Fabry Disease (FD)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Fabry Disease

MalaCards integrated aliases for Fabry Disease:

Name: Fabry Disease 57 11 24 19 42 52 58 75 73 28 12 53 5 43 14 71 33
Alpha-Galactosidase a Deficiency 57 11 24 19 42 58 33
Anderson-Fabry Disease 57 24 19 42 58 33
Angiokeratoma Corporis Diffusum 57 11 19 42 58
Ceramide Trihexosidase Deficiency 57 19 42 33
Fabry Disease, Cardiac Variant 57 11 28 5
Fabry's Disease 11 42 75 38
Hereditary Dystopic Lipidosis 57 19 42
Gla Deficiency 57 19 42
Fd 58 73
Alpha Galactosidase Deficiency 11
Deficiency of Melibiase 11
Angiokeratoma, Diffuse 19
Angiokeratoma Diffuse 42
Diffuse Angiokeratoma 58



X-linked dominant,X-linked recessive 58 , X-linked 57


1-9/1000000 (Worldwide, Australia, Netherlands, Portugal, Czech Republic, United Kingdom, Japan) <1/1000000 (Turkey) 1-9/100000 (Sweden) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

Age Of Death:

adult,elderly 58


57 (Updated 24-Oct-2022)
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)


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: 19 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 genetic changes) 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.

MalaCards based summary: Fabry Disease, also known as alpha-galactosidase a deficiency, is related to kanzaki disease and schindler disease, and has symptoms including abdominal pain, angina pectoris and muscular fasciculation. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha), and among its related pathways/superpathways are Innate Immune System and Senescence and autophagy in cancer. The drugs Coal tar and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are corneal opacity and arthritis

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 24-Oct-2022)

NINDS: 52 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.

MedlinePlus Genetics: 42 Fabry disease is an inherited disorder that results from the buildup of a 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. Additional signs and symptoms are possible, which can vary among affected individuals.Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.

Disease Ontology: 11 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.

Wikipedia: 75 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 630)
# Related Disease Score Top Affiliating Genes
1 kanzaki disease 33.0 NAGA GLA
2 schindler disease 32.7 PSAP NAGA GLA FUCA1
3 chronic kidney disease 31.3 UMOD TNNI3 NOS3 IL6 GLA CST3
4 kidney disease 31.2 UMOD NOS3 IL6 GLA CST3
5 cardiomyopathy, familial hypertrophic, 1 31.2 TNNI3 RPL36A-HNRNPH2 PRKAG2 LAMP2 GLA
6 hypertrophic cardiomyopathy 31.1 TNNI3 RPL36A-HNRNPH2 PRKAG2 NOS3 LAMP2 IL6
7 lysosomal storage disease 31.1 PSAP NAGA M6PR IL6 GUSB GLA
8 angina pectoris 31.1 TNNI3 NOS3 IL6
9 stroke, ischemic 31.1 NOS3 IL6 GLA CST3
10 angiokeratoma 31.1 UGCG PRKAG2 NAGA GLA FUCA1 A4GALT
11 sphingolipidosis 31.0 UGCG PSAP PRKAG2 NAGA M6PR LAMP2
12 gaucher disease, type i 30.8 UGCG PSAP GLA CHIT1
13 glycoproteinosis 30.6 PSAP NAGA LAMP1 FUCA1
14 acute myocardial infarction 30.6 TNNI3 NOS3 IL6 CST3
15 acute kidney failure 30.5 UMOD IL6 CST3
16 autosomal dominant polycystic kidney disease 30.5 UMOD NOS3 IL6 CST3
17 galactosialidosis 30.3 PSAP M6PR FUCA1 CHIT1
18 nonobstructive coronary artery disease 30.3 TNNI3 NOS3 IL6
19 intracranial berry aneurysm 30.3 TNNI3 NOS3 IL6
20 gm1 gangliosidosis 30.2 UGCG PSAP GLA CHIT1
21 gaucher's disease 30.2 UGCG PSAP M6PR LAMP2 LAMP1 GUSB
22 restrictive cardiomyopathy 30.2 TNNI3 PRKAG2 LAMP2
23 mucopolysaccharidosis-plus syndrome 30.1 M6PR LAMP1 GUSB GLA FUCA1
24 aortic aneurysm, familial abdominal, 1 30.1 NOS3 IL6 CST3
25 lipid storage disease 30.1 IL6 GLA CHIT1
26 gangliosidosis 30.1 UGCG PSAP NAGA GLA CHIT1
27 scheie syndrome 30.0 M6PR LAMP1 GUSB GLA FUCA1
28 niemann-pick disease, type c1 30.0 UGCG PSAP NAGA LAMP2 LAMP1
29 third-degree atrioventricular block 30.0 TNNI3 PRKAG2
30 glycogen storage disease ii 30.0 PRKAG2 M6PR LAMP2
31 metachromatic leukodystrophy 30.0 PSAP M6PR GLA
32 mucopolysaccharidosis, type ii 29.9 M6PR LAMP2 GUSB GLA
33 tay-sachs disease 29.8 UGCG PSAP NAGA M6PR GLA
34 niemann-pick disease, type a 29.8 PSAP GLA CHIT1
35 mucolipidosis 29.8 SORT1 PSAP M6PR LAMP2 LAMP1
36 aspartylglucosaminuria 29.7 PSAP NAGA M6PR FUCA1
37 niemann-pick disease 29.4 UGCG PSAP M6PR LAMP2 LAMP1 IL6
38 angiokeratoma corporis diffusum with arteriovenous fistulas 11.7
39 schindler disease, type i 11.5
40 anhidrosis 10.8
41 end stage renal disease 10.8
42 muscle hypertrophy 10.7
43 cerebrovascular disease 10.7
44 lysosomal disease 10.7
45 neuropathy 10.6
46 inherited metabolic disorder 10.6
47 mannosidosis, beta a, lysosomal 10.6
48 erythermalgia, primary 10.5
49 peripheral nervous system disease 10.5
50 mannosidosis, alpha b, lysosomal 10.5

