FD
MCID: FBR012
MIFTS: 69

Fabry Disease (FD) malady

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

Aliases & Classifications for Fabry Disease

Aliases & Descriptions for Fabry Disease:

Name: Fabry Disease 54 12 71 23 50 24 25 51 56 66 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
Fabry's Disease 12 25 29
Gla Deficiency 50 24 25
Ceramide Trihexosidase Deficiency 50 25
Fabry Disease, Cardiac Variant 54 29
Hereditary Dystopic Lipidosis 50 25
Fd 56 66
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 301500
Disease Ontology 12 DOID:14499
ICD10 33 E75.21
MeSH 42 D000795
Orphanet 56 ORPHA324
MESH via Orphanet 43 D000795
UMLS via Orphanet 70 C0002986
ICD10 via Orphanet 34 E75.2
UMLS 69 C0002986

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 arthralgia, fatigue and myalgia. 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 Coal tar and 1-Deoxynojirimycin 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

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.

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

OMIM : 54 Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity... (301500) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... 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 dysautonomia, familial 11.7
5 sphingolipidosis 11.1
6 fibrous dysplasia/mccune-albright syndrome 10.8
7 acquired gastric outlet stenosis 10.2 CST3 NOS3
8 cardiomyopathy 10.2
9 lockwood feingold syndrome 10.2 NAGA PSAP
10 malignant fibrous histiocytoma of bone 10.2 NAGA PSAP
11 nasopharyngeal carcinoma 2 10.2 NAGA PSAP
12 angiokeratoma 10.2
13 intracranial hypotension 10.2 GLA NAGA
14 deafness, autosomal recessive 71 10.2 NAGA PSAP
15 endotheliitis 10.1
16 indeterminate leprosy 10.1 NOS3 TNNI3
17 gaucher disease, type ii 10.1 GLA PSAP
18 vitreous disease 10.1 NOS3 TNNI3
19 spastic paraplegia 34, x-linked 10.1 LAMP2 PRKAG2
20 baraitser-winter syndrome 2 10.0 LAMP2 PRKAG2
21 neuropathy 10.0
22 fucosidosis 10.0 FUCA1 NAGA
23 dyspepsia 10.0
24 fibrous dysplasia 10.0
25 mosaic trisomy 1 10.0 LAMP2 TNNI3
26 aggressive systemic mastocytosis 10.0 FUCA1 GLA NAGA
27 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.9 FUCA1 PSAP
28 kidney disease 9.9
29 cerebritis 9.9
30 retinitis pigmentosa 18 9.9 LAMP2 TNNI3
31 dysautonomia 9.9
32 long qt syndrome 9 9.8 GLA LAMP2 PRKAG2 TNNI3
33 atherosclerosis 9.8
34 sleep disorder 9.8
35 left ventricular noncompaction 9.8
36 retinitis 9.8
37 amyloidosis 9.8
38 meningitis 9.8
39 macular corneal dystrophy 9.7
40 corneal dystrophy 9.7
41 cerebrovascular disease 9.7
42 neuronitis 9.7
43 chronic meningitis 9.7
44 end stage renal failure 9.7
45 keratopathy 9.7
46 hypohidrosis 9.7
47 myopathy 9.7
48 priapism 9.7
49 follicular dendritic cell sarcoma 9.7
50 optic neuritis 9.7

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



Diseases related to Fabry Disease

Symptoms & Phenotypes for Fabry Disease

Symptoms by clinical synopsis from OMIM:

301500

Clinical features from OMIM:

301500

Human phenotypes related to Fabry Disease:

