FD
MCID: FBR012
MIFTS: 71

Fabry Disease (FD)

Categories: Cardiovascular diseases, 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 73 25 20 43 53 58 72 36 29 13 54 6 44 15 70
Alpha-Galactosidase a Deficiency 57 12 25 20 43 58
Angiokeratoma Corporis Diffusum 57 12 20 43 58
Anderson-Fabry Disease 57 25 20 43 58
Fabry's Disease 12 73 43 39
Ceramide Trihexosidase Deficiency 57 20 43
Fabry Disease, Cardiac Variant 57 29 6
Hereditary Dystopic Lipidosis 57 20 43
Gla Deficiency 57 20 43
Fd 58 72
Alpha Galactosidase Deficiency 12
Deficiency of Melibiase 12
Angiokeratoma, Diffuse 20
Angiokeratoma Diffuse 43
Diffuse Angiokeratoma 58

Characteristics:

Orphanet epidemiological data:

58
fabry disease
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
fabry disease:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Fabry Disease

GARD : 20 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 hypertrophic cardiomyopathy and atrial standstill 1, 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 Antibodies have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are corneal opacity and arthritis

Disease Ontology : 12 A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has material basis in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.

MedlinePlus Genetics : 43 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 or streaks in the front part of the eye (corneal opacity or corneal verticillata); 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) (Updated 05-Apr-2021)

NINDS : 53 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.

KEGG : 36 Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.

UniProtKB/Swiss-Prot : 72 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 : 73 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 485)
# Related Disease Score Top Affiliating Genes
1 hypertrophic cardiomyopathy 31.2 TNNI3 RPL36A-HNRNPH2 PRKAG2 NOS3 LAMP2 GLA
2 atrial standstill 1 31.1 TNNI3 RPL36A-HNRNPH2 PRKAG2 LAMP2 GLA
3 chronic kidney disease 31.1 UMOD TNNI3 NOS3 GLA CST3
4 angiokeratoma 31.0 UGCG PRKAG2 NAGA GLA FUCA1
5 glycoproteinosis 30.8 PSAP NAGA LAMP1
6 galactosialidosis 30.5 PSAP M6PR CHIT1
7 lysosomal storage disease 30.5 PSAP NAGA M6PR GUSB GLA GBA
8 gangliosidosis 30.2 UGCG PSAP CHIT1
9 sphingolipidosis 30.1 UGCG PSAP PRKAG2 NAGA M6PR LAMP2
10 coronary artery vasospasm 30.0 TNNI3 NOS3
11 niemann-pick disease, type c1 29.9 UGCG PSAP NAGA LAMP2 LAMP1
12 metachromatic leukodystrophy 29.8 PSAP M6PR GLA
13 fucosidosis 29.8 NAGA FUCA1 CHIT1
14 glycogen storage disease ii 29.8 PRKAG2 M6PR LAMP2
15 cardiomyopathy, familial hypertrophic, 1 29.7 TNNI3 RPL36A-HNRNPH2 PRKAG2 LAMP2 GLA
16 mucolipidosis 29.7 SORT1 PSAP M6PR LAMP2 LAMP1
17 lipid storage disease 29.4 UGCG PSAP GLA GBA CHIT1
18 gaucher's disease 29.3 UGCG PSAP M6PR LAMP2 LAMP1 GUSB
19 scheie syndrome 29.2 LAMP1 GUSB GLA GBA FUCA1
20 mucopolysaccharidosis, type ii 29.2 M6PR LAMP2 GUSB GLA GBA
21 gm1 gangliosidosis 29.0 UGCG PSAP M6PR GLA GBA CHIT1
22 mucopolysaccharidosis-plus syndrome 28.8 M6PR LAMP2 LAMP1 GUSB GLA GBA
23 tay-sachs disease 28.6 UGCG PSAP NAGA M6PR GLA GBA
24 niemann-pick disease 28.5 UGCG PSAP M6PR LAMP1 GLA GBA
25 schindler disease 11.8
26 angiokeratoma corporis diffusum with arteriovenous fistulas 11.7
27 kanzaki disease 11.7
28 schindler disease, type i 11.4
29 proteinuria, chronic benign 10.9
30 anhidrosis 10.8
31 end stage renal disease 10.7
32 cerebrovascular disease 10.7
33 neuropathy 10.6
34 mannosidosis, beta a, lysosomal 10.5
35 erythermalgia, primary 10.5
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
37 kidney disease 10.5
38 peripheral nervous system disease 10.5
39 neuroaxonal dystrophy 10.5
40 stroke, ischemic 10.4
41 aspartylglucosaminuria 10.4
42 sensorineural hearing loss 10.4
43 vascular disease 10.4
44 amyloidosis 10.4
45 lysosomal disease 10.4
46 diarrhea 10.4
47 inherited metabolic disorder 10.4
48 cardiac conduction defect 10.3
49 diastolic heart failure 10.3 TNNI3 NOS3 CST3
50 phosphatase, acid, of tissues 10.3 LAMP2 LAMP1

