MCID: FBR012
MIFTS: 71

Fabry Disease

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

Aliases & Classifications for Fabry Disease

MalaCards integrated aliases for Fabry Disease:

Name: Fabry Disease 57 12 76 24 53 25 54 59 75 37 29 13 55 6 44 15 73
Alpha-Galactosidase a Deficiency 57 12 24 53 25 59
Angiokeratoma Corporis Diffusum 57 12 53 25 59
Anderson-Fabry Disease 57 24 53 25 59
Fabry's Disease 12 76 25 40
Ceramide Trihexosidase Deficiency 57 53 25
Fabry Disease, Cardiac Variant 57 29 6
Hereditary Dystopic Lipidosis 57 53 25
Gla Deficiency 57 53 25
Fd 59 75
Alpha Galactosidase Deficiency 12
Deficiency of Melibiase 12
Angiokeratoma, Diffuse 53
Angiokeratoma Diffuse 25
Diffuse Angiokeratoma 59
Galactosidase, Alpha 13

Characteristics:

Orphanet epidemiological data:

59
fabry disease
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Miscellaneous:
onset usually in childhood or adolescence
death secondary to renal failure, cardiac or cerebrovascular disease
atypical affected males, 'cardiac variants' exist
female carriers experience significant clinical manifestations
occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

Inheritance:
x-linked


HPO:

32
fabry disease:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Fabry Disease

OMIM : 57 Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity of the lysosomal enzyme alpha-galactosidase A. This enzymatic defect leads to the systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes of vessels, nerves, tissues, and organs throughout the body (Nance et al., 2006). The disorder is a systemic disease, manifest as progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, and skin lesions, among other abnormalities (Schiffmann, 2009). An atypical variant of Fabry disease has been reported in which cardiac disease, specifically left ventricular hypertrophy, with or without renal failure, develops in the sixth decade of life. These patients have residual GLA activity (Nakao et al., 1995; Nakao et al., 2003). Although Fabry disease was previously considered to be an X-linked recessive disorder, Wang et al. (2007) found that heterozygous women with Fabry disease experience significant life-threatening conditions requiring medical treatment and intervention. Thus, heterozygous Fabry women should not be called carriers, as this term underestimates the seriousness of the disease in these patients. Clarke (2007) and Schiffmann (2009) provided detailed reviews of Fabry disease. (301500)

MalaCards based summary : Fabry Disease, also known as alpha-galactosidase a deficiency, is related to sphingolipidosis and hypertrophic cardiomyopathy, and has symptoms including abdominal pain, angina pectoris and muscular fasciculation. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha), and among its related pathways/superpathways are Sphingolipid metabolism and Glycosphingolipid biosynthesis - globo and isoglobo series. The drugs 1-Deoxynojirimycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and heart, and related phenotypes are depressivity and hypertension

UniProtKB/Swiss-Prot : 75 Fabry disease: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.

NIH Rare Diseases : 53 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

NINDS : 54 Fabry disease (also called alpha-galactosidase-A deficiency) is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The mutated gene allows lipids to build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and may include: burning sensations in the arms and legs that gets worse with exercise and hot weather, small, non-cancerous, raised reddish-purple blemishes on the skin, clouding in the corneas, impaired blood circulation and increased risk of heart attack or stroke, enlarged heart, kidneys may become progressively impaired, leading to renal failure, and decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

Genetics Home Reference : 25 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

Wikipedia : 76 Fabry disease is a rare genetic disease. It is inherited in an X-linked manner. Fabry disease can cause... more...

