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 54 12 72 23 50 24 25 51 56 71 29 13 52 42 14 69
Alpha-Galactosidase a Deficiency 12 23 50 24 25 56
Angiokeratoma Corporis Diffusum 12 50 25 56 29
Anderson-Fabry Disease 23 50 24 25 56
Gla Deficiency 50 24 25
Ceramide Trihexosidase Deficiency 50 25
Fabry Disease, Cardiac Variant 54 29
Hereditary Dystopic Lipidosis 50 25
Fabry's Disease 12 25
Fd 56 71
Alpha Galactosidase Deficiency 12
Deficiency of Melibiase 12
Angiokeratoma, Diffuse 50
Angiokeratoma Diffuse 25
Diffuse Angiokeratoma 56
Galactosidase, Alpha 13

Characteristics:

Orphanet epidemiological data:

56
fabry disease
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM:

54
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

NINDS : 51 Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which 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 include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include 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.  

MalaCards based summary : Fabry Disease, also known as alpha-galactosidase a deficiency, is related to angiokeratoma corporis diffusum with arteriovenous fistulas and classic fabry disease, and has symptoms including short stature, optic atrophy and cognitive impairment. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha), and among its related pathways/superpathways are Lysosome and Globo Sphingolipid Metabolism. The drugs 1-Deoxynojirimycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related phenotypes are behavior/neurological and homeostasis/metabolism

NIH Rare Diseases : 50 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. last updated: 3/28/2016

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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)

Wikipedia : 72 Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry... 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 119)
id Related Disease Score Top Affiliating Genes
1 angiokeratoma corporis diffusum with arteriovenous fistulas 12.3
2 classic fabry disease 12.0
3 atypical and late onset variants of fabry disease 11.8
4 kanzaki disease 11.8
5 dysautonomia, familial 11.7
6 sphingolipidosis 11.1
7 fibrous dysplasia/mccune-albright syndrome 10.8
8 extragonadal germ cell cancer 10.6 GLA NAGA
9 acquired gastric outlet stenosis 10.5 CST3 NOS3
10 indeterminate leprosy 10.5 NOS3 TNNI3
11 bone angioendothelial sarcoma 10.5 NAGA PSAP
12 spinal muscular atrophy with progressive myoclonic epilepsy 10.4 NAGA PSAP
13 ophthalmia neonatorum 10.4 NOS3 TNNI3
14 cardiomyopathy 10.3
15 renal fibrosis 10.2 NOS3 TNNI3
16 angiokeratoma 10.2
17 focal dystonia 10.2 CST3 NOS3
18 endotheliitis 10.1
19 mental retardation, x-linked syndromic, nascimento-type 10.0 LAMP2 PRKAG2
20 neuropathy 10.0
21 dyspepsia 10.0
22 fibrous dysplasia 10.0
23 deafness, autosomal dominant 20/26 10.0 LAMP2 PRKAG2
24 dysostosis 9.9 GLA PSAP
25 fucosidosis 9.9 FUCA1 NAGA
26 kidney disease 9.9
27 cerebritis 9.9
28 dysautonomia 9.9
29 atherosclerosis 9.8
30 ependymoblastoma 9.8 FUCA1 GLA NAGA
31 dwarfism 9.8
32 sleep disorder 9.8
33 left ventricular noncompaction 9.8
34 retinitis 9.8
35 amyloidosis 9.8
36 meningitis 9.8
37 macular corneal dystrophy 9.8
38 corneal dystrophy 9.8
39 cerebrovascular disease 9.7
40 neuronitis 9.7
41 chronic meningitis 9.7
42 end stage renal failure 9.7
43 myopathy 9.7
44 keratopathy 9.7
45 hypohidrosis 9.7
46 priapism 9.7
47 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.7 FUCA1 PSAP
48 follicular dendritic cell sarcoma 9.6
49 retinoschisis 9.6
50 optic neuritis 9.6

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:

54

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

Hematology:
anemia
bone marrow contains lipid-laden macrophages

Skin Nails & Hair- Skin:
angiokeratoma
hypohidrosis

Abdomen- Gastroin testinal:
vomiting
abdominal pain
nausea
episodic diarrhea
tenesmus

Cardiovascular- Heart:
hypertension
congestive heart failure
angina
myocardial infarction
electrocardiographic changes
more
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