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



Diseases related to Fabry Disease

Symptoms & Phenotypes for Fabry Disease

Human phenotypes related to Fabry Disease:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
2 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
3 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
6 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
7 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
8 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
9 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
10 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
11 conjunctival telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000524
12 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
13 angiokeratoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001014
14 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
15 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
16 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
17 transient ischemic attack 58 31 hallmark (90%) Very frequent (99-80%) HP:0002326
18 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
19 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
20 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
21 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
22 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
23 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
24 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
25 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
26 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
27 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
28 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
29 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
30 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
31 abnormal aortic valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001646
32 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
33 abnormal renal tubule morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000091
34 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
35 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
36 emphysema 58 31 frequent (33%) Frequent (79-30%) HP:0002097
37 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
38 bundle branch block 58 31 frequent (33%) Frequent (79-30%) HP:0011710
39 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
40 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
41 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
42 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
43 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
44 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
45 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
46 lymphedema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001004
47 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
48 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
49 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
50 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
autonomic dysfunction
transient ischemic attacks
strokes

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

Muscle Soft Tissue:
lymphedema
fasciculations
muscle cramps

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

Cardiovascular Vascular:
vessel ectasia

Skeletal Hands:
limited extension of terminal joints

Cardiovascular Heart:
hypertension
congestive heart failure
myocardial infarction
ventricular septal hypertrophy
angina
more
Growth Other:
delayed puberty
retarded growth

Hematology:
anemia
bone marrow contains lipid-laden macrophages

Skin Nails Hair Skin:
hypohidrosis
angiokeratoma

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

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

Clinical features from OMIM®:

301500 (Updated 05-Apr-2021)

UMLS symptoms related to Fabry Disease:


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

GenomeRNAi Phenotypes related to Fabry Disease according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.78 LAMP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 LAMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 LAMP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.78 LAMP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.78 LAMP2 UGCG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.78 LAMP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.78 LAMP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.78 LAMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.78 LAMP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.78 LAMP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.78 LAMP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.78 UGCG
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 LAMP1 LAMP2 PSAP UGCG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.78 LAMP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 LAMP2 PSAP
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 LAMP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 LAMP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.78 LAMP2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.78 LAMP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.78 UGCG
24 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.78 LAMP2

MGI Mouse Phenotypes related to Fabry Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 A4GALT FUCA1 GBA GLA GUSB LAMP2
2 homeostasis/metabolism MP:0005376 10.22 A4GALT CST3 FUCA1 GBA GLA GUSB
3 cardiovascular system MP:0005385 10.18 CST3 FUCA1 GBA GLA LAMP2 M6PR
4 cellular MP:0005384 10.18 CST3 FUCA1 GBA GLA GUSB LAMP1
5 mortality/aging MP:0010768 10.07 A4GALT CST3 GBA GLA GUSB LAMP1
6 muscle MP:0005369 9.76 CST3 GLA LAMP2 NOS3 PRKAG2 PSAP
7 nervous system MP:0003631 9.7 CST3 FUCA1 GBA GLA LAMP1 LAMP2
8 renal/urinary system MP:0005367 9.28 FUCA1 GLA GUSB M6PR NOS3 PSAP