GeneReviews: NBK1292

Related Diseases for Fabry Disease

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

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 sphingolipidosis 31.9 GLA PSAP
2 hypertrophic cardiomyopathy 29.8 GLA LAMP2 PRKAG2 TNNI3
3 angiokeratoma 29.2 AGA FUCA1 GLA NAGA
4 angiokeratoma corporis diffusum with arteriovenous fistulas 12.5
5 neuropathy, hereditary sensory and autonomic, type iii 12.0
6 kanzaki disease 11.9
7 fibrous dysplasia/mccune-albright syndrome 10.9
8 renal artery atheroma 10.6 CST3 NOS3
9 glycoproteinosis 10.5 NAGA PSAP
10 farber lipogranulomatosis 10.5 NAGA PSAP
11 toxic myocarditis 10.5 NOS3 TNNI3
12 aspartylglucosaminuria 10.3 AGA NAGA
13 cardiomyopathy, familial hypertrophic, 6 10.3 PRKAG2 TNNI3
14 endotheliitis 10.2
15 acute kidney tubular necrosis 10.2 CST3 UMOD
16 cerebritis 10.1
17 neuropathy 10.1
18 fibrous dysplasia 10.1
19 dyspepsia 10.1
20 danon disease 10.1 LAMP2 PRKAG2
21 aging 10.1
22 glycogen storage disease ii 10.0 LAMP2 PRKAG2
23 kidney disease 10.0
24 dysautonomia 10.0
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
26 wolff-parkinson-white syndrome 9.9 PRKAG2 TNNI3
27 multiple sclerosis 9.9
28 chronic kidney failure 9.9
29 gaucher's disease 9.9
30 amyloidosis 9.9
31 peripheral artery disease 9.9 CST3 NOS3
32 sleep disorder 9.9
33 dwarfism 9.9
34 neuraminidase deficiency 9.9
35 erythermalgia, primary 9.9
36 keratopathy 9.9
37 left ventricular noncompaction 9.9
38 iga glomerulonephritis 9.9
39 retinitis 9.9
40 neuronitis 9.9
41 priapism 9.9
42 meningitis 9.9
43 atrial standstill 1 9.8 LAMP2 PRKAG2 TNNI3
44 macular dystrophy, corneal 9.8
45 corneal dystrophy 9.8
46 skin hemangioma 9.8 FUCA1 GLA NAGA
47 systemic lupus erythematosus 9.8
48 familial mediterranean fever 9.8
49 end stage renal failure 9.8
50 atrial fibrillation 9.8

Graphical network of the top 20 diseases related to Fabry Disease:



Diseases related to Fabry Disease

Symptoms & Phenotypes for Fabry Disease

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertension
myocardial infarction
congestive heart failure
left ventricular septal hypertrophy
angina
more
Laboratory Abnormalities:
proteinuria
alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts
increased level of globotriaosylceramide (gb3) in plasma and urinary sediment
intracellular glycosphingolipid deposition in all tissues of the body
increased plasma globotriaosylsphingosine (lyso-gb3)

Abdomen Gastrointestinal:
vomiting
abdominal pain
nausea
tenesmus
episodic diarrhea

Skin Nails Hair Skin:
hypohidrosis
angiokeratoma

Genitourinary Kidneys:
renal failure
isosthenuria
renal biopsy shows glomerular sclerosis
vacuolization of glomerular and tubular epithelial cells

Respiratory Lung:
mild obstructive lung disease

Neurologic Peripheral Nervous System:
acroparesthesias, episodic
pain and paresthesia in the extremities, episodic
painful crises precipitated by exercise, fatigue, or stress

Neurologic Central Nervous System:
seizures
autonomic dysfunction
transient ischemic attacks
strokes

Growth Other:
delayed puberty
retarded growth

Hematology:
anemia
bone marrow contains lipid-laden macrophages

Muscle Soft Tissue:
lymphedema
muscle cramps
fasciculations

Head And Neck Eyes:
corneal and lenticular opacities
whorl-like corneal dystrophy in carrier females

Skeletal Hands:
limited extension of terminal joints


Clinical features from OMIM:

301500

Human phenotypes related to Fabry Disease:

59 32 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
5 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
6 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
7 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
10 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
11 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
12 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
13 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
14 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
15 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
16 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
17 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
18 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
19 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
20 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
21 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
22 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
23 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
24 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
25 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
26 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
27 emphysema 59 32 frequent (33%) Frequent (79-30%) HP:0002097
28 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
29 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
30 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
31 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
32 transient ischemic attack 59 32 hallmark (90%) Very frequent (99-80%) HP:0002326
33 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
34 thick lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000179
35 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
36 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
37 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
38 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
39 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
40 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
41 abnormality of the renal tubule 59 32 frequent (33%) Frequent (79-30%) HP:0000091
42 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
43 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
44 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
45 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
46 conjunctival telangiectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000524
47 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
48 diabetes insipidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000873
49 angiokeratoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001014
50 mitral regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001653