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

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)

Muscle Soft Tissue:
muscle cramps
fasciculations
lymphedema

Growth- Other:
delayed puberty
retarded growth

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:

56 32 (show top 50) (show all 79)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
6 hematuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0000790
7 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
8 coarse facial features 56 32 frequent (33%) Frequent (79-30%) HP:0000280
9 angiokeratoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001014
10 hyperlipidemia 56 32 frequent (33%) Frequent (79-30%) HP:0003077
11 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
12 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
13 renal insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0000083
14 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
15 left ventricular hypertrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001712
16 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
17 delayed puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000823
18 hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000962
19 arthritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001369
20 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
21 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
22 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
23 arrhythmia 56 32 Occasional (29-5%) HP:0011675
24 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
25 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
26 congestive heart failure 56 32 hallmark (90%) Very frequent (99-80%) HP:0001635
27 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
28 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
29 nephrotic syndrome 56 32 hallmark (90%) Very frequent (99-80%) HP:0000100
30 achalasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002571
31 atrioventricular block 56 32 frequent (33%) Frequent (79-30%) HP:0001678
32 vertigo 56 32 occasional (7.5%) Occasional (29-5%) HP:0002321
33 diabetes insipidus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000873
34 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
35 hypohidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000966
36 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
37 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
38 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
39 nephropathy 56 32 frequent (33%) Frequent (79-30%) HP:0000112
40 conjunctival telangiectasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000524
41 chronic obstructive pulmonary disease 56 32 occasional (7.5%) Occasional (29-5%) HP:0006510
42 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
43 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
44 mitral regurgitation 56 32 frequent (33%) Frequent (79-30%) HP:0001653
45 anorexia 56 32 frequent (33%) Frequent (79-30%) HP:0002039
46 emphysema 56 32 frequent (33%) Frequent (79-30%) HP:0002097
47 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
48 transient ischemic attack 56 32 hallmark (90%) Very frequent (99-80%) HP:0002326
49 bundle branch block 56 32 frequent (33%) Frequent (79-30%) HP:0011710
50 angina pectoris 56 32 occasional (7.5%) Occasional (29-5%) HP:0001681

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 A4GALT DDC GLA LAMP2 NOS3 PSAP
2 homeostasis/metabolism MP:0005376 9.96 CST3 DDC GLA KCNN4 LAMP2 NAGA
3 cardiovascular system MP:0005385 9.92 NOS3 PSAP TNNI3 CST3 DDC GLA
4 immune system MP:0005387 9.76 A4GALT DDC GLA KCNN4 LAMP2 NOS3
5 muscle MP:0005369 9.5 CST3 GLA KCNN4 LAMP2 NOS3 PSAP
6 renal/urinary system MP:0005367 9.1 DDC GLA KCNN4 NOS3 PSAP UMOD

Drugs & Therapeutics for Fabry Disease

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

(show all 50)
id 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 Neurotransmitter Agents Phase 2
6 Peripheral Nervous System Agents Phase 2
7
Acetylcholine Approved 51-84-3 187
8
Nitroprusside Approved 15078-28-1 11963622
9
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
10
Enalaprilat Approved 76420-72-9 6917719
11
Losartan Approved 114798-26-4 3961
12
Hydroquinone Approved 123-31-9 785
13
Menthol Approved 2216-51-5 16666
14
Tropicamide Approved 1508-75-4 5593
15
Benzocaine Approved 1994-09-7, 94-09-7 2337
16
Coal tar Approved 8007-45-2
17
Ethanol Approved 64-17-5 702
18
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
19
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
20 tannic acid Approved, Nutraceutical
21
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
22
Angiotensin II Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
23 Annexin A5
24 Antibodies
25 Immunoglobulins
26 Fluorodeoxyglucose F18
27 Bone Density Conservation Agents
28 Ergocalciferols
29 Hormones
30 Micronutrients
31 Trace Elements
32 Vitamins
33 Angiotensin II Type 1 Receptor Blockers
34 Angiotensin Receptor Antagonists
35 Angiotensin-Converting Enzyme Inhibitors
36 Angiotensinogen
37 Anti-Arrhythmia Agents
38 Antihypertensive Agents
39 HIV Protease Inhibitors
40
protease inhibitors
41 Autonomic Agents
42 Cholinergic Agents
43 Cholinergic Antagonists
44 Muscarinic Antagonists
45 Mydriatics
46 Ophthalmic Solutions
47 Retinol palmitate
48 Calciferol Nutraceutical
49 Vitamin D2 Nutraceutical
50 retinol Nutraceutical