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 30 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
2 arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
3 malabsorption 58 30 Hallmark (90%) Very frequent (99-80%)
4 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
5 renal insufficiency 58 30 Very rare (1%) Very frequent (99-80%)
6 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
7 hyperkeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
8 congestive heart failure 58 30 Hallmark (90%) Very frequent (99-80%)
9 hypohidrosis 58 30 Hallmark (90%) Very frequent (99-80%)
10 nephrotic syndrome 58 30 Hallmark (90%) Very frequent (99-80%)
11 conjunctival telangiectasia 58 30 Hallmark (90%) Very frequent (99-80%)
12 hematuria 58 30 Hallmark (90%) Very frequent (99-80%)
13 angiokeratoma 58 30 Hallmark (90%) Very frequent (99-80%)
14 corneal dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
15 subcutaneous nodule 58 30 Hallmark (90%) Very frequent (99-80%)
16 abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
17 transient ischemic attack 58 30 Very rare (1%) Very frequent (99-80%)
18 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
19 myalgia 58 30 Hallmark (90%) Very frequent (99-80%)
20 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
21 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
22 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
23 cataract 58 30 Frequent (33%) Frequent (79-30%)
24 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
25 short stature 58 30 Frequent (33%) Frequent (79-30%)
26 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
27 proteinuria 58 30 Very rare (1%) Frequent (79-30%)
28 nephropathy 58 30 Frequent (33%) Frequent (79-30%)
29 delayed puberty 58 30 Frequent (33%) Frequent (79-30%)
30 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
31 abnormal aortic valve morphology 58 30 Frequent (33%) Frequent (79-30%)
32 atrioventricular block 58 30 Frequent (33%) Frequent (79-30%)
33 abnormal renal tubule morphology 58 30 Frequent (33%) Frequent (79-30%)
34 mitral regurgitation 58 30 Frequent (33%) Frequent (79-30%)
35 anorexia 58 30 Frequent (33%) Frequent (79-30%)
36 emphysema 58 30 Frequent (33%) Frequent (79-30%)
37 hyperlipidemia 58 30 Frequent (33%) Frequent (79-30%)
38 bundle branch block 58 30 Frequent (33%) Frequent (79-30%)
39 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
40 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
41 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
42 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
43 fever 58 30 Occasional (7.5%) Occasional (29-5%)
44 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
45 lymphedema 58 30 Occasional (7.5%) Occasional (29-5%)
46 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
47 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
48 diabetes insipidus 58 30 Occasional (7.5%) Occasional (29-5%)
49 angina pectoris 58 30 Occasional (7.5%) Occasional (29-5%)
50 left ventricular hypertrophy 58 30 Very rare (1%) Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
autonomic dysfunction
transient ischemic attacks