UMLS symptoms related to Fabry Disease:


abdominal pain, angina pectoris, muscular fasciculation, muscle cramp, nausea, seizures, vomiting, rectal tenesmus

MGI Mouse Phenotypes related to Fabry Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 A4GALT AGA DDC GLA LAMP2 NOS3
2 homeostasis/metabolism MP:0005376 10.1 A4GALT AGA CST3 DDC GLA KCNN4
3 cardiovascular system MP:0005385 10.02 NOS3 PRKAG2 PSAP TNNI3 CST3 DDC
4 immune system MP:0005387 9.96 A4GALT DDC GLA KCNN4 LAMP2 NAGA
5 liver/biliary system MP:0005370 9.63 AGA GLA LAMP2 NOS3 PRKAG2 PSAP
6 muscle MP:0005369 9.56 NOS3 PRKAG2 PSAP TNNI3 CST3 GLA
7 renal/urinary system MP:0005367 9.17 AGA DDC GLA KCNN4 NOS3 PSAP

Drugs & Therapeutics for Fabry Disease

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
1-Deoxynojirimycin Experimental Phase 3,Phase 2,Phase 1 19130-96-2 1374
2 Anti-Infective Agents Phase 3,Phase 2,Phase 1
3 Antiviral Agents Phase 3,Phase 2,Phase 1
4 Pharmaceutical Solutions Phase 3,Phase 1
5
Coal tar Approved Phase 2 8007-45-2
6 Neurotransmitter Agents Phase 2
7 Peripheral Nervous System Agents Phase 2
8
Menthol Approved 2216-51-5 16666
9
Acetylcholine Approved ,Not Applicable 51-84-3 187
10
Nitroprusside Approved, Investigational 15078-28-1 11963622
11
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
12
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
13
Enalaprilat Approved 76420-72-9 6917719
14
Losartan Approved 114798-26-4 3961
15
Hydroquinone Approved, Investigational 123-31-9 785
16
Tropicamide Approved, Investigational 1508-75-4 5593
17
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
18
Ethanol Approved Not Applicable 64-17-5 702
19
Ergocalciferol Approved, Nutraceutical Not Applicable 50-14-6 5280793
20 tannic acid Approved, Nutraceutical
21
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
22 Annexin A5
23 Antibodies
24 Immunoglobulins
25 Fluorodeoxyglucose F18
26 Bone Density Conservation Agents Not Applicable
27 Ergocalciferols Not Applicable
28 Hormones Not Applicable
29 Micronutrients Not Applicable
30 Trace Elements Not Applicable
31 Vitamins Not Applicable
32 Angiotensin II Type 1 Receptor Blockers
33 Angiotensin Receptor Antagonists
34 Angiotensin-Converting Enzyme Inhibitors
35 Angiotensinogen
36 Anti-Arrhythmia Agents
37 Antihypertensive Agents
38 HIV Protease Inhibitors
39
protease inhibitors
40 Autonomic Agents
41 Cholinergic Agents
42 Cholinergic Antagonists
43 Muscarinic Antagonists
44 Mydriatics
45 Ophthalmic Solutions
46 Retinol palmitate Not Applicable
47 Anesthetics Not Applicable
48 Anesthetics, Local Not Applicable
49 Calciferol Nutraceutical Not Applicable
50 Vitamin D2 Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
3 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
4 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
5 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
6 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
7 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
8 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
9 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
10 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
11 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed NCT01298141 Phase 3
12 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
13 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
14 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
15 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
16 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
17 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
18 Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease Recruiting NCT03425539 Phase 3 Lucerastat;Placebo
19 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Recruiting NCT03180840 Phase 3
20 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
21 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
22 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3 migalastat HCl 150 mg
23 Extension Study of 1 mg/mL Pegunigalsidase Alfa in Patients With Fabry Disease Not yet recruiting NCT03566017 Phase 3
24 Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) Not yet recruiting NCT03500094 Phase 3 migalastat HCl 150 mg
25 Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Withdrawn NCT02921620 Phase 3
26 Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 Study Completed NCT00526071 Phase 2 AT1001
27 Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease Completed NCT02228460 Phase 2 GZ/SAR402671
28 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed NCT01363492 Phase 2
29 Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease Completed NCT01196871 Phase 2 AT1001
30 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00196716 Phase 2
31 Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Completed NCT00075244 Phase 2 Replagal
32 Dosing Study of Replagal in Patients With Fabry Disease Completed NCT00068107 Phase 2 Replagal
33 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
34 A Study of AT1001 in Patients With Fabry Disease Completed NCT00214500 Phase 2 AT1001 (migalastat hydrochloride)
35 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry Disease Completed NCT00304512 Phase 2 AT1001 (migalastat hydrochloride)
36 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283959 Phase 2 AT1001 (migalastat hydrochloride)
37 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2 AT1001 (migalastat hydrochloride)
38 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
39 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
40 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed NCT00084084 Phase 2 Agalsidase alfa
41 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed NCT01678898 Phase 1, Phase 2 PRX-102
42 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed NCT01304277 Phase 2
43 An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry Patients Completed NCT01769001 Phase 1, Phase 2 PRX-102
44 Open-Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment -Naive Subjects With Classic Fabry Disease Recruiting NCT03454893 Phase 1, Phase 2 AVR-RD-01
45 Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease Active, not recruiting NCT02489344 Phase 2 GZ/SAR402671
46 Extension Study of PRX-102 for up to 60 Months Enrolling by invitation NCT01981720 Phase 1, Phase 2
47 Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease Not yet recruiting NCT03228940 Phase 1, Phase 2 RVX000222
48 Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme Terminated NCT00837824 Phase 2
49 Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease Withdrawn NCT01588314 Phase 2 Gabapentin;placebo
50 A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease Completed NCT02930655 Phase 1 Lucerastat;Enzyme replacement therapy (ERT)