Interventional clinical trials:

(show top 50) (show all 129)

id 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 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4 Agalsidase beta (recombinant form)
7 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
8 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
9 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
10 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)
11 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
12 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
13 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
14 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
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 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Recruiting NCT01298141 Phase 3
19 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
20 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
21 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
22 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Not yet recruiting NCT03180840 Phase 3
23 Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Not yet recruiting NCT02921620 Phase 3
24 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
25 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
26 Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Completed NCT00075244 Phase 2 Replagal
27 Dosing Study of Replagal in Patients With Fabry Disease Completed NCT00068107 Phase 2 Replagal
28 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
29 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
30 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00196716 Phase 2
31 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed NCT00084084 Phase 2 Agalsidase alfa
32 A Study of AT1001 in Patients With Fabry Disease Completed NCT00214500 Phase 2 AT1001 (migalastat hydrochloride)
33 Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease Completed NCT01196871 Phase 2 AT1001
34 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed NCT01363492 Phase 2
35 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 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 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry Disease Completed NCT00304512 Phase 2 AT1001 (migalastat hydrochloride)
38 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
39 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed NCT01678898 Phase 1, Phase 2 PRX-102
40 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed NCT01304277 Phase 2
41 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
42 An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry Patients Enrolling by invitation NCT01769001 Phase 1, Phase 2 PRX-102
43 Extension Study of PRX-102 for 24 Months Enrolling by invitation NCT01981720 Phase 1, Phase 2 PRX-102
44 Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease Not yet recruiting NCT03228940 Phase 1, Phase 2 RVX000222
45 Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme Terminated NCT00837824 Phase 2
46 Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease Withdrawn NCT01588314 Phase 2 Gabapentin;placebo
47 A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease Completed NCT02930655 Phase 1 Lucerastat;Enzyme replacement therapy (ERT)
48 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal
49 Evaluate the Safety and Exploratory Efficacy of GC1119 Completed NCT01653444 Phase 1 GC1119
50 A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects Completed NCT01853852 Phase 1 GR181413A/AT1001 solution;GR181413A/AT1001 capsule;Placebo capsule

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: fabry disease

Genetic Tests for Fabry Disease

Genetic tests related to Fabry Disease:

id Genetic test Affiliating Genes
1 Fabry Disease 29 24 GLA
2 Fabry Disease, Cardiac Variant 29
3 Angiokeratoma Corporis Diffusum 29

Anatomical Context for Fabry Disease

MalaCards organs/tissues related to Fabry Disease:

