FD
MCID: FBR012
MIFTS: 72

Fabry Disease (FD)

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

NIH Rare Diseases : 53 Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes. Lysosomal enzymes help breakdown other proteins, carbohydrates, fats, and other substances. In Fabry disease, there is not enough of the enzyme alpha-galactosidase (alpha-GAL). Alpha-GAL helps breakdown a fatty acid called "globotriaosylceramide" or GL3 ". Without enough alpha-GAL, the lysosomes become filled with GL-3 and can not work well. Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, 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. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys. Fabry disease is caused by certain changes (pathogenic variants, also called mutations) in the GLA gene. Since the GLA gene is located on the X chromosome, Fabry disease is inherited in an X-linked manner. Although an enzyme assay test measuring the activity of alpha-GAL can diagnose Fabry disease in males, diagnosis is usually made by genetic testing in both males and females. Treatment may include enzyme replacement therapy (ERT), pain medications, and ACE inhibitors. End stage kidney disease may be treated by dialysis or kidney transplantation. Migalastat (brand name Galafold) received FDA approval in 2018 to treat some adults who have specific pathogenic variants (mutations) causing Fabry disease.

MalaCards based summary : Fabry Disease, also known as alpha-galactosidase a deficiency, is related to fucosidosis and sphingolipidosis, and has symptoms including seizures, vomiting and angina pectoris. 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 Coal tar and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and heart, and related phenotypes are depressivity and hypertension

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.

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)

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.  

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.

Wikipedia : 76 Fabry disease, also known as Anderson�??Fabry disease, is a rare genetic disease that can affect many... 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 173)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 32.5 AGA FUCA1 NAGA
2 sphingolipidosis 32.1 GLA PSAP
3 neuraminidase deficiency 30.8 NAGA PSAP
4 aspartylglucosaminuria 30.6 AGA NAGA
5 hypertrophic cardiomyopathy 30.5 GLA LAMP2 PRKAG2 TNNI3
6 gangliosidosis gm1 30.3 GLA PSAP
7 kidney disease 30.2 CST3 GLA NOS3 UMOD
8 angiokeratoma 30.2 AGA FUCA1 GLA NAGA
9 chronic kidney failure 30.2 CST3 GLA NOS3 UMOD
10 lysosomal storage disease 29.7 AGA FUCA1 GLA
11 atrial standstill 1 29.4 GLA LAMP2 PRKAG2 TNNI3
12 angiokeratoma corporis diffusum with arteriovenous fistulas 12.6
13 neuropathy, hereditary sensory and autonomic, type iii 12.1
14 kanzaki disease 12.1
15 schindler disease 12.0
16 mccallum macadam johnston syndrome 11.9
17 schindler disease, type i 11.5
18 fibrous dysplasia/mccune-albright syndrome 11.1
19 mannosidosis 10.5
20 lymphoma, hodgkin, classic 10.3
21 mannosidosis, beta a, lysosomal 10.3
22 galactosialidosis 10.3
23 myocardial infarction 10.3
24 angiokeratoma circumscriptum 10.3
25 dyspepsia 10.3
26 neuropathy 10.3
27 fibrous dysplasia 10.2
28 renal artery atheroma 10.2 CST3 NOS3
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
30 farber lipogranulomatosis 10.2 NAGA PSAP
31 toxic myocarditis 10.2 NOS3 TNNI3
32 multiple sclerosis 10.2
33 end stage renal failure 10.1
34 dysautonomia 10.1
35 peripheral artery disease 10.1 CST3 NOS3
36 amyloidosis 10.1
37 cardiomyopathy, familial hypertrophic, 6 10.1 PRKAG2 TNNI3
38 acute kidney tubular necrosis 10.1 CST3 UMOD
39 erythermalgia, primary 10.0
40 gaucher's disease 10.0
41 iga glomerulonephritis 10.0
42 danon disease 10.0 LAMP2 PRKAG2
43 glycogen storage disease ii 10.0 LAMP2 PRKAG2
44 properdin deficiency, x-linked 10.0
45 alopecia areata 2 10.0
46 dwarfism 10.0
47 keratopathy 10.0
48 left ventricular noncompaction 10.0
49 priapism 10.0
50 meningitis 10.0

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:


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

MGI Mouse Phenotypes related to Fabry Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 A4GALT AGA FUCA1 GLA LAMP2 NOS3
2 homeostasis/metabolism MP:0005376 10.15 A4GALT AGA CST3 FUCA1 GLA KCNN4
3 cardiovascular system MP:0005385 10.01 CST3 GLA KCNN4 LAMP2 NOS3 PRKAG2
4 immune system MP:0005387 9.97 A4GALT GLA KCNN4 LAMP2 NAGA NOS3
5 muscle MP:0005369 9.76 CST3 GLA KCNN4 LAMP2 NOS3 PRKAG2
6 liver/biliary system MP:0005370 9.73 AGA GLA LAMP2 NOS3 PRKAG2 PSAP
7 nervous system MP:0003631 9.56 AGA CST3 FUCA1 GLA LAMP2 NOS3
8 renal/urinary system MP:0005367 9.23 AGA FUCA1 GLA KCNN4 NOS3 PSAP