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: fabry disease

Genetic Tests for Fabry Disease

Genetic tests related to Fabry Disease:

# Genetic test Affiliating Genes
1 Fabry Disease 29 GLA
2 Fabry Disease, Cardiac Variant 29

Anatomical Context for Fabry Disease

MalaCards organs/tissues related to Fabry Disease:

41
Skin, Kidney, Heart, Eye, Bone, Endothelial, Lung

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 950)
# Title Authors Year
1
Motor involvement in Fabry disease. ( 29326873 )
2018
2
Severe Bradyarrhythmia Linked to Left Atrial Dysfunction in Fabry disease - a Cross-Sectional Study: Cross-Sectional Analysis of the Clinical, Electrocardiographic and Echocardiographic Determinants of Bradyarrhythmic Events in Patients with Fabry Disease - the Impact of Left Atrial Function. ( 29959806 )
2018
3
Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography in Assessment of Left Ventricular Hypertrophy in Fabry Disease. ( 29935990 )
2018
4
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry. ( 29215092 )
2018
5
Inner ear involvement in fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. ( 29307789 )
2018
6
Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report. ( 29954050 )
2018
7
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. ( 29867742 )
2018
8
Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) as a biomarker for cardiac variant (N215S) Fabry disease. ( 29294190 )
2018
9
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. ( 29437868 )
2018
10
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients. ( 29875425 )
2018
11
Default mode network modifications in Fabry disease: A resting-state fMRI study with structural correlations. ( 29315984 )
2018
12
Quantification of sweat gland innervation in patients with Fabry disease: A case-control study. ( 29801874 )
2018
13
Editorial commentary: Newborn screening for Fabry disease: Too much too soon? ( 29336944 )
2018
14
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. ( 29452394 )
2018
15
Detecton of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease. ( 29974530 )
2018
16
Awareness of Fabry disease in cardiology: A gap to be filled. ( 29801713 )
2018
17
Simple and efficient screening of patients with Fabry disease with high resolution melting. ( 29305833 )
2018
18
Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease. ( 29878206 )
2018
19
I+-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease. ( 29979634 )
2018
20
<i>In Vivo</i> Confocal Microscopic Observations of Vortex Keratopathy in Patients with Amiodarone-Induced Keratopathy and Fabry Disease. ( 29750121 )
2018
21
Anderson-Fabry disease in heart failure. ( 29909504 )
2018
22
Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease. ( 29326878 )
2018
23
A pilot study of circulating microRNAs as potential biomarkers of Fabry disease. ( 29937989 )
2018
24
Letter regarding Morsbach et al. &amp;quot;Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy&amp;quot;. ( 29395363 )
2018
25
A predominant cardiac phenotype of Anderson-Fabry disease in presence of a MYBPC3 gene mutation and a LAMA4 gene mutation. ( 29415625 )
2018
26
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic<i>GLA</i>mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. ( 29330335 )
2018
27
Hemizygous Fabry disease associated with membranous nephropathy: A rare case reporta8c. ( 29792392 )
2018
28
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M). ( 29927462 )
2018
29
Major Organic Involvement in Women with Fabry Disease in Argentina. ( 29950951 )
2018
30
Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role. ( 29924222 )
2018
31
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
32