Laboratory Abnormalities:
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:
abdominal pain
episodic diarrhea

Muscle Soft Tissue:
muscle cramps

Genitourinary Kidneys:
renal failure
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:
congestive heart failure
myocardial infarction
ventricular septal hypertrophy
Growth Other:
delayed puberty
retarded growth

bone marrow contains lipid-laden macrophages

Skin Nails Hair Skin:

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 24-Oct-2022)

UMLS symptoms related to Fabry Disease:

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

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

25 (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:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 A4GALT CST3 FUCA1 GLA GUSB IL6
2 nervous system MP:0003631 10.2 CST3 FUCA1 GLA IL6 LAMP1 LAMP2
3 renal/urinary system MP:0005367 10.17 FUCA1 GLA GUSB IL6 LAMP1 M6PR
4 cellular MP:0005384 10.13 CST3 FUCA1 GLA GUSB IL6 LAMP1
5 muscle MP:0005369 10.06 CST3 GLA IL6 LAMP2 NOS3 PRKAG2
6 cardiovascular system MP:0005385 10.03 CST3 GLA IL6 LAMP1 LAMP2 M6PR
7 behavior/neurological MP:0005386 10 A4GALT FUCA1 GLA GUSB IL6 LAMP2
8 immune system MP:0005387 9.73 A4GALT CHIT1 GLA IL6 LAMP1 LAMP2
9 mortality/aging MP:0010768 9.44 A4GALT CST3 GLA GUSB IL6 LAMP1

Drugs & Therapeutics for Fabry Disease

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
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
Duvoglustat Investigational Phase 1 19130-96-2 1374 29435
6 Anti-Infective Agents Phase 1
7 Antiviral Agents Phase 1
Parathyroid hormone Approved, Investigational 9002-64-6
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
Losartan Approved 114798-26-4 3961
Enalaprilat Approved 76420-72-9 6917719 5462501
Enalapril Approved, Vet_approved 75847-73-3 40466924 5388962 5362032
Tropicamide Approved, Investigational 1508-75-4 5593
Acetylcholine Approved, Investigational 51-84-3 187
Ethanol Approved 64-17-5 702
Nitroprusside Approved, Investigational 15078-28-1 11963622
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
Cannabidiol Approved, Investigational 13956-29-1 521372 644019
Dronabinol Approved, Illicit 1972-08-3 16078
Vitamin A Approved, Nutraceutical, Vet_approved 2052-63-3, 22737-97-9, 22737-96-8, 68-26-8 9904001 9947823 5280382 445354
22 Annexin A5
23 Hormones
Angiotensinogen 16133225
25 Angiotensin-Converting Enzyme Inhibitors
26 Angiotensin Receptor Antagonists
27 Angiotensin II Type 1 Receptor Blockers
28 Giapreza
29 Antihypertensive Agents
protease inhibitors
31 HIV Protease Inhibitors
32 Anti-Arrhythmia Agents
33 Fluorodeoxyglucose F18
34 Mydriatics
35 Muscarinic Antagonists
36 Cholinergic Antagonists
37 Cholinergic Agents
38 Ophthalmic Solutions
39 Mitogens
40 Anesthetics, Local
41 Vitamins
42 Retinol palmitate
43 Anesthetics
44 Parasympatholytics

