MCID: FBR012
MIFTS: 72

Fabry Disease

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

Aliases & Classifications for Fabry Disease

MalaCards integrated aliases for Fabry Disease:

Name: Fabry Disease 53 12 72 23 49 24 50 55 71 36 28 13 51 41 14 69
Alpha-Galactosidase a Deficiency 53 12 23 49 24 55
Angiokeratoma Corporis Diffusum 53 12 49 24 55 28
Anderson-Fabry Disease 53 23 49 24 55
Ceramide Trihexosidase Deficiency 53 49 24
Hereditary Dystopic Lipidosis 53 49 24
Fabry's Disease 12 72 24
Gla Deficiency 53 49 24
Fabry Disease, Cardiac Variant 53 28
Fd 55 71
Alpha Galactosidase Deficiency 12
Deficiency of Melibiase 12
Angiokeratoma, Diffuse 49
Angiokeratoma Diffuse 24
Diffuse Angiokeratoma 55
Galactosidase, Alpha 13

Characteristics:

Orphanet epidemiological data:

55
fabry disease
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood; Age of death: adult;

OMIM:

53
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:



Summaries for Fabry Disease

NINDS : 50 Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.  The disease is also called alpha-galactosidase-A deficiency.  A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys.  Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin.  Excess material buildup can lead to clouding in the corneas.  Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke.  The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure.  Other signs include decreased sweating, fever, and gastrointestinal difficulties. Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.  A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.  

MalaCards based summary : Fabry Disease, also known as alpha-galactosidase a deficiency, is related to sphingolipidosis and angiokeratoma, and has symptoms including arthralgia, fatigue and myalgia. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha), and among its related pathways/superpathways are Sphingolipid metabolism and Glycosphingolipid biosynthesis - globo and isoglobo series. The drugs 1-Deoxynojirimycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related phenotypes are behavior/neurological and homeostasis/metabolism

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 Fabry disease: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.

NIH Rare Diseases : 49 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease. Last updated: 10/4/2017

Genetics Home Reference : 24 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

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 134)
# Related Disease Score Top Affiliating Genes
1 sphingolipidosis 31.8 GLA PSAP
2 angiokeratoma 30.2 FUCA1 GLA NAGA
3 hypertrophic cardiomyopathy 29.9 GLA LAMP2 PRKAG2 TNNI3
4 angiokeratoma corporis diffusum with arteriovenous fistulas 12.4
5 kanzaki disease 11.9
6 neuropathy, hereditary sensory and autonomic, type iii 11.5
7 fibrous dysplasia/mccune-albright syndrome 10.9
8 skin hemangioma 10.4 GLA NAGA
9 renal artery atheroma 10.3 CST3 NOS3
10 glycoproteinosis 10.3 NAGA PSAP
11 farber lipogranulomatosis 10.3 NAGA PSAP
12 toxic myocarditis 10.3 NOS3 TNNI3
13 episodic pain syndrome, familial, 1 10.2
14 endotheliitis 10.2
15 peripheral artery disease 10.1 CST3 NOS3
16 fibrous dysplasia 10.1
17 dyspepsia 10.1
18 neuropathy 10.1
19 aspartylglucosaminuria 10.1 AGA NAGA
20 aging 10.0
21 danon disease 10.0 LAMP2 PRKAG2
22 kidney disease 10.0
23 dysautonomia 10.0
24 glycogen storage disease ii 10.0 LAMP2 PRKAG2
25 cerebritis 10.0
26 multiple sclerosis 9.9
27 aganglionosis, total intestinal 9.9
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 chronic kidney failure 9.9
30 sleep disorder 9.9
31 dwarfism 9.9
32 limb ischemia 9.9 NOS3 TNNI3
33 neuraminidase deficiency 9.9
34 atrial standstill 1 9.9 LAMP2 PRKAG2 TNNI3
35 erythermalgia, primary 9.9
36 fibrosis of extraocular muscles, congenital, 1 9.9
37 left ventricular noncompaction 9.9
38 retinitis 9.9
39 neuronitis 9.9
40 amyloidosis 9.9
41 priapism 9.9
42 meningitis 9.9
43 macular dystrophy, corneal 9.8
44 corneal dystrophy 9.8
45 systemic lupus erythematosus 9.8
46 familial mediterranean fever 9.8
47 end stage renal failure 9.8
48 keratopathy 9.8
49 chronic meningitis 9.8
50 brucellosis 9.8

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



Diseases related to Fabry Disease

Symptoms & Phenotypes for Fabry Disease

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
autonomic dysfunction
transient ischemic attacks
strokes