Drugs & Therapeutics for Fabry Disease

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

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

Interventional clinical trials:

(show top 50) (show all 146)
# 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 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
11 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
12 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
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 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
17 A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease Recruiting NCT03737214 Phase 3 Lucerastat
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, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) Recruiting NCT03500094 Phase 3 migalastat HCl 150 mg
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 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Active, not recruiting NCT03018730 Phase 3
24 Extension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry Disease Enrolling by invitation NCT03566017 Phase 3
25 Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients Enrolling by invitation NCT03614234 Phase 3
26 Open-Label Phase 3 Long-Term Safety Study of Migalastat Terminated NCT01458119 Phase 3 migalastat hydrochloride
27 Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Withdrawn NCT02921620 Phase 3
28 Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease Completed NCT02489344 Phase 2 GZ/SAR402671
29 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
30 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed NCT01363492 Phase 2
31 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00196716 Phase 2
32 Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Completed NCT00075244 Phase 2 Replagal
33 Dosing Study of Replagal in Patients With Fabry Disease Completed NCT00068107 Phase 2 Replagal
34 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
35 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
36 A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease Completed NCT00304512 Phase 2 migalastat HCl
37 A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed NCT00283933 Phase 2 migalastat HCl
38 A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed NCT00214500 Phase 2 migalastat HCl
39 A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed NCT00283959 Phase 2 migalastat HCl
40 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
41 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed NCT00084084 Phase 2 Agalsidase alfa
42 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed NCT01678898 Phase 1, Phase 2 PRX-102
43 Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease Completed NCT01196871 Phase 2 Migalastat HCl
44 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed NCT01304277 Phase 2
45 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
46 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
47 Extension Study of PRX-102 for up to 60 Months Enrolling by invitation NCT01981720 Phase 1, Phase 2
48 Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease Not yet recruiting NCT03228940 Phase 1, Phase 2 RVX000222
49 Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study Terminated NCT00526071 Phase 2 migalastat HCl
50 Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme Terminated NCT00837824 Phase 2

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, Testes, Brain, Bone

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 1316)
# Title Authors Year
1
Whole immunofluorescence staining of podocytes in fabry disease. ( 30556367 )
2019
2
Motor involvement in Fabry disease. ( 29326873 )
2018
3
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
4
Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography in Assessment of Left Ventricular Hypertrophy in Fabry Disease. ( 29935990 )
2018
5
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
6
Inner ear involvement in fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. ( 29307789 )
2018
7
Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report. ( 29954050 )
2018
8
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. ( 29867742 )
2018
9
Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) as a biomarker for cardiac variant (N215S) Fabry disease. ( 29294190 )
2018
10
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. ( 29437868 )
2018
11
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
12
Default mode network modifications in Fabry disease: A resting-state fMRI study with structural correlations. ( 29315984 )
2018
13
Quantification of sweat gland innervation in patients with Fabry disease: A case-control study. ( 29801874 )
2018
14
Editorial commentary: Newborn screening for Fabry disease: Too much too soon? ( 29336944 )
2018
15
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. ( 29452394 )
2018
16
Detecton of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease. ( 29974530 )
2018
17
Awareness of Fabry disease in cardiology: A gap to be filled. ( 29801713 )
2018
18
Simple and efficient screening of patients with Fabry disease with high resolution melting. ( 29305833 )
2018
19
Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease. ( 29878206 )
2018
20
I+-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease. ( 29979634 )
2018
21
<i>In Vivo</i> Confocal Microscopic Observations of Vortex Keratopathy in Patients with Amiodarone-Induced Keratopathy and Fabry Disease. ( 29750121 )
2018
22
Anderson-Fabry disease in heart failure. ( 29909504 )
2018
23
Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease. ( 29326878 )
2018
24
A pilot study of circulating microRNAs as potential biomarkers of Fabry disease. ( 29937989 )
2018
25
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
26
A predominant cardiac phenotype of Anderson-Fabry disease in presence of a MYBPC3 gene mutation and a LAMA4 gene mutation. ( 29415625 )
2018
27
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
28
Hemizygous Fabry disease associated with membranous nephropathy: A rare case reporta8c. ( 29792392 )
2018
29
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M). ( 29927462 )
2018
30
Major Organic Involvement in Women with Fabry Disease in Argentina. ( 29950951 )
2018
31
Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role. ( 29924222 )
2018
32
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
33
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy. ( 30246259 )
2018
34
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. ( 29703262 )
2018
35
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy. ( 30117110 )
2018
36
An atypical p.N215S variant of Fabry disease with end-stage renal failure. ( 30023289 )
2018
37
Long-term Outcomes of Kidney Transplantation in Fabry Disease. ( 29688992 )
2018
38
Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease. ( 29688998 )
2018
39
Development and Analytical Characterization of Pegunigalsidase Alfa, a Chemically Cross-Linked Plant Recombinant Human α-Galactosidase-A for Treatment of Fabry Disease. ( 29698600 )
2018
40
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy. ( 29713479 )
2018
41
Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy. ( 29724657 )
2018
42
p.D313Y is more than just a polymorphism in Fabry disease. ( 29740824 )
2018
43
Mulberry Bodies: Fabry Disease. ( 29752903 )
2018
44
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. ( 29755794 )
2018
45
Variable phenotypic presentations of renal involvement in Fabry disease: a case series. ( 29770213 )
2018
46
Proposed Stages of Myocardial Phenotype Development in Fabry Disease. ( 29778854 )
2018
47
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. ( 29785937 )
2018
48
Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation. ( 29797054 )
2018
49
Fabry disease: Something cardiologists must always bear in mind. ( 29853160 )
2018
50
Cardiac Phenotype of Prehypertrophic Fabry Disease. ( 29853467 )
2018