Interventional clinical trials:

(show top 50) (show all 190)
# 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 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
4 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
5 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
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 Phase 4, Open Label, Safety and Efficacy Study of Fabrazyme® (Agalsidase Beta) as Enzyme Replacement Therapy in Chinese Participants With Fabry Disease Active, not recruiting NCT05054387 Phase 4 Agalsidase beta
10 A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Agalsidase Alfa (r-DNA Origin) (Replagal™) in Indian Children and Adults With Fabry Disease Not yet recruiting NCT05067868 Phase 4
11 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)
12 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
13 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
14 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
15 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
16 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)
17 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 Completed NCT02795676 Phase 3
18 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
19 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
20 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
21 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
22 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
23 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
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 Completed NCT03425539 Phase 3 Lucerastat;Placebo
25 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) Completed NCT03180840 Phase 3
26 A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects With Fabry Disease Recruiting NCT04840667 Phase 3 REPLAGAL
27 An Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of REPLAGAL® in Treatment-naïve Chinese Subjects With Fabry Disease Recruiting NCT04974749 Phase 3
28 A Randomized, Double-blind, Placebo-controlled, 12-month Phase 3 Study to Evaluate the Effect of Venglustat on Neuropathic and Abdominal Pain in Male and Female Adults With Fabry Disease Who Are Treatment-naïve or Untreated for at Least 6 Months Recruiting NCT05206773 Phase 3 Venglustat (GZ402671);Placebo
29 A Randomized, Open-label, Parallel-group, 18-month Phase 3 Study to Evaluate the Effect of Venglustat Compared With Usual Standard of Care on Left Ventricular Mass Index in Participants With Fabry Disease and Left Ventricular Hypertrophy Recruiting NCT05280548 Phase 3 Venglustat (GZ402671);Agalsidase alfa;Agalsidase beta (GZ419828);Migalastat
30 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
31 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 Active, not recruiting NCT03737214 Phase 3 Lucerastat
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 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
46 A Safety and Pharmacokinetic Study of Replagal Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT00048906 Phase 2 DRX005B
47 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
48 A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
49 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
50 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

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :

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 28 GLA
2 Fabry Disease, Cardiac Variant 28

Anatomical Context for Fabry Disease

Organs/tissues related to Fabry Disease:

MalaCards : Skin, Heart, Eye, Kidney, Brain, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 4686)
# Title Authors PMID Year
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. 62 24 57 5
25795794 2015
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. 62 24 57 5
18287059 2008
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. 62 24 57 5
12911529 2003
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. 53 62 57 5
18023222 2008
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. 24 57 5
11889412 2002
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. 53 62 57 5
10208848 1999
Diagnostic strategy for females suspected of Fabry disease. 62 57 5
31860127 2020
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. 62 57 5
31200018 2020
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. 62 57 5
17224688 2007
High incidence of later-onset fabry disease revealed by newborn screening. 62 57 5
16773563 2006
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. 62 57 5
16533976 2006
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. 53 62 24 57
16298216 2005
Remarkable variability in renal disease in a large Slovenian family with Fabry disease. 62 57 5
15162124 2004
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. 62 57 5
11804208 2001
Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions. 62 57 5
11531972 2001
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. 62 57 5
11179018 2001
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. 62 57 5
9883849 1999
Pulmonary involvement in Fabry disease. 62 57 5
9116979 1997
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy. 62 57 5
8738659 1996
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. 62 57 5
8807334 1996
An atypical variant of Fabry's disease in men with left ventricular hypertrophy. 62 57 5
7596372 1995
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. 62 57 5
7911050 1994
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 62 57 5
7504405 1993
Mutation analysis in patients with the typical form of Anderson-Fabry disease. 62 57 5
8395937 1993
An atypical variant of Fabry's disease with manifestations confined to the myocardium. 62 57 5
1846223 1991
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. 62 57 5
2160973 1990
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 62 57 5
2539398 1989
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease. 62 24 5
34401344 2021
Newborn screening for Fabry disease in the western region of Japan. 62 24 5
31956509 2020
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. 62 24 5
30594474 2019
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. 62 24 5
29543226 2019
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease. 62 24 5
30385651 2018
Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction. 62 24 5
30571380 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. 62 24 5
29649853 2018
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. 62 24 5
28728877 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation. 62 24 5
29621274 2018
Conjunctival lymphangiectasia associated with classic Fabry disease. 62 24 5
28500230 2018
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment. 62 24 5
28756410 2017
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. 62 24 5
29018006 2017
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. 62 24 5
27979989 2017
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 62 24 5
27657681 2017
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. 62 24 57
27834756 2017
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. 62 24 5
28672034 2017
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. 62 24 5
27356758 2016
Gastrointestinal involvement in Fabry disease. So important, yet often neglected. 62 24 5
26333625 2016
X-chromosome inactivation in female patients with Fabry disease. 62 24 5
25974833 2016
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. 62 24 5
26490103 2015
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. 62 24 5
25900714 2015
Thromboembolic events in Fabry disease and the impact of factor V Leiden. 62 24 5
25663229 2015
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. 62 24 5
25468652 2015