Drugs & Therapeutics for Fabry Disease

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 3 8007-45-2
2 Antibodies Phase 1, Phase 2
3 Immunoglobulins Phase 1, Phase 2
4 Antibodies, Blocking Phase 1, Phase 2
5
1-Deoxynojirimycin Investigational Phase 1 19130-96-2 1374
6 Anti-Infective Agents Phase 1
7 Antiviral Agents Phase 1
8
Ethanol Approved 64-17-5 702
9
Acetylcholine Approved, Investigational 51-84-3 187
10
Nitroprusside Approved, Investigational 15078-28-1 11963622
11
Angiotensin II Approved, Investigational 68521-88-0, 11128-99-7, 4474-91-3 172198
12
Enalaprilat Approved 76420-72-9 6917719
13
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
14
Losartan Approved 114798-26-4 3961
15
Parathyroid hormone Approved, Investigational 9002-64-6
16
Tropicamide Approved, Investigational 1508-75-4 5593
17
tannic acid Approved 1401-55-4
18
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
19
Dronabinol Approved, Illicit 1972-08-3 16078
20
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
21 Annexin A5
22 Angiotensin Receptor Antagonists
23 Giapreza
24 Angiotensin II Type 1 Receptor Blockers
25 Angiotensin-Converting Enzyme Inhibitors
26
protease inhibitors
27 Angiotensinogen
28 Antihypertensive Agents
29 HIV Protease Inhibitors
30 Anti-Arrhythmia Agents
31 Fluorodeoxyglucose F18
32 Hormones
33 Ophthalmic Solutions
34 Mydriatics
35 Muscarinic Antagonists
36 Cholinergic Agents
37 Cholinergic Antagonists
38 retinol
39 Retinol palmitate
40 Vitamins
41 Mitogens
42 Anesthetics, Local
43 Anesthetics
44 Epidiolex
45 Parasympatholytics
46 Complement System Proteins
47 Immunologic Factors

Interventional clinical trials:

(show top 50) (show all 168)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Phase 4, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Recombinant Alpha-Galactosidase A (Agalsidase Beta, FABRAZYME) in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 A Multicenter Open-label Study of the Safety and Efficacy of α-galactosidase A (R-h α-GAL) Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
3 An Open Label Six-Month Maintenance Clinical Trial of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Who Have Completed TKT027 Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
4 Multi-Center, Open-Label Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease That Previously Participated in the AGAL-008-00 Study Completed NCT00081497 Phase 4
5 Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of Fabrazyme on Progression of Renal Disease and Significant Clinical Events in Patients With 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 Evaluation of Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta (The INFORM Study) Completed NCT01650779 Phase 4
8 A Multicenter, Multinational Study of the Effects of Fabrazyme (Agalsidase Beta) Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
9 A Randomized, Open-label, Active Comparator, 2-arm, Prospective Study to Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease Withdrawn NCT04143958 Phase 4 agalsidase beta (GZ419828);agalsidase alfa
10 A Multicenter, Open-Label, Cross-Over Trial to Evaluate the Pharmacokinetics of Fabrazyme During Simultaneous Fabrazyme Infusion and Chronic Hemodialysis in Patients With Fabry Disease. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
11 A Randomized, Open-Label Study to Compare the Efficacy and Safety of AT1001 and Enzyme Replacement Therapy (ERT) in Patients With Fabry Disease and AT1001-Responsive GLA Mutations, Who Were Previously Treated With ERT Completed NCT01218659 Phase 3 migalastat hydrochloride
12 An Open-label Extension of Study TKT028 Evaluating Safety and Clinical Outcomes of Replagal® Enzyme Replacement Therapy Administered to Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
13 An Open Label Study of the Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Completed NCT03018730 Phase 3
14 A Multi-center, Open-Label Extension Study of the Safety and Efficacy of Recombinant Human a-Galactosidase A (r-haGAL) Replacement in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
15 An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA Variants Completed NCT03500094 Phase 3 migalastat HCl 150 mg
16 A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Fabrazyme (Agalsidase Beta) in Treatment-Naïve Male Pediatric Patients With Fabry Disease Without Severe Symptoms Completed NCT00701415 Phase 3
17 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety and Pharmacodynamics of AT1001 in Patients With Fabry Disease and AT1001-Responsive GLA Mutations Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
18 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
19 A Multi-Center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients With Fabry Disease Completed NCT00864851 Phase 3
20 An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease Completed NCT02194985 Phase 3 migalastat HCl 150 mg
21 A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease Recruiting NCT03737214 Phase 3 Lucerastat
22 Phase 3, Open-Label, Switch Over Study to Assess Safety, Efficacy & PK of Pegunigalsidase Alfa 2 mg/kg Administered Every 4 Weeks for 52 Weeks in Fabry Disease Patients Currently Treated With Enzyme Replacement Therapy: Fabrazyme® (Agalsidase Beta) or Replagal™ (Agalsidase Alfa) Active, not recruiting NCT03180840 Phase 3
23 A Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase Beta Active, not recruiting NCT02795676 Phase 3
24 A Multicenter, dOuble-blind, ranDomized, Placebo-controlled, Parallel-group Study to Determine the effIcacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With FabrY Disease Active, not recruiting NCT03425539 Phase 3 Lucerastat;Placebo
25 A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants Active, not recruiting NCT04049760 Phase 3 migalastat HCl 150 mg
26 Open Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry Disease Enrolling by invitation NCT03614234 Phase 3
27 Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease Enrolling by invitation NCT03566017 Phase 3
28 An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Fabry Subjects With Amenable GLA Variants and Severe Renal Impairment Not yet recruiting NCT04020055 Phase 3 migalastat HCl 150 mg
29 An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease Terminated NCT01458119 Phase 3 migalastat hydrochloride
30 A Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Patients Withdrawn NCT02921620 Phase 3
31 An Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry Disease Unknown status NCT03228940 Phase 1, Phase 2 RVX000222
32 A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
33 An Open-label Phase 2A Study to Investigate Drug-Drug Interactions Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Subjects With Fabry Disease Completed NCT01196871 Phase 2 Migalastat HCl
34 Study of Weekly Dosing Regimens of Replagal in Patients With Fabry Disease With Incomplete Clinical Response to Long-Term Therapy Completed NCT00068107 Phase 2 Replagal
35 A Phase 2, Open-Label, Multiple Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Female Patients With Fabry Disease Completed NCT00304512 Phase 2 migalastat HCl
36 A Phase 2, Open-Label, Single Dose Level, 12-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease Completed NCT00283959 Phase 2 migalastat HCl
37 A Phase 2, Open-Label, Single Dose Level, 24-Week Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2 migalastat HCl
38 An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry Disease Completed NCT02489344 Phase 2 GZ/SAR402671
39 A Phase 2, Open-Label, Multicenter, 12-Week Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AT1001 in Patients With Fabry Disease Completed NCT00214500 Phase 2 migalastat HCl
40 A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease Completed NCT00196716 Phase 2
41 An Open Label Clinical Trial of Replagal Enzyme Replacement Therapy In Children With Fabry Disease Who Have Completed Study TKT023 or Who Are Naive to Enzyme Replacement Therapy Completed NCT00084084 Phase 2 Agalsidase alfa
42 A Phase I-II Pharmacokinetic/Pharmacodynamic Study of Replagal to Assess the Effects of Alternative Dose and Regimen in Patients With Fabry Disease Completed NCT00075244 Phase 2 Replagal
43 A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
44 A Safety and Pharmacokinetic Study of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT00048906 Phase 2 DRX005B
45 A Phase II Comparability Study Between Replagal® Produced From Agalsidase Alfa Manufactured by 2 Different Processes in Adult Male Patients With Fabry Disease Completed NCT01304277 Phase 2
46 A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed With Fabry Disease Completed NCT02228460 Phase 2 GZ/SAR402671
47 An Open-Label Clinical Trial of Replagal® Enzyme Replacement Therapy in Children With Fabry Disease Who Are Naive to Enzyme Replacement Therapy Completed NCT01363492 Phase 2
48 A Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Months to Adult Fabry Patients Completed NCT01678898 Phase 1, Phase 2 PRX-102
49 An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adult Males With Classic Fabry Disease Recruiting NCT04519749 Phase 1, Phase 2
50 FAB-GT An Open-Label, Multinational Study Of The Efficacy And Safety Of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-01 For Treatment-Naive Subjects With Classic Fabry Disease (FAB-GT) Recruiting NCT03454893 Phase 1, Phase 2 AVR-RD-01