Cardiac Phenotype of Prehypertrophic Fabry Disease. ( 29853467 )
2018
33
Fabry disease: Something cardiologists must always bear in mind. ( 29853160 )
2018
34
A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse. ( 29880732 )
2018
35
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease. ( 29274327 )
2018
36
Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion. ( 29421273 )
2018
37
Value of the CHA<sub>2</sub>DS<sub>2</sub>-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation. ( 29797054 )
2018
38
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease. ( 28523190 )
2017
39
Fabry Disease: An Uncommon Cause of Renal Failure. ( 28389313 )
2017
40
COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers. ( 28225726 )
2017
41
Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease. ( 28794847 )
2017
42
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a &amp;quot;Kidney Disease: Improving Global Outcomes&amp;quot; (KDIGO) Controversies Conference. ( 27998644 )
2017
43
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. ( 28835480 )
2017
44
A novel mutation and in vivo confocal microscopic findings in Fabry disease. ( 28337063 )
2017
45
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina. ( 28507907 )
2017
46
High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper. ( 28384397 )
2017
47
E-Learning for Rare Diseases: An Example Using Fabry Disease. ( 28946642 )
2017
48
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. ( 28943383 )
2017
49
Segment-by-segment assessment of left ventricular myocardial affection in Anderson-Fabry disease by non-enhanced T1-mapping. ( 27799574 )
2017
50
Low frequency of Fabry disease in patients with common heart disease. ( 29227985 )
2017

Variations for Fabry Disease

UniProtKB/Swiss-Prot genetic disease variations for Fabry Disease:

75 (show top 50) (show all 180)
# Symbol AA change Variation ID SNP ID
1 GLA p.Leu32Pro VAR_000431
2 GLA p.Asn34Ser VAR_000432 rs104894835
3 GLA p.Gly35Arg VAR_000433
4 GLA p.Pro40Ser VAR_000434 rs104894831
5 GLA p.Arg49Leu VAR_000435
6 GLA p.Cys52Arg VAR_000436
7 GLA p.Cys52Ser VAR_000437 rs869312256
8 GLA p.Cys56Phe VAR_000438 rs869312258
9 GLA p.Cys56Gly VAR_000439 rs104894836
10 GLA p.Glu59Lys VAR_000440
11 GLA p.Glu66Gln VAR_000441 rs104894833
12 GLA p.Met72Val VAR_000442
13 GLA p.Gly85Asp VAR_000443
14 GLA p.Leu89Arg VAR_000444
15 GLA p.Arg100Lys VAR_000445 rs869312273
16 GLA p.Arg112Cys VAR_000447 rs104894834
17 GLA p.Arg112His VAR_000448 rs372966991
18 GLA p.Gly128Glu VAR_000450
19 GLA p.Leu131Pro VAR_000451 rs869312298
20 GLA p.Cys142Tyr VAR_000452
21 GLA p.Ala143Pro VAR_000453 rs104894845
22 GLA p.Gly144Val VAR_000454
23 GLA p.Pro146Ser VAR_000455 rs104894837
24 GLA p.Ala156Thr VAR_000456 rs28935195
25 GLA p.Ala156Val VAR_000457 rs869312307
26 GLA p.Trp162Arg VAR_000458 rs28935196
27 GLA p.Asp165Val VAR_000459
28 GLA p.Leu166Val VAR_000460
29 GLA p.Cys172Tyr VAR_000461 rs869312318
30 GLA p.Cys202Trp VAR_000462 rs104894838
31 GLA p.Pro205Thr VAR_000463 rs397515870
32 GLA p.Asn215Ser VAR_000464 rs28935197
33 GLA p.Ile219Asn VAR_000465
34 GLA p.Asn224Asp VAR_000466
35 GLA p.Arg227Gln VAR_000467 rs104894840
36 GLA p.Asp231Asn VAR_000468
37 GLA p.Asp244Asn VAR_000469 rs727503948
38 GLA p.Asp264Val VAR_000471 rs28935486
39 GLA p.Asp266Val VAR_000472 rs28935487
40 GLA p.Val269Ala VAR_000473 rs28935488
41 GLA p.Asn272Lys VAR_000474
42 GLA p.Gln279Glu VAR_000475 rs28935485
43 GLA p.Met284Thr VAR_000476
44 GLA p.Ala288Asp VAR_000477 rs869312437
45 GLA p.Met296Val VAR_000478 rs104894830
46 GLA p.Ser297Phe VAR_000479 rs28935489
47 GLA p.Asn298Lys VAR_000480
48 GLA p.Arg301Gln VAR_000481 rs104894828
49 GLA p.Asp313Tyr VAR_000482 rs28935490
50 GLA p.Val316Glu VAR_000483