39
Skin, Heart, Kidney, Eye, Bone, Endothelial, Lung

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 801)
id Title Authors Year
1
Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study. ( 28409012 )
2017
2
Treatment of Depression in Adults with Fabry Disease. ( 28417336 )
2017
3
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina. ( 28507907 )
2017
4
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. ( 28430823 )
2017
5
Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study. ( 28404798 )
2017
6
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. ( 28723748 )
2017
7
The pathophysiology of Fabry disease. ( 28843599 )
2017
8
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. ( 28943383 )
2017
9
Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease. ( 28382085 )
2017
10
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. ( 28495078 )
2017
11
Conjunctival lymphangiectasia associated with classic Fabry disease. ( 28500230 )
2017
12
The Coexistence of Multiple Myeloma-associated Amyloid Light-chain Amyloidosis and Fabry Disease in a Hemodialysis Patient. ( 28381753 )
2017
13
Fabry Disease: An Uncommon Cause of Renal Failure. ( 28389313 )
2017
14
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. ( 28835480 )
2017
15
Fabry disease and incidence of cancer. ( 28877708 )
2017
16
General Anesthesia and Fabry Disease: A Case Report. ( 28079663 )
2017
17
Fabry Disease: A Rare Condition Emerging From the Darkness. ( 28798027 )
2017
18
Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease. ( 28951772 )
2017
19
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. ( 28082092 )
2017
20
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. ( 28377241 )
2017
21
COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers. ( 28225726 )
2017
22
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. ( 28158561 )
2017
23
The p.Arg118Cys Variant in the GLA Gene Does not Cause Fabry Disease. More Evidence. ( 28941980 )
2017
24
Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease. ( 28794847 )
2017
25
High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper. ( 28384397 )
2017
26
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry. ( 28510034 )
2017
27
Fabry disease in children: a federal screening programme in Russia. ( 28871487 )
2017
28
Diagnosis and treatment of Fabry disease. ( 27912900 )
2017
29
A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation. ( 28166746 )
2017
30
A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women. ( 28892806 )
2017
31
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophya8-a8-a8-a8-a8-a8-a8-a8-. ( 28688718 )
2017
32
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease. ( 28523190 )
2017
33
Metabolic progression to clinical phenotype in classic Fabry disease. ( 28049500 )
2017
34
Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy. ( 28793143 )
2017
35
Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study. ( 28069318 )
2017
36
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes. ( 28798024 )
2017
37
Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis. ( 28386689 )
2017
38
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype. ( 28496025 )
2017
39
Use of RS-fMRI in Fabry disease: Do we need it? ( 28404808 )
2017
40
Prominent regression of corneal deposits in Fabry disease 16A years after initiation of enzyme replacement therapy. ( 28834375 )
2017
41
Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease. ( 28936893 )
2017
42
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27998644 )
2017
43
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports. ( 28499424 )
2017
44
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now. ( 28933368 )
2017
45
Contribution of inflammatory pathways to Fabry disease pathogenesis. ( 28947349 )
2017
46
E-Learning for Rare Diseases: An Example Using Fabry Disease. ( 28946642 )
2017
47
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. ( 28847675 )
2017
48
Pathomechanisms of renal Fabry disease. ( 28401309 )
2017
49
Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period. ( 28470357 )
2017
50
Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model. ( 27531673 )
2016