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


agalsidase beta

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:

40
Heart, Kidney, Eye, Endothelial, Skin, Bone, Brain

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 3314)
# Title Authors PMID Year
1
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. 25 6 57 61
18287059 2008
2
High incidence of later-onset fabry disease revealed by newborn screening. 57 6 25 61
16773563 2006
3
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. 25 61 57 6
11804208 2001
4
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. 61 25 57 6
9883849 1999
5
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. 25 6 57 61
2160973 1990
6
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 61 6 57 25
2539398 1989
7
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. 57 61 6 54
18023222 2008
8
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. 6 61 54 57
10208848 1999
9
Diagnostic strategy for females suspected of Fabry disease. 57 6 61
31860127 2020
10
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. 61 6 57
17224688 2007
11
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. 61 6 57
16533976 2006
12
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. 25 57 54 61
16298216 2005
13
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. 25 54 6 61
15776423 2005
14
Remarkable variability in renal disease in a large Slovenian family with Fabry disease. 6 61 57
15162124 2004
15
Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions. 61 57 6
11531972 2001
16
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. 6 57 61
11179018 2001
17
Pulmonary involvement in Fabry disease. 61 57 6
9116979 1997
18
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. 6 57 61
8931708 1996
19
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. 61 6 57
8738659 1996
20
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. 61 6 57
8807334 1996
21
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. 61 6 57
7911050 1994
22
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 6 57 61
7504405 1993
23
Mutation analysis in patients with the typical form of Anderson-Fabry disease. 6 57 61
8395937 1993
24
X-chromosome inactivation in female patients with Fabry disease. 61 25 6
25974833 2016
25
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 61 25 6
26415523 2016
26
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease. 25 61 6
27560961 2016
27
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. 25 6 61
25900714 2015
28
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. 25 61 57
25795794 2015
29
Thromboembolic events in Fabry disease and the impact of factor V Leiden. 25 6 61
25663229 2015
30
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. 25 6 61
25468652 2015
31
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. 25 61 6
25149322 2015
32
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. 61 25 6
25955246 2015
33
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry. 57 61 25
23703683 2013
34
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT. 61 6 25
23430526 2013
35
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. 25 6 61
22227322 2012
36
Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. 61 25 57
19745746 2009
37
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. 61 6 25
20031620 2009
38
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. 61 57 25
19473999 2009
39
Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. 25 61 6
17656478 2007
40
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 25 57 61
16980809 2006
41
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. 6 25 61
16148726 2005
42
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. 61 25 57
12911529 2003
43
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. 61 6 25
12796853 2003
44
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 61 25 6
11914245 2002
45
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 6 57
11889412 2002
46
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. 61 25 57
11732485 2001
47
Enzyme replacement therapy in Fabry disease: a randomized controlled trial. 61 57 25
11386930 2001
48
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. 61 25 6
10916280 2000
49
An atypical variant of Fabry's disease in men with left ventricular hypertrophy. 6 57
7596372 1995
50
An atypical variant of Fabry's disease with manifestations confined to the myocardium. 6 57
1846223 1991