ClinVar genetic disease variations for Fabry Disease:

6
(show top 50) (show all 483)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLA NM_000169.2(GLA): c.1066C> T (p.Arg356Trp) single nucleotide variant Likely pathogenic rs104894827 GRCh37 Chromosome X, 100653021: 100653021
2 GLA NM_000169.2(GLA): c.1066C> T (p.Arg356Trp) single nucleotide variant Likely pathogenic rs104894827 GRCh38 Chromosome X, 101398033: 101398033
3 GLA GLA, EX3DEL deletion Pathogenic
4 GLA NM_000169.2(GLA): c.902G> A (p.Arg301Gln) single nucleotide variant Pathogenic rs104894828 GRCh37 Chromosome X, 100653455: 100653455
5 GLA NM_000169.2(GLA): c.902G> A (p.Arg301Gln) single nucleotide variant Pathogenic rs104894828 GRCh38 Chromosome X, 101398467: 101398467
6 GLA NM_000169.2(GLA): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894829 GRCh37 Chromosome X, 100662761: 100662761
7 GLA NM_000169.2(GLA): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894829 GRCh38 Chromosome X, 101407773: 101407773
8 GLA NM_000169.2(GLA): c.886A> G (p.Met296Val) single nucleotide variant Pathogenic rs104894830 GRCh37 Chromosome X, 100653471: 100653471
9 GLA NM_000169.2(GLA): c.886A> G (p.Met296Val) single nucleotide variant Pathogenic rs104894830 GRCh38 Chromosome X, 101398483: 101398483
10 GLA GLA, EX4DEL deletion Pathogenic
11 GLA NM_000169.2(GLA): c.118C> T (p.Pro40Ser) single nucleotide variant Pathogenic rs104894831 GRCh37 Chromosome X, 100662774: 100662774
12 GLA NM_000169.2(GLA): c.118C> T (p.Pro40Ser) single nucleotide variant Pathogenic rs104894831 GRCh38 Chromosome X, 101407786: 101407786
13 GLA GLA, IVS6DS, G-T, +1 single nucleotide variant Pathogenic
14 GLA NM_000169.2(GLA): c.835C> G (p.Gln279Glu) single nucleotide variant Pathogenic rs28935485 GRCh37 Chromosome X, 100653522: 100653522
15 GLA NM_000169.2(GLA): c.835C> G (p.Gln279Glu) single nucleotide variant Pathogenic rs28935485 GRCh38 Chromosome X, 101398534: 101398534
16 GLA NM_000169.2(GLA): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs104894832 GRCh37 Chromosome X, 100653375: 100653375
17 GLA NM_000169.2(GLA): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs104894832 GRCh38 Chromosome X, 101398387: 101398387
18 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh37 Chromosome X, 100662791: 100662791
19 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh38 Chromosome X, 101407803: 101407803
20 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh37 Chromosome X, 100662726: 100662726
21 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh38 Chromosome X, 101407738: 101407738
22 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh37 Chromosome X, 100656731: 100656731
23 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh38 Chromosome X, 101401743: 101401743
24 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh37 Chromosome X, 100656701: 100656701
25 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh38 Chromosome X, 101401713: 101401713
26 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Pathogenic rs28935196 GRCh37 Chromosome X, 100656683: 100656683
27 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Pathogenic rs28935196 GRCh38 Chromosome X, 101401695: 101401695
28 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh37 Chromosome X, 100655687: 100655687
29 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh38 Chromosome X, 101400699: 101400699
30 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh37 Chromosome X, 100653930: 100653930
31 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh38 Chromosome X, 101398942: 101398942
32 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh37 Chromosome X, 100653551: 100653551
33 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh38 Chromosome X, 101398563: 101398563
34 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh37 Chromosome X, 100653894: 100653894
35 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh38 Chromosome X, 101398906: 101398906
36 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh37 Chromosome X, 100653895: 100653895
37 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh38 Chromosome X, 101398907: 101398907
38 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh37 Chromosome X, 100653783: 100653783
39 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh38 Chromosome X, 101398795: 101398795
40 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh37 Chromosome X, 100653777: 100653777
41 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh38 Chromosome X, 101398789: 101398789
42 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh37 Chromosome X, 100653496: 100653496
43 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh38 Chromosome X, 101398508: 101398508
44 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh37 Chromosome X, 100653467: 100653467
45 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh38 Chromosome X, 101398479: 101398479
46 GLA NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh37 Chromosome X, 100653378: 100653378
47 GLA NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh38 Chromosome X, 101398390: 101398390
48 GLA NM_000169.2(GLA): c.983G> C (p.Gly328Ala) single nucleotide variant Pathogenic rs28935492 GRCh37 Chromosome X, 100653374: 100653374
49 GLA NM_000169.2(GLA): c.983G> C (p.Gly328Ala) single nucleotide variant Pathogenic rs28935492 GRCh38 Chromosome X, 101398386: 101398386
50 GLA NM_000169.2(GLA): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs104894842 GRCh37 Chromosome X, 100653067: 100653067