Variations for Fabry Disease

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

71 (show top 50) (show all 180)
id Symbol AA change Variation ID SNP ID
1 GLA p.Leu32Pro VAR_000431
2 GLA p.Asn34Ser VAR_000432 rs28935192
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 rs28935193
10 GLA p.Glu59Lys VAR_000440
11 GLA p.Glu66Gln VAR_000441 rs28935191
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 rs28935194
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 rs28936082
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 rs28935198
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 188)
id Gene Variation Type Significance SNP ID Assembly Location
1 GLA NM_000169.2(GLA): c.1066C> T (p.Arg356Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894827 GRCh37 Chromosome X, 100653021: 100653021
2 GLA GLA, EX3DEL deletion Pathogenic
3 GLA NM_000169.2(GLA): c.902G> A (p.Arg301Gln) single nucleotide variant Pathogenic rs104894828 GRCh37 Chromosome X, 100653455: 100653455
4 GLA NM_000169.2(GLA): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894829 GRCh37 Chromosome X, 100662761: 100662761
5 GLA NM_000169.2(GLA): c.886A> G (p.Met296Val) single nucleotide variant Pathogenic rs104894830 GRCh37 Chromosome X, 100653471: 100653471
6 GLA GLA, EX4DEL deletion Pathogenic
7 GLA NM_000169.2(GLA): c.118C> T (p.Pro40Ser) single nucleotide variant Pathogenic rs104894831 GRCh37 Chromosome X, 100662774: 100662774
8 GLA GLA, IVS6DS, G-T, +1 single nucleotide variant Pathogenic
9 GLA NM_000169.2(GLA): c.835C> G (p.Gln279Glu) single nucleotide variant Pathogenic rs28935485 GRCh37 Chromosome X, 100653522: 100653522
10 GLA NM_000169.2(GLA): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs104894832 GRCh37 Chromosome X, 100653375: 100653375
11 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh37 Chromosome X, 100662791: 100662791
12 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh37 Chromosome X, 100662726: 100662726
13 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh37 Chromosome X, 100656731: 100656731
14 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh37 Chromosome X, 100656701: 100656701
15 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Pathogenic rs28935196 GRCh37 Chromosome X, 100656683: 100656683
16 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh37 Chromosome X, 100655687: 100655687
17 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh37 Chromosome X, 100653930: 100653930
18 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh37 Chromosome X, 100653551: 100653551
19 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh37 Chromosome X, 100653894: 100653894
20 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh37 Chromosome X, 100653895: 100653895
21 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh37 Chromosome X, 100653783: 100653783
22 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh37 Chromosome X, 100653777: 100653777
23 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh37 Chromosome X, 100653496: 100653496
24 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh37 Chromosome X, 100653467: 100653467
25 GLA GLA, IVS5AS, DEL -2,-3 deletion Pathogenic
26 GLA NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh37 Chromosome X, 100653378: 100653378
27 GLA NM_000169.2(GLA): c.983G> C (p.Gly328Ala) single nucleotide variant Pathogenic rs28935492 GRCh37 Chromosome X, 100653374: 100653374
28 GLA NM_000169.2(GLA): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs104894842 GRCh37 Chromosome X, 100653067: 100653067
29 GLA NM_000169.2(GLA): c.1025G> A (p.Arg342Gln) single nucleotide variant Pathogenic rs28935493 GRCh37 Chromosome X, 100653062: 100653062
30 GLA NM_000169.2(GLA): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs104894843 GRCh37 Chromosome X, 100653063: 100653063
31 GLA NM_000169.2(GLA): c.1081G> C (p.Gly361Arg) single nucleotide variant Pathogenic rs28935494 GRCh37 Chromosome X, 100653006: 100653006
32 GLA NM_000169.2(GLA): c.1192G> T (p.Glu398Ter) single nucleotide variant Pathogenic rs104894844 GRCh37 Chromosome X, 100652895: 100652895
33 GLA NM_000169.2(GLA): c.369+2T> G single nucleotide variant Pathogenic rs387906483 GRCh37 Chromosome X, 100658797: 100658797
34 GLA GLA, 13-BP DEL, NT125 deletion Pathogenic
35 GLA GLA, 1-BP DEL, NT716 deletion Pathogenic
36 GLA GLA, 2-BP DEL, NT773 deletion Pathogenic
37 GLA GLA, 5-BP INS, NT954 insertion Pathogenic
38 GLA GLA, 11-BP DEL, NT1016 deletion Pathogenic
39 GLA GLA, 1-BP INS, NT1040 insertion Pathogenic
40 GLA GLA, 53-BP DEL, NT1123 deletion Pathogenic
41 GLA GLA, 2-BP DEL, NT1176 deletion Pathogenic
42 GLA GLA, 3-BP DEL, 1208AAG deletion Pathogenic
43 GLA GLA, EX1-2DEL deletion Pathogenic
44 GLA GLA, EX3-4DEL deletion Pathogenic
45 GLA GLA, EX3-7DEL deletion Pathogenic
46 GLA GLA, EX6-7DEL deletion Pathogenic
47 GLA GLA, EX2-6DUP duplication Pathogenic
48 GLA NM_000169.2(GLA): c.888G> A (p.Met296Ile) single nucleotide variant Pathogenic rs104894846 GRCh37 Chromosome X, 100653469: 100653469
49 GLA NM_000169.2(GLA): c.58G> C (p.Ala20Pro) single nucleotide variant Pathogenic rs104894847 GRCh37 Chromosome X, 100662834: 100662834
50 GLA NM_000169.2(GLA): c.1147_1149delTTC (p.Phe383del) deletion Pathogenic rs1057519609 GRCh38 Chromosome X, 101397950: 101397952

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.11 FUCA1 GLA LAMP2 NAGA PSAP
2
Show member pathways
10.7 A4GALT GLA NAGA

GO Terms for Fabry Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 A4GALT CST3 DDC FUCA1 GLA LAMP2
2 contractile fiber GO:0043292 9.26 CST3 TNNI3
3 lysosomal lumen GO:0043202 9.26 FUCA1 GLA LAMP2 PSAP
4 lysosome GO:0005764 9.1 CST3 FUCA1 GLA LAMP2 NAGA PSAP

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.65 CST3 FUCA1 GLA LAMP2 PSAP
2 carbohydrate metabolic process GO:0005975 9.54 FUCA1 GLA NAGA
3 glycosphingolipid metabolic process GO:0006687 9.4 GLA PSAP
4 oligosaccharide metabolic process GO:0009311 9.02 GLA
5 glycosylceramide catabolic process GO:0046477 8.85 GLA
6 glycoside catabolic process GO:0016139 8.8 FUCA1 GLA NAGA
7 glycolipid catabolic process GO:0019377 8.65 NAGA

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

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