Variations for Fabry Disease

ClinVar genetic disease variations for Fabry Disease:

6 (show top 50) (show all 426)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) SNV Benign/Likely benign, other 10738 rs28935490 GRCh37: X:100653420-100653420
GRCh38: X:101398432-101398432
2 RPL36A-HNRNPH2 , GLA NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del Deletion Pathogenic 523927 rs1555987215 GRCh37: X:100662866-100662866
GRCh38: X:101407878-101407878
3 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.901C>G (p.Arg301Gly) SNV Pathogenic 179546 rs398123224 GRCh37: X:100653456-100653456
GRCh38: X:101398468-101398468
4 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) SNV Pathogenic 222145 rs869312227 GRCh37: X:100652969-100652969
GRCh38: X:101397981-101397981
5 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) SNV Pathogenic 546086 rs1555984869 GRCh37: X:100653069-100653069
GRCh38: X:101398081-101398081
6 GLA NC_000023.11:g.101398823_101398824ins(300) Insertion Pathogenic 974834 GRCh37:
GRCh38:
7 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.748C>T (p.Gln250Ter) SNV Pathogenic 92566 rs398123221 GRCh37: X:100653826-100653826
GRCh38: X:101398838-101398838
8 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.679C>T (p.Arg227Ter) SNV Pathogenic 10733 rs104894841 GRCh37: X:100653895-100653895
GRCh38: X:101398907-101398907
9 RPL36A-HNRNPH2 , GLA NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] Microsatellite Pathogenic 92538 rs398123198 GRCh37: X:100653053-100653054
GRCh38: X:101398065-101398066
10 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.801G>A (p.Met267Ile) SNV Pathogenic 180842 rs730880451 GRCh37: X:100653773-100653773
GRCh38: X:101398785-101398785
11 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.707G>A (p.Trp236Ter) SNV Pathogenic 245967 rs879254022 GRCh37: X:100653867-100653867
GRCh38: X:101398879-101398879
12 RPL36A-HNRNPH2 , GLA NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del Deletion Pathogenic 222371 rs869312389 GRCh37: X:100653855-100653856
GRCh38: X:101398867-101398868
13 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.901C>T (p.Arg301Ter) SNV Pathogenic 92570 rs398123224 GRCh37: X:100653456-100653456
GRCh38: X:101398468-101398468
14 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.713G>A (p.Ser238Asn) SNV Pathogenic 180841 rs730880450 GRCh37: X:100653861-100653861
GRCh38: X:101398873-101398873
15 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1072_1074del (p.Glu358del) Deletion Pathogenic 180844 rs730880453 GRCh37: X:100653013-100653015
GRCh38: X:101398025-101398027
16 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.751G>T (p.Glu251Ter) SNV Pathogenic 929199 GRCh37: X:100653823-100653823
GRCh38: X:101398835-101398835
17 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.169C>T (p.Gln57Ter) SNV Pathogenic 222188 GRCh37: X:100662723-100662723
GRCh38: X:101407735-101407735
18 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.723dup (p.Ile242fs) Duplication Pathogenic 222373 GRCh37: X:100653850-100653851
GRCh38: X:101398862-101398863
19 RPL36A-HNRNPH2 , GLA NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del Deletion Pathogenic 222420 GRCh37: X:100653551-100653554
GRCh38: X:101398563-101398566
20 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.962A>G (p.Gln321Arg) SNV Pathogenic 928722 GRCh37: X:100653395-100653395
GRCh38: X:101398407-101398407
21 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.894T>A (p.Asn298Lys) SNV Pathogenic 928732 GRCh37: X:100653463-100653463
GRCh38: X:101398475-101398475
22 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.128G>T (p.Gly43Val) SNV Pathogenic 928954 GRCh37: X:100662764-100662764
GRCh38: X:101407776-101407776
23 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.406G>T (p.Asp136Tyr) SNV Pathogenic 928956 GRCh37: X:100656761-100656761
GRCh38: X:101401773-101401773
24 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.734G>A (p.Trp245Ter) SNV Pathogenic 92564 rs398123220 GRCh37: X:100653840-100653840
GRCh38: X:101398852-101398852
25 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.801+3A>G SNV Pathogenic 197639 rs797044748 GRCh37: X:100653770-100653770