Variations for Fabry Disease

ClinVar genetic disease variations for Fabry Disease:

5 (show top 50) (show all 565)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) SNV Conflicting Interpretations Of Pathogenicity; Other
Uncertain Significance
10738 rs28935490 GRCh37: X:100653420-100653420
GRCh38: X:101398432-101398432
2 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.983G>C (p.Gly328Ala) SNV Pathogenic
10740 rs28935492 GRCh37: X:100653374-100653374
GRCh38: X:101398386-101398386
3 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) SNV Pathogenic
10742 rs28935493 GRCh37: X:100653062-100653062
GRCh38: X:101398074-101398074
4 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.337T>C (p.Phe113Leu) SNV Pathogenic
Likely Pathogenic
222218 rs869312142 GRCh37: X:100658831-100658831
GRCh38: X:101403843-101403843
5 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.902G>A (p.Arg301Gln) SNV Pathogenic
10715 rs104894828 GRCh37: X:100653455-100653455
GRCh38: X:101398467-101398467
6 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.196G>C (p.Glu66Gln) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
10723 rs104894833 GRCh37: X:100658972-100658972
GRCh38: X:101403984-101403984
7 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.101A>G (p.Asn34Ser) SNV Pathogenic
10724 rs104894835 GRCh37: X:100662791-100662791
GRCh38: X:101407803-101407803
8 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.644A>G (p.Asn215Ser) SNV Pathogenic
10730 rs28935197 GRCh37: X:100653930-100653930
GRCh38: X:101398942-101398942
9 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.680G>A (p.Arg227Gln) SNV Pathogenic
10732 rs104894840 GRCh37: X:100653894-100653894
GRCh38: X:101398906-101398906
10 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.886A>G (p.Met296Val) SNV Pathogenic
Pathogenic/Likely Pathogenic
10717 rs104894830 GRCh37: X:100653471-100653471
GRCh38: X:101398483-101398483
11 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.835C>G (p.Gln279Glu) SNV Pathogenic
10721 rs28935485 GRCh37: X:100653522-100653522
GRCh38: X:101398534-101398534
12 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.888G>A (p.Met296Ile) SNV Pathogenic
10763 rs104894846 GRCh37: X:100653469-100653469
GRCh38: X:101398481-101398481
13 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.58G>C (p.Ala20Pro) SNV Pathogenic
10764 rs104894847 GRCh37: X:100662834-100662834
GRCh38: X:101407846-101407846
14 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter) SNV Pathogenic
Likely Benign
10767 rs104894849 GRCh37: X:100652992-100652992
GRCh38: X:101398004-101398004
15 GLA NC_000023.11:g.101398823_101398824ins(300) INSERT Pathogenic
974834 GRCh37:
16 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1046G>A (p.Trp349Ter) SNV Pathogenic
Uncertain Significance
992222 rs869312218 GRCh37: X:100653041-100653041
GRCh38: X:101398053-101398053
17 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.974G>A (p.Gly325Asp) SNV Pathogenic
92574 rs398123228 GRCh37: X:100653383-100653383
GRCh38: X:101398395-101398395
18 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.125T>C (p.Met42Thr) SNV Pathogenic
92541 rs398123201 GRCh37: X:100662767-100662767
GRCh38: X:101407779-101407779
19 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.334C>T (p.Arg112Cys) SNV Pathogenic
92550 rs104894834 GRCh37: X:100658834-100658834
GRCh38: X:101403846-101403846
20 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) SNV Pathogenic
92561 rs398123217 GRCh37: X:100653927-100653927
GRCh38: X:101398939-101398939
21 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.640-801G>A SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
10768 rs199473684 GRCh37: X:100654735-100654735
GRCh38: X:101399747-101399747
22 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
92549 rs113173389 GRCh37: X:100658887-100658887
GRCh38: X:101403899-101403899
23 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.966C>G (p.Asp322Glu) SNV Pathogenic
92572 rs398123226 GRCh37: X:100653391-100653391
GRCh38: X:101398403-101398403
24 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.31_43dup (p.Ala15fs) DUP Pathogenic
919508 rs1928595440 GRCh37: X:100662848-100662849
GRCh38: X:101407860-101407861
25 RPL36A-HNRNPH2, GLA NC_000023.11:g.(?_101403791)_(101404005_?)del DEL Pathogenic