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 myalgia 56 32 Very frequent (99-80%) HP:0003326
4 dyspnea 56 32 Occasional (29-5%) HP:0002094
5 fever 56 32 Occasional (29-5%) HP:0001945
6 seizures 56 32 Occasional (29-5%) HP:0001250
7 vertigo 56 32 Occasional (29-5%) HP:0002321
8 angina pectoris 56 32 Occasional (29-5%) HP:0001681
9 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
10 nausea and vomiting 56 32 Frequent (79-30%) HP:0002017
11 depression 56 32 Occasional (29-5%) HP:0000716
12 hypertension 56 32 Occasional (29-5%) HP:0000822
13 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
14 developmental regression 56 32 Occasional (29-5%) HP:0002376
15 coarse facial features 56 32 Frequent (79-30%) HP:0000280
16 cataract 56 32 Frequent (79-30%) HP:0000518
17 arthritis 56 32 Very frequent (99-80%) HP:0001369
18 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
19 malabsorption 56 32 Very frequent (99-80%) HP:0002024
20 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
21 optic atrophy 56 32 Frequent (79-30%) HP:0000648
22 short stature 56 32 Frequent (79-30%) HP:0004322
23 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
24 renal insufficiency 56 32 Very frequent (99-80%) HP:0000083
25 proteinuria 56 32 Frequent (79-30%) HP:0000093
26 nephropathy 56 32 Frequent (79-30%) HP:0000112
27 delayed puberty 56 32 Frequent (79-30%) HP:0000823
28 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
29 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
30 atrioventricular block 56 32 Frequent (79-30%) HP:0001678
31 emphysema 56 32 Frequent (79-30%) HP:0002097
32 arrhythmia 56 32 Occasional (29-5%) HP:0011675
33 anemia 56 32 Very frequent (99-80%) HP:0001903
34 transient ischemic attack 56 32 Very frequent (99-80%) HP:0002326
35 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
36 thick lower lip vermilion 56 32 Frequent (79-30%) HP:0000179
37 corneal dystrophy 56 32 Very frequent (99-80%) HP:0001131
38 congestive heart failure 56 32 Very frequent (99-80%) HP:0001635
39 abnormality of the aortic valve 56 32 Frequent (79-30%) HP:0001646
40 reduced bone mineral density 56 32 Occasional (29-5%) HP:0004349
41 hypohidrosis 56 32 Very frequent (99-80%) HP:0000966
42 lymphedema 56 32 Occasional (29-5%) HP:0001004
43 anxiety 56 32 Occasional (29-5%) HP:0000739
44 abnormality of the renal tubule 56 32 Frequent (79-30%) HP:0000091
45 nephrotic syndrome 56 32 Very frequent (99-80%) HP:0000100
46 anorexia 56 32 Frequent (79-30%) HP:0002039
47 glomerulopathy 56 32 Occasional (29-5%) HP:0100820
48 conjunctival telangiectasia 56 32 Very frequent (99-80%) HP:0000524
49 hematuria 56 32 Very frequent (99-80%) HP:0000790
50 diabetes insipidus 56 32 Occasional (29-5%) HP:0000873

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 A4GALT CST3 DDC GLA KCNN4 LAMP2
3 cardiovascular system MP:0005385 9.92 CST3 DDC GLA KCNN4 LAMP2 NOS3
4 immune system MP:0005387 9.76 DDC GLA KCNN4 LAMP2 NOS3 PSAP
5 muscle MP:0005369 9.5 NOS3 PSAP TNNI3 CST3 GLA KCNN4
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 49)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 4 8007-45-2
2
1-Deoxynojirimycin Experimental 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
Nitric Oxide Approved Phase 2 10102-43-9 145068
7 Neurotransmitter Agents Phase 2
8 Peripheral Nervous System Agents Phase 2
9 arginine Nutraceutical Phase 2
10
Acetylcholine Approved 51-84-3 187
11
Nitroprusside Approved 15078-28-1 11963622
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 123-31-9 785
16
Menthol Approved 2216-51-5 16666
17
Tropicamide Approved 1508-75-4 5593
18
Ethanol Approved 64-17-5 702
19
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
20
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
21 Annexin A5
22 Antibodies
23 Immunoglobulins
24 Bone Density Conservation Agents
25 Ergocalciferols
26 Hormones
27 Micronutrients
28 Trace Elements
29 vitamin d
30 Vitamins
31
Angiotensin II 68521-88-0, 11128-99-7 65143 172198
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
47 Calciferol Nutraceutical
48 Vitamin D2 Nutraceutical
49 retinol Nutraceutical

Interventional clinical trials:

(show top 50) (show all 123)
id Name Status NCT ID Phase
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
2 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
3 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
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
7 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
8 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
9 Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study Recruiting NCT00455104 Phase 4
10 A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants Recruiting NCT00230607 Phase 4
11 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4
12 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3
13 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3
14 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
15 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
16 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3
17 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3
18 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
19 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
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
22 Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease Available NCT01476163 Phase 3
23 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
24 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Not yet recruiting NCT03018730 Phase 3
25 Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Not yet recruiting 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
27 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2
28 Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Completed NCT00075244 Phase 2
29 Dosing Study of Replagal in Patients With Fabry Disease Completed NCT00068107 Phase 2
30 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2
31 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
32 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00196716 Phase 2
33 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed NCT00084084 Phase 2
34 A Study of AT1001 in Patients With Fabry Disease Completed NCT00214500 Phase 2
35 Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease Completed NCT01196871 Phase 2
36 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed NCT01363492 Phase 2
37 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2
38 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283959 Phase 2
39 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry Disease Completed NCT00304512 Phase 2
40 Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease Completed NCT02228460 Phase 2
41 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed NCT01678898 Phase 1, Phase 2
42 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed NCT01304277 Phase 2
43 Effectiveness of Arginine as a Treatment for Sickle Cell Anemia Completed NCT00513617 Phase 2
44 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
45 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
46 Extension Study of PRX-102 for 24 Months Enrolling by invitation NCT01981720 Phase 1, Phase 2
47 Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme Terminated NCT00837824 Phase 2
48 Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease Withdrawn NCT01588314 Phase 2
49 A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease Completed NCT02930655 Phase 1
50 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1