GRCh38: X:101398782-101398782
26 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.668G>A (p.Cys223Tyr) SNV Pathogenic 222364 GRCh37: X:100653906-100653906
GRCh38: X:101398918-101398918
27 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.782G>A (p.Gly261Asp) SNV Pathogenic 977728 GRCh37: X:100653792-100653792
GRCh38: X:101398804-101398804
28 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.350T>G (p.Ile117Ser) SNV Pathogenic 981060 GRCh37: X:100658818-100658818
GRCh38: X:101403830-101403830
29 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.547G>A (p.Gly183Ser) SNV Pathogenic 222281 rs869312324 GRCh37: X:100656620-100656620
GRCh38: X:101401632-101401632
30 RPL36A-HNRNPH2 , GLA NC_000023.11:g.(?_101397790)_(101398947_101400665)del Deletion Pathogenic 982012 GRCh37: X:100652778-100655653
GRCh38:
31 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.370-532_1278del Deletion Pathogenic 982018 GRCh37: X:100652809-100657329
GRCh38: X:101397821-101402341
32 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.646dup (p.Tyr216fs) Duplication Pathogenic 992221 GRCh37: X:100653927-100653928
GRCh38: X:101398939-101398940
33 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.1046G>A (p.Trp349Ter) SNV Pathogenic 992222 GRCh37: X:100653041-100653041
GRCh38: X:101398053-101398053
34 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.559_560del (p.Met187fs) Deletion Pathogenic 992230 GRCh37: X:100655733-100655734
GRCh38: X:101400745-101400746
35 RPL36A-HNRNPH2 , GLA NM_000169.3(GLA):c.136C>T (p.His46Tyr) SNV Pathogenic 992237 GRCh37: X:100662756-100662756
GRCh38: X:101407768-101407768
36 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.797A>T (p.Asp266Val) SNV Pathogenic 10735 rs28935487 GRCh37: X:100653777-100653777
GRCh38: X:101398789-101398789
37 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.118C>T (p.Pro40Ser) SNV Pathogenic 10719 rs104894831 GRCh37: X:100662774-100662774
GRCh38: X:101407786-101407786
38 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.791A>T (p.Asp264Val) SNV Pathogenic 10734 rs28935486 GRCh37: X:100653783-100653783
GRCh38: X:101398795-101398795
39 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) SNV Pathogenic 10741 rs104894842 GRCh37: X:100653067-100653067
GRCh38: X:101398079-101398079
40 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) SNV Pathogenic 10743 rs104894843 GRCh37: X:100653063-100653063
GRCh38: X:101398075-101398075
41 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) SNV Pathogenic 10745 rs104894844 GRCh37: X:100652895-100652895
GRCh38: X:101397907-101397907
42 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.485G>A (p.Trp162Ter) SNV Pathogenic 196226 rs727504350 GRCh37: X:100656682-100656682
GRCh38: X:101401694-101401694
43 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.830G>A (p.Trp277Ter) SNV Pathogenic 280973 rs886044766 GRCh37: X:100653527-100653527
GRCh38: X:101398539-101398539
44 RPL36A-HNRNPH2 , GLA NM_001199973.2(RPL36A-HNRNPH2):c.300+2586_300+2587del Deletion Pathogenic 495690 rs1555984840 GRCh37: X:100653031-100653032
GRCh38: X:101398043-101398044
45 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1225C>G (p.Pro409Ala) SNV Pathogenic 495691 rs878853698 GRCh37: X:100652862-100652862
GRCh38: X:101397874-101397874
46 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.2T>C (p.Met1Thr) SNV Pathogenic 495694 rs1555987232 GRCh37: X:100662890-100662890
GRCh38: X:101407902-101407902
47 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.658C>T (p.Arg220Ter) SNV Pathogenic 167140 rs727503949 GRCh37: X:100653916-100653916
GRCh38: X:101398928-101398928
48 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) SNV Pathogenic 222172 rs112341092 GRCh37: X:100652843-100652843
GRCh38: X:101397855-101397855
49 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.805G>A (p.Val269Met) SNV Pathogenic 222421 rs869312427 GRCh37: X:100653552-100653552
GRCh38: X:101398564-101398564
50 RPL36A-HNRNPH2 , GLA NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) SNV Pathogenic 495689 rs869312214 GRCh37: X:100653066-100653066
GRCh38: X:101398078-101398078