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

Skin Nails Hair Skin:
hypohidrosis
angiokeratoma

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

Respiratory Lung:
mild obstructive lung disease

Neurologic Peripheral Nervous System:
acroparesthesias, episodic
pain and paresthesia in the extremities, episodic
painful crises precipitated by exercise, fatigue, or stress

Abdomen Gastroin testinal:
abdominal pain
nausea
vomiting
tenesmus
episodic diarrhea

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)

Hematology:
anemia
bone marrow contains lipid-laden macrophages

Muscle Soft Tissue:
lymphedema
muscle cramps
fasciculations

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

Skeletal Hands:
limited extension of terminal joints


Clinical features from OMIM:

301500

Human phenotypes related to Fabry Disease:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
4 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
5 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
6 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
7 vertigo 55 31 occasional (7.5%) Occasional (29-5%) HP:0002321
8 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
9 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
10 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
11 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
12 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
13 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
14 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
15 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
16 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
17 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
18 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
19 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
20 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
21 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
22 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
23 renal insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0000083
24 proteinuria 55 31 frequent (33%) Frequent (79-30%) HP:0000093
25 nephropathy 55 31 frequent (33%) Frequent (79-30%) HP:0000112
26 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
27 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
28 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
29 atrioventricular block 55 31 frequent (33%) Frequent (79-30%) HP:0001678
30 emphysema 55 31 frequent (33%) Frequent (79-30%) HP:0002097
31 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
32 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
33 transient ischemic attack 55 31 hallmark (90%) Very frequent (99-80%) HP:0002326
34 hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000962
35 thick lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000179
36 corneal dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001131
37 congestive heart failure 55 31 hallmark (90%) Very frequent (99-80%) HP:0001635
38 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
39 hypohidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000966
40 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
41 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
42 abnormality of the renal tubule 55 31 frequent (33%) Frequent (79-30%) HP:0000091
43 nephrotic syndrome 55 31 hallmark (90%) Very frequent (99-80%) HP:0000100
44 anorexia 55 31 frequent (33%) Frequent (79-30%) HP:0002039
45 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
46 conjunctival telangiectasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000524
47 hematuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000790
48 diabetes insipidus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000873
49 angiokeratoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001014
50 mitral regurgitation 55 31 frequent (33%) Frequent (79-30%) HP:0001653

UMLS symptoms related to Fabry Disease:


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

MGI Mouse Phenotypes related to Fabry Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 A4GALT AGA GLA LAMP2 NOS3 PRKAG2
2 homeostasis/metabolism MP:0005376 10.06 NAGA NOS3 PRKAG2 PSAP UMOD A4GALT
3 cardiovascular system MP:0005385 9.91 CST3 GLA KCNN4 LAMP2 NOS3 PSAP
4 immune system MP:0005387 9.91 PSAP UMOD A4GALT GLA KCNN4 LAMP2
5 liver/biliary system MP:0005370 9.63 AGA GLA LAMP2 NOS3 PRKAG2 PSAP
6 muscle MP:0005369 9.5 CST3 GLA KCNN4 LAMP2 NOS3 PSAP
7 renal/urinary system MP:0005367 9.1 AGA GLA KCNN4 NOS3 PSAP UMOD

Drugs & Therapeutics for Fabry Disease

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
1-Deoxynojirimycin Experimental Phase 3,Phase 2,Phase 1 19130-96-2 1374
2 Anti-Infective Agents Phase 3,Phase 2,Phase 1
3 Antiviral Agents Phase 3,Phase 2,Phase 1
4 Pharmaceutical Solutions Phase 3,Phase 1
5
Coal tar Approved Phase 2 8007-45-2
6 Neurotransmitter Agents Phase 2
7 Peripheral Nervous System Agents Phase 2
8
Acetylcholine Approved 51-84-3 187
9
Nitroprusside Approved, Investigational 15078-28-1 11963622
10
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11
Enalapril Approved, Vet_approved 75847-73-3 40466924 5362032
12
Enalaprilat Approved 76420-72-9 6917719
13
Losartan Approved 114798-26-4 3961
14
Hydroquinone Approved, Investigational 123-31-9 785
15
Menthol Approved 2216-51-5 16666
16
Tropicamide Approved, Investigational 1508-75-4 5593
17
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
18
Ethanol Approved 64-17-5 702
19
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
20 tannic acid Approved, Nutraceutical
21
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
22 Annexin A5
23 Antibodies
24 Immunoglobulins
25 Fluorodeoxyglucose F18
26 Bone Density Conservation Agents
27 Ergocalciferols
28 Hormones
29 Micronutrients
30 Trace Elements
31 Vitamins
32 Angiotensin II Type 1 Receptor Blockers
33 Angiotensin Receptor Antagonists
34 Angiotensin-Converting Enzyme Inhibitors
35 Angiotensinogen
36 Anti-Arrhythmia Agents
37 Antihypertensive Agents
38 HIV Protease Inhibitors
39
protease inhibitors
40 Autonomic Agents
41 Cholinergic Agents
42 Cholinergic Antagonists
43 Muscarinic Antagonists
44 Mydriatics
45 Ophthalmic Solutions
46 Retinol palmitate
47 Anesthetics
48 Anesthetics, Local
49 Calciferol Nutraceutical
50 Vitamin D2 Nutraceutical

