucleotide variant Uncertain significance rs139001299 GRCh37 Chromosome 8, 17941668: 17941668
68 ASAH1 NM_177924.4(ASAH1): c.-101G> A single nucleotide variant Uncertain significance rs139001299 GRCh38 Chromosome 8, 18084159: 18084159
69 ASAH1 NM_177924.4(ASAH1): c.-227T> G single nucleotide variant Likely benign rs34466559 GRCh37 Chromosome 8, 17941794: 17941794
70 ASAH1 NM_177924.4(ASAH1): c.-227T> G single nucleotide variant Likely benign rs34466559 GRCh38 Chromosome 8, 18084285: 18084285
71 ASAH1 NM_177924.4(ASAH1): c.-238C> T single nucleotide variant Likely benign rs35425490 GRCh37 Chromosome 8, 17941805: 17941805
72 ASAH1 NM_177924.4(ASAH1): c.-238C> T single nucleotide variant Likely benign rs35425490 GRCh38 Chromosome 8, 18084296: 18084296
73 ASAH1 NM_177924.4(ASAH1): c.*1073C> T single nucleotide variant Benign rs7508 GRCh37 Chromosome 8, 17913970: 17913970
74 ASAH1 NM_177924.4(ASAH1): c.*1073C> T single nucleotide variant Benign rs7508 GRCh38 Chromosome 8, 18056461: 18056461
75 ASAH1 NM_177924.4(ASAH1): c.*933T> C single nucleotide variant Uncertain significance rs886062776 GRCh37 Chromosome 8, 17914110: 17914110
76 ASAH1 NM_177924.4(ASAH1): c.*933T> C single nucleotide variant Uncertain significance rs886062776 GRCh38 Chromosome 8, 18056601: 18056601
77 ASAH1 NM_177924.4(ASAH1): c.*368C> T single nucleotide variant Uncertain significance rs17126181 GRCh38 Chromosome 8, 18057166: 18057166
78 ASAH1 NM_177924.4(ASAH1): c.*368C> T single nucleotide variant Uncertain significance rs17126181 GRCh37 Chromosome 8, 17914675: 17914675
79 ASAH1 NM_177924.4(ASAH1): c.*356C> G single nucleotide variant Uncertain significance rs141443856 GRCh38 Chromosome 8, 18057178: 18057178
80 ASAH1 NM_177924.4(ASAH1): c.*356C> G single nucleotide variant Uncertain significance rs141443856 GRCh37 Chromosome 8, 17914687: 17914687
81 ASAH1 NM_177924.4(ASAH1): c.*178A> G single nucleotide variant Uncertain significance rs886062779 GRCh38 Chromosome 8, 18057356: 18057356
82 ASAH1 NM_177924.4(ASAH1): c.*178A> G single nucleotide variant Uncertain significance rs886062779 GRCh37 Chromosome 8, 17914865: 17914865
83 ASAH1 NM_177924.4(ASAH1): c.704G> A (p.Gly235Asp) single nucleotide variant Uncertain significance rs886062781 GRCh37 Chromosome 8, 17918967: 17918967
84 ASAH1 NM_177924.4(ASAH1): c.704G> A (p.Gly235Asp) single nucleotide variant Uncertain significance rs886062781 GRCh38 Chromosome 8, 18061458: 18061458
85 ASAH1 NM_177924.4(ASAH1): c.629T> C (p.Met210Thr) single nucleotide variant Uncertain significance rs141068211 GRCh37 Chromosome 8, 17919807: 17919807
86 ASAH1 NM_177924.4(ASAH1): c.629T> C (p.Met210Thr) single nucleotide variant Uncertain significance rs141068211 GRCh38 Chromosome 8, 18062298: 18062298
87 ASAH1 NM_177924.4(ASAH1): c.620A> T (p.Tyr207Phe) single nucleotide variant Uncertain significance rs150268016 GRCh37 Chromosome 8, 17919816: 17919816
88 ASAH1 NM_177924.4(ASAH1): c.620A> T (p.Tyr207Phe) single nucleotide variant Uncertain significance rs150268016 GRCh38 Chromosome 8, 18062307: 18062307
89 ASAH1 NM_177924.4(ASAH1): c.382+9C> G single nucleotide variant Uncertain significance rs371977439 GRCh37 Chromosome 8, 17924720: 17924720
90 ASAH1 NM_177924.4(ASAH1): c.382+9C> G single nucleotide variant Uncertain significance rs371977439 GRCh38 Chromosome 8, 18067211: 18067211
91 ASAH1 NM_177924.4(ASAH1): c.183A> G (p.Arg61=) single nucleotide variant Uncertain significance rs559209309 GRCh37 Chromosome 8, 17928842: 17928842
92 ASAH1 NM_177924.4(ASAH1): c.183A> G (p.Arg61=) single nucleotide variant Uncertain significance rs559209309 GRCh38 Chromosome 8, 18071333: 18071333
93 ASAH1 NM_177924.4(ASAH1): c.-27C> T single nucleotide variant Uncertain significance rs371756048 GRCh37 Chromosome 8, 17941594: 17941594
94 ASAH1 NM_177924.4(ASAH1): c.-27C> T single nucleotide variant Uncertain significance rs371756048 GRCh38 Chromosome 8, 18084085: 18084085
95 ASAH1 NM_177924.4(ASAH1): c.-104C> G single nucleotide variant Uncertain significance rs546277660 GRCh37 Chromosome 8, 17941671: 17941671
96 ASAH1 NM_177924.4(ASAH1): c.-104C> G single nucleotide variant Uncertain significance rs546277660 GRCh38 Chromosome 8, 18084162: 18084162
97 ASAH1 NM_177924.4(ASAH1): c.-175A> T single nucleotide variant Uncertain significance rs549133239 GRCh37 Chromosome 8, 17941742: 17941742