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

72 (show top 50) (show all 180)
# Symbol AA change Variation ID SNP ID
1 GLA p.Leu32Pro VAR_000431 rs156930616
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 rs156930489
14 GLA p.Leu89Arg VAR_000444 rs156930488
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 rs155598517
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

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:

36
# 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
Show member pathways
11.86 UGCG PSAP GLA GBA
2 11.43 SORT1 PSAP NAGA M6PR LAMP2 LAMP1
3
Show member pathways
10.7 NAGA GLA A4GALT
4 10.51 GBA 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 space GO:0005615 10.08 UMOD PSAP PRKAG2 LAMP2 GUSB GBA
2 extracellular exosome GO:0070062 9.96 UMOD PSAP NAGA LAMP2 LAMP1 GUSB
3 Golgi apparatus GO:0005794 9.92 UGCG SORT1 NOS3 M6PR GLA GBA
4 late endosome GO:0005770 9.67 PSAP M6PR LAMP2 LAMP1
5 azurophil granule lumen GO:0035578 9.63 GUSB GLA FUCA1
6 lysosomal membrane GO:0005765 9.63 SORT1 PSAP M6PR LAMP2 LAMP1 GBA
7 azurophil granule membrane GO:0035577 9.58 PSAP LAMP2 LAMP1
8 autolysosome GO:0044754 9.43 LAMP2 LAMP1
9 lysosomal lumen GO:0043202 9.43 PSAP LAMP2 GUSB GLA GBA FUCA1
10 lysosome GO:0005764 9.36 SORT1 PSAP NAGA M6PR LAMP2 LAMP1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 UMOD UGCG PSAP PRKAG2 GBA A4GALT
2 carbohydrate metabolic process GO:0005975 9.77 NAGA GUSB GLA FUCA1 CHIT1
3 sphingolipid metabolic process GO:0006665 9.63 UGCG PSAP GBA
4 glycosphingolipid metabolic process GO:0006687 9.56 UGCG PSAP GLA GBA
5 oligosaccharide metabolic process GO:0009311 9.54 NAGA GLA
6 lysosomal transport GO:0007041 9.52 PSAP M6PR
7 protein targeting to lysosome GO:0006622 9.51 SORT1 M6PR
8 Golgi to lysosome transport GO:0090160 9.49 SORT1 LAMP1
9 establishment of protein localization to organelle GO:0072594 9.48 LAMP2 LAMP1
10 metabolic process GO:0008152 9.43 NAGA GUSB GLA GBA FUCA1 CHIT1
11 glycosylceramide catabolic process GO:0046477 9.4 NAGA GLA
12 glycoside catabolic process GO:0016139 9.33 NAGA GLA FUCA1
13 glycolipid catabolic process GO:0019377 9.32 NAGA FUCA1
14 neutrophil degranulation GO:0043312 9.23 PSAP LAMP2 LAMP1 GUSB GLA FUCA1

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.65 TNNI3 M6PR LAMP2 LAMP1 GUSB
2 retromer complex binding GO:1905394 9.32 SORT1 M6PR
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 NAGA GUSB GLA CHIT1
4 alpha-galactosidase activity GO:0004557 9.16 NAGA GLA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 NAGA GUSB GLA GBA FUCA1 CHIT1

Sources for Fabry Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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