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 rs105752104
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 526)
# 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.196G> C (p.Glu66Gln) single nucleotide variant Likely benign rs104894833 GRCh37 Chromosome X, 100658972: 100658972
19 GLA NM_000169.2(GLA): c.196G> C (p.Glu66Gln) single nucleotide variant Likely benign rs104894833 GRCh38 Chromosome X, 101403984: 101403984
20 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh37 Chromosome X, 100662791: 100662791
21 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh38 Chromosome X, 101407803: 101407803
22 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh37 Chromosome X, 100662726: 100662726
23 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh38 Chromosome X, 101407738: 101407738
24 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh37 Chromosome X, 100656731: 100656731
25 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh38 Chromosome X, 101401743: 101401743
26 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh37 Chromosome X, 100656701: 100656701
27 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh38 Chromosome X, 101401713: 101401713
28 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Likely pathogenic rs28935196 GRCh37 Chromosome X, 100656683: 100656683
29 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Likely pathogenic rs28935196 GRCh38 Chromosome X, 101401695: 101401695
30 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh37 Chromosome X, 100655687: 100655687
31 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh38 Chromosome X, 101400699: 101400699
32 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh37 Chromosome X, 100653930: 100653930
33 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh38 Chromosome X, 101398942: 101398942
34 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh37 Chromosome X, 100653551: 100653551
35 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh38 Chromosome X, 101398563: 101398563
36 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh37 Chromosome X, 100653894: 100653894
37 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh38 Chromosome X, 101398906: 101398906
38 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh37 Chromosome X, 100653895: 100653895
39 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh38 Chromosome X, 101398907: 101398907
40 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh37 Chromosome X, 100653783: 100653783
41 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh38 Chromosome X, 101398795: 101398795
42 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh37 Chromosome X, 100653777: 100653777
43 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh38 Chromosome X, 101398789: 101398789
44 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh37 Chromosome X, 100653496: 100653496
45 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh38 Chromosome X, 101398508: 101398508
46 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh37 Chromosome X, 100653467: 100653467
47 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh38 Chromosome X, 101398479: 101398479
48 GLA; RPL36A-HNRNPH2 NM_000169.2(GLA): c.937G> T (p.Asp313Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28935490 GRCh37 Chromosome X, 100653420: 100653420
49 GLA; RPL36A-HNRNPH2 NM_000169.2(GLA): c.937G> T (p.Asp313Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28935490 GRCh38 Chromosome X, 101398432: 101398432
50 GLA NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh37 Chromosome X, 100653378: 100653378

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 9.8 CST3 FUCA1 GLA LAMP2 NAGA PSAP
2 azurophil granule lumen GO:0035578 9.33 AGA FUCA1 GLA
3 lysosomal lumen GO:0043202 9.26 FUCA1 GLA LAMP2 PSAP
4 lysosome GO:0005764 9.1 AGA FUCA1 GLA LAMP2 NAGA PSAP

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 9.61 FUCA1 GLA NAGA
2 metabolic process GO:0008152 9.54 FUCA1 GLA NAGA
3 neutrophil degranulation GO:0043312 9.43 AGA CST3 FUCA1 GLA LAMP2 PSAP
4 glycosphingolipid metabolic process GO:0006687 9.4 GLA PSAP
5 oligosaccharide metabolic process GO:0009311 9.32 GLA NAGA
6 glycosylceramide catabolic process GO:0046477 9.26 GLA NAGA
7 glycolipid catabolic process GO:0019377 9.16 FUCA1 NAGA
8 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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