98 ASAH1 NM_177924.4(ASAH1): c.-175A> T single nucleotide variant Uncertain significance rs549133239 GRCh38 Chromosome 8, 18084233: 18084233
99 ASAH1 NM_177924.4(ASAH1): c.-247C> G single nucleotide variant Uncertain significance rs886062782 GRCh37 Chromosome 8, 17941814: 17941814
100 ASAH1 NM_177924.4(ASAH1): c.-247C> G single nucleotide variant Uncertain significance rs886062782 GRCh38 Chromosome 8, 18084305: 18084305
101 ASAH1 NM_177924.4(ASAH1): c.*738C> G single nucleotide variant Benign rs6769 GRCh37 Chromosome 8, 17914305: 17914305
102 ASAH1 NM_177924.4(ASAH1): c.*738C> G single nucleotide variant Benign rs6769 GRCh38 Chromosome 8, 18056796: 18056796
103 ASAH1 NM_177924.4(ASAH1): c.*729T> C single nucleotide variant Benign rs6770 GRCh37 Chromosome 8, 17914314: 17914314
104 ASAH1 NM_177924.4(ASAH1): c.*729T> C single nucleotide variant Benign rs6770 GRCh38 Chromosome 8, 18056805: 18056805
105 ASAH1 NM_177924.4(ASAH1): c.*708_*711delGAAG deletion Benign rs35838806 GRCh37 Chromosome 8, 17914332: 17914335
106 ASAH1 NM_177924.4(ASAH1): c.*708_*711delGAAG deletion Benign rs35838806 GRCh38 Chromosome 8, 18056823: 18056826
107 ASAH1 NM_177924.4(ASAH1): c.*501T> C single nucleotide variant Uncertain significance rs886062778 GRCh38 Chromosome 8, 18057033: 18057033
108 ASAH1 NM_177924.4(ASAH1): c.*501T> C single nucleotide variant Uncertain significance rs886062778 GRCh37 Chromosome 8, 17914542: 17914542
109 ASAH1 NM_177924.4(ASAH1): c.*200C> T single nucleotide variant Likely benign rs71526182 GRCh37 Chromosome 8, 17914843: 17914843
110 ASAH1 NM_177924.4(ASAH1): c.*200C> T single nucleotide variant Likely benign rs71526182 GRCh38 Chromosome 8, 18057334: 18057334
111 ASAH1 NM_177924.4(ASAH1): c.1105G> A (p.Val369Ile) single nucleotide variant Benign/Likely benign rs17636067 GRCh37 Chromosome 8, 17915126: 17915126
112 ASAH1 NM_177924.4(ASAH1): c.1105G> A (p.Val369Ile) single nucleotide variant Benign/Likely benign rs17636067 GRCh38 Chromosome 8, 18057617: 18057617
113 ASAH1 NM_177924.4(ASAH1): c.910G> C (p.Val304Leu) single nucleotide variant Uncertain significance rs78267388 GRCh37 Chromosome 8, 17917088: 17917088
114 ASAH1 NM_177924.4(ASAH1): c.910G> C (p.Val304Leu) single nucleotide variant Uncertain significance rs78267388 GRCh38 Chromosome 8, 18059579: 18059579
115 ASAH1 NM_177924.4(ASAH1): c.504-4A> G single nucleotide variant Uncertain significance rs138920776 GRCh37 Chromosome 8, 17919936: 17919936
116 ASAH1 NM_177924.4(ASAH1): c.504-4A> G single nucleotide variant Uncertain significance rs138920776 GRCh38 Chromosome 8, 18062427: 18062427
117 ASAH1 NM_177924.4(ASAH1): c.132A> T (p.Arg44Ser) single nucleotide variant Uncertain significance rs373524235 GRCh37 Chromosome 8, 17928893: 17928893
118 ASAH1 NM_177924.4(ASAH1): c.132A> T (p.Arg44Ser) single nucleotide variant Uncertain significance rs373524235 GRCh38 Chromosome 8, 18071384: 18071384
119 ASAH1 NM_177924.4(ASAH1): c.-219A> T single nucleotide variant Uncertain significance rs539981182 GRCh37 Chromosome 8, 17941786: 17941786
120 ASAH1 NM_177924.4(ASAH1): c.-219A> T single nucleotide variant Uncertain significance rs539981182 GRCh38 Chromosome 8, 18084277: 18084277
121 ASAH1 NM_004315.5(ASAH1): c.696+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 18062278: 18062278
122 ASAH1 NM_004315.5(ASAH1): c.696+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 17919787: 17919787

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:

37 (showing 2, show less)
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Farber Lipogranulomatosis according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 ACER3 ASAH1 CERS1 NAGA PSAP
2
Show member pathways
11.33 ACER3 ASAH1 CERS1 PSAP
3 11.23 ASAH1 CERS1
4 11.22 ASAH1 NAGA PSAP

GO Terms for Farber Lipogranulomatosis

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

(showing 2, show less)
# 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:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 ASAH1 CERS1 PSAP
2 sphingolipid biosynthetic process GO:0030148 9.16 ACER3 CERS1
3 glycosphingolipid metabolic process GO:0006687 8.96 ASAH1 PSAP
4 ceramide metabolic process GO:0006672 8.62 ACER3 ASAH1

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 8.92 ACER3 ASAH1 CLCA4 NAGA

Sources for Farber Lipogranulomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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