643707 GRCh37: X:100658779-100658993
GRCh38: X:101403791-101404005
26 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.496_497delinsGG (p.Leu166Gly) INDEL Pathogenic
662418 rs1603041916 GRCh37: X:100656670-100656671
GRCh38: X:101401682-101401683
27 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.901C>G (p.Arg301Gly) SNV Pathogenic
179546 rs398123224 GRCh37: X:100653456-100653456
GRCh38: X:101398468-101398468
28 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.661C>T (p.Gln221Ter) SNV Pathogenic
197638 rs797044747 GRCh37: X:100653913-100653913
GRCh38: X:101398925-101398925
29 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.950T>C (p.Ile317Thr) SNV Pathogenic
844415 rs869312158 GRCh37: X:100653407-100653407
GRCh38: X:101398419-101398419
30 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) SNV Pathogenic
Likely Pathogenic
198399 rs797044774 GRCh37: X:100653015-100653015
GRCh38: X:101398027-101398027
31 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.124A>G (p.Met42Val) SNV Pathogenic
222174 rs797044613 GRCh37: X:100662768-100662768
GRCh38: X:101407780-101407780
32 RPL36A-HNRNPH2, GLA NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del DEL Pathogenic
222420 rs869312426 GRCh37: X:100653551-100653554
GRCh38: X:101398563-101398566
33 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.734G>A (p.Trp245Ter) SNV Pathogenic
92564 rs398123220 GRCh37: X:100653840-100653840
GRCh38: X:101398852-101398852
34 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) SNV Pathogenic
222364 rs869312382 GRCh37: X:100653906-100653906
GRCh38: X:101398918-101398918
35 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.431G>T (p.Gly144Val) SNV Pathogenic
937290 rs782085638 GRCh37: X:100656736-100656736
GRCh38: X:101401748-101401748
36 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.413G>A (p.Gly138Glu) SNV Pathogenic
946654 rs1928326107 GRCh37: X:100656754-100656754
GRCh38: X:101401766-101401766
37 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.277G>A (p.Asp93Asn) SNV Pathogenic
222205 rs869312270 GRCh37: X:100658891-100658891
GRCh38: X:101403903-101403903
38 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.777del (p.Gly261fs) DEL Pathogenic
596584 rs1569303213 GRCh37: X:100653797-100653797
GRCh38: X:101398809-101398809
39 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.379A>T (p.Lys127Ter) SNV Pathogenic
1069600 GRCh37: X:100656788-100656788
GRCh38: X:101401800-101401800
40 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1188del (p.Tyr397fs) DEL Pathogenic
245806 rs879253955 GRCh37: X:100652899-100652899
GRCh38: X:101397911-101397911
41 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.437del (p.Pro146fs) DEL Pathogenic
1070568 GRCh37: X:100656730-100656730
GRCh38: X:101401742-101401742
42 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1235C>T (p.Thr412Ile) SNV Pathogenic
1071124 GRCh37: X:100652852-100652852
GRCh38: X:101397864-101397864
43 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.469C>T (p.Gln157Ter) SNV Pathogenic
196225 rs797044702 GRCh37: X:100656698-100656698
GRCh38: X:101401710-101401710
44 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.802-3_802-2del DEL Pathogenic
167137 rs797044498 GRCh37: X:100653557-100653558
GRCh38: X:101398569-101398570
45 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1023del (p.Glu341fs) DEL Pathogenic
291188 rs886044909 GRCh37: X:100653064-100653064
GRCh38: X:101398076-101398076
46 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.272T>C (p.Ile91Thr) SNV Pathogenic
222204 rs869312141 GRCh37: X:100658896-100658896
GRCh38: X:101403908-101403908
47 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.369+2T>A SNV Pathogenic
1075172 GRCh37: X:100658797-100658797
GRCh38: X:101403809-101403809
48 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.1028del (p.Pro343fs) DEL Pathogenic
222127 rs869312215 GRCh37: X:100653059-100653059
GRCh38: X:101398071-101398071
49 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.996_999del (p.Gln333fs) DEL Pathogenic
92575 rs398123229 GRCh37: X:100653358-100653361
GRCh38: X:101398370-101398373
50 RPL36A-HNRNPH2, GLA NM_000169.3(GLA):c.646T>G (p.Tyr216Asp) SNV Pathogenic
962893 rs1928199003 GRCh37: X:100653928-100653928
GRCh38: X:101398940-101398940