Interventional clinical trials:

(show top 50) (show all 136)

# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
3 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
4 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
5 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
6 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
7 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4 Agalsidase beta (recombinant form)
8 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
9 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
10 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
11 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
12 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
13 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
14 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
15 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
16 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
17 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
18 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Recruiting NCT01298141 Phase 3
19 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Recruiting NCT03180840 Phase 3
20 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
21 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
22 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3 migalastat HCl 150 mg
23 Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease Not yet recruiting NCT03425539 Phase 3 Lucerastat;Placebo
24 Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Withdrawn NCT02921620 Phase 3
25 Open Label Long-term Safety Study of AT1001 in Patients With Fabry Disease Who Have Completed a Previous AT1001 Study Completed NCT00526071 Phase 2 AT1001
26 Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease Completed NCT02228460 Phase 2 GZ/SAR402671
27 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed NCT01363492 Phase 2
28 Drug-Drug Interaction Study Between AT1001 and Agalsidase in Subjects With Fabry Disease Completed NCT01196871 Phase 2 AT1001
29 Alternative Dosing and Regimen of Replagal to Treat Fabry Disease Completed NCT00075244 Phase 2 Replagal
30 Dosing Study of Replagal in Patients With Fabry Disease Completed NCT00068107 Phase 2 Replagal
31 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
32 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00196716 Phase 2
33 A Study of AT1001 in Patients With Fabry Disease Completed NCT00214500 Phase 2 AT1001 (migalastat hydrochloride)
34 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Female Patients With Fabry Disease Completed NCT00304512 Phase 2 AT1001 (migalastat hydrochloride)
35 A 12-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283959 Phase 2 AT1001 (migalastat hydrochloride)
36 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2 AT1001 (migalastat hydrochloride)
37 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
38 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed NCT00074958 Phase 2
39 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed NCT00084084 Phase 2 Agalsidase alfa
40 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed NCT01678898 Phase 1, Phase 2 PRX-102
41 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed NCT01304277 Phase 2
42 An Extension of a Phase 1/2, Open Label, Dose Ranging Study of PRX-102 in Adult Fabry Patients Completed NCT01769001 Phase 1, Phase 2 PRX-102
43 Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease Active, not recruiting NCT02489344 Phase 2 GZ/SAR402671
44 Extension Study of PRX-102 for up to 60 Months Enrolling by invitation NCT01981720 Phase 1, Phase 2
45 Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease Not yet recruiting NCT03228940 Phase 1, Phase 2 RVX000222
46 Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme Terminated NCT00837824 Phase 2
47 Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease Withdrawn NCT01588314 Phase 2 Gabapentin;placebo
48 A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease Completed NCT02930655 Phase 1 Lucerastat;Enzyme replacement therapy (ERT)
49 Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease Completed NCT02995993 Phase 1 Moss-aGal (recombinant human alpha-galactosidase A produced in moss)
50 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal

Search NIH Clinical Center for Fabry Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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
3 Angiokeratoma Corporis Diffusum 28

Anatomical Context for Fabry Disease

MalaCards organs/tissues related to Fabry Disease:

38
Skin, Heart, Kidney, Eye, Bone, Endothelial, Lung

Publications for Fabry Disease

Articles related to Fabry Disease:

(show top 50) (show all 828)
# Title Authors Year
1
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. ( 29437868 )
2018
2
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. ( 29452394 )
2018
3
A predominant cardiac phenotype of Anderson-Fabry disease in presence of a MYBPC3 gene mutation and a LAMA4 gene mutation. ( 29415625 )
2018
4
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry. ( 29215092 )
2018
5
Simple and efficient screening of patients with Fabry disease with high resolution melting. ( 29305833 )
2018
6
Inner ear involvement in fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. ( 29307789 )
2018
7
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic<i>GLA</i>mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