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, Endothelial, Testes, Bone

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 778)
id Title Authors Year
1
Fabry Disease: An Uncommon Cause of Renal Failure. ( 28389313 )
2017
2
Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease. ( 28382085 )
2017
3
The Coexistence of Multiple Myeloma-associated Amyloid Light-chain Amyloidosis and Fabry Disease in a Hemodialysis Patient. ( 28381753 )
2017
4
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
5
Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study. ( 28069318 )
2017
6
Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis. ( 28386689 )
2017
7
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
8
Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study. ( 28409012 )
2017
9
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
10
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. ( 28082092 )
2017
11
Conjunctival lymphangiectasia associated with classic Fabry disease. ( 28500230 )
2017
12
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. ( 28495078 )
2017
13
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports. ( 28499424 )
2017
14
COMPUTER ASSISTED RETINAL VESSEL TORTUOSITY EVALUATION IN NOVEL MUTATION FABRY DISEASE: Towards New Prognostic Markers. ( 28225726 )
2017
15
Metabolic progression to clinical phenotype in classic Fabry disease. ( 28049500 )
2017
16
Pathomechanisms of renal Fabry disease. ( 28401309 )
2017
17
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease. ( 28523190 )
2017
18
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27998644 )
2017
19
General Anesthesia and Fabry Disease: A Case Report. ( 28079663 )
2017
20
High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper. ( 28384397 )
2017
21
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. ( 28377241 )
2017
22
Treatment of Depression in Adults with Fabry Disease. ( 28417336 )
2017
23
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. ( 28430823 )
2017
24
Diagnosis and treatment of Fabry disease. ( 27912900 )
2017
25
Use of RS-fMRI in Fabry disease: Do we need it? ( 28404808 )
2017
26
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype. ( 28496025 )
2017
27
Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study. ( 28404798 )
2017
28
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina. ( 28507907 )
2017
29
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. ( 27554049 )
2016
30
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer. ( 27595546 )
2016
31
Fabry disease: will markers of early disease enable early treatment and better outcomes? ( 27205888 )
2016
32
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations. ( 27916943 )
2016
33
Kidney transplantation from a mother with unrecognized Fabry disease to her son with low I+-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy. ( 26971403 )
2016
34
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. ( 27931613 )
2016
35
Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review. ( 27184961 )
2016
36
GLA-Ring Opportunities and Challenges for Fabry Disease. ( 27931614 )
2016
37
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening. ( 27576502 )
2016
38
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry. ( 27510433 )
2016
39
Progression of obstructive ventilatory disorder in Fabry disease: Only a matter of time? ( 27860307 )
2016
40
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey. ( 27105876 )
2016
41
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development. ( 27145802 )
2016
42
A Subtle Presentation of Fabry Disease. ( 27660943 )
2016
43
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. ( 27992580 )
2016
44
Angiokeratoma corporis diffusum (Fabry disease) - A case report. ( 27727956 )
2016
45
Bleeding Angiokeratomas in Fabry Disease Treated With Argon Plasma Coagulation. ( 27060427 )
2016
46
Multiple parapelvic cysts in Fabry disease. ( 27061865 )
2016
47
One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. ( 27081853 )
2016
48
Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation. ( 28090261 )
2016
49
Fabry Disease: A Disorder of Childhood Onset. ( 27555236 )
2016
50
Impaired Left Atrial Function in Fabry Disease: A Longitudinal Speckle-Tracking Echocardiography Study. ( 27939050 )
2016

Variations for Fabry Disease

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

66 (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
8 GLA p.Cys56Phe VAR_000438
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
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
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
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
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
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 189)
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 NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh37 Chromosome X, 100653378: 100653378
26 GLA NM_000169.2(GLA): c.983G> C (p.Gly328Ala) single nucleotide variant Pathogenic rs28935492 GRCh37 Chromosome X, 100653374: 100653374
27 GLA NM_000169.2(GLA): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs104894842 GRCh37 Chromosome X, 100653067: 100653067
28 GLA NM_000169.2(GLA): c.1025G> A (p.Arg342Gln) single nucleotide variant Pathogenic rs28935493 GRCh37 Chromosome X, 100653062: 100653062
29 GLA NM_000169.2(GLA): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs104894843 GRCh37 Chromosome X, 100653063: 100653063
30 GLA NM_000169.2(GLA): c.1081G> C (p.Gly361Arg) single nucleotide variant Pathogenic rs28935494 GRCh37 Chromosome X, 100653006: 100653006
31 GLA NM_000169.2(GLA): c.1192G> T (p.Glu398Ter) single nucleotide variant Pathogenic rs104894844 GRCh37 Chromosome X, 100652895: 100652895
32 GLA NM_000169.2(GLA): c.369+2T> G single nucleotide variant Pathogenic rs387906483 GRCh37 Chromosome X, 100658797: 100658797
33 GLA GLA, IVS5AS, DEL -2,-3 deletion Pathogenic
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 9.35 CST3 FUCA1 GLA LAMP2 PSAP
2 carbohydrate metabolic process GO:0005975 9.33 FUCA1 GLA NAGA
3 glycosphingolipid metabolic process GO:0006687 9.26 GLA PSAP
4 glycoside catabolic process GO:0016139 8.8 FUCA1 GLA 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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