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

73 (show top 50) (show all 180)
# Symbol AA change Variation ID SNP ID
1 GLA p.Leu32Pro VAR_000431 rs1569306168
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 rs1057521047
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 rs1569304898
14 GLA p.Leu89Arg VAR_000444 rs1569304886
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 rs1555985175
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
2 11.15 LAMP2 LAMP1 IL6

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 lysosomal membrane GO:0005765 10.02 SORT1 PSAP M6PR LAMP2 LAMP1
2 late endosome GO:0005770 9.76 PSAP M6PR LAMP2 LAMP1
3 azurophil granule membrane GO:0035577 9.73 PSAP LAMP2 LAMP1
4 autolysosome GO:0044754 9.67 LAMP2 LAMP1
5 lysosomal lumen GO:0043202 9.65 FUCA1 GLA GUSB LAMP2 PSAP
6 lysosome GO:0005764 9.58 SORT1 PSAP NAGA M6PR LAMP2 LAMP1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.8 NAGA GUSB GLA FUCA1 CHIT1
2 glycosaminoglycan catabolic process GO:0006027 9.76 GUSB FUCA1
3 Golgi to lysosome transport GO:0090160 9.73 SORT1 LAMP1
4 establishment of protein localization to organelle GO:0072594 9.71 LAMP2 LAMP1
5 lipid metabolic process GO:0006629 9.61 UMOD UGCG PSAP PRKAG2 NAGA GLA
6 glycolipid catabolic process GO:0019377 9.56 FUCA1 NAGA
7 metabolic process GO:0008152 9.55 NAGA GUSB GLA FUCA1 CHIT1
8 glycosylceramide catabolic process GO:0046477 9.54 NAGA GLA
9 glycoside catabolic process GO:0016139 9.1 NAGA 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 9.96 TNNI3 M6PR LAMP2 LAMP1 GUSB
2 retromer complex binding GO:1905394 9.62 SORT1 M6PR
3 alpha-galactosidase activity GO:0004557 9.46 NAGA GLA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.35 NAGA GUSB GLA CHIT1
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 NAGA GUSB GLA FUCA1 CHIT1

Sources for Fabry Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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