Expression for Fabry Disease

Search GEO for disease gene expression data for Fabry Disease.

Pathways for Fabry Disease

Pathways related to Fabry Disease according to KEGG:

37
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Glycosphingolipid biosynthesis - globo and isoglobo series hsa00603
3 Lysosome hsa04142

Pathways related to Fabry Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 AGA FUCA1 GLA LAMP2 NAGA PSAP
2
Show member pathways
10.7 A4GALT GLA NAGA
3 10.41 AGA FUCA1

GO Terms for Fabry Disease

Cellular components related to Fabry Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.85 A4GALT AGA CST3 DDC FUCA1 GLA
2 azurophil granule lumen GO:0035578 9.43 AGA FUCA1 GLA
3 contractile fiber GO:0043292 9.32 CST3 TNNI3
4 lysosomal lumen GO:0043202 9.26 FUCA1 GLA LAMP2 PSAP
5 lysosome GO:0005764 9.17 AGA CST3 FUCA1 GLA LAMP2 NAGA

Biological processes related to Fabry Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.54 FUCA1 GLA NAGA
2 neutrophil degranulation GO:0043312 9.43 AGA CST3 FUCA1 GLA LAMP2 PSAP
3 oligosaccharide metabolic process GO:0009311 9.32 GLA NAGA
4 glycosylceramide catabolic process GO:0046477 9.26 GLA NAGA
5 glycolipid catabolic process GO:0019377 9.16 FUCA1 NAGA
6 glycoside catabolic process GO:0016139 8.8 FUCA1 GLA NAGA

Molecular functions related to Fabry Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GLA NAGA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 FUCA1 GLA NAGA
3 alpha-galactosidase activity GO:0004557 8.62 GLA NAGA

Sources for Fabry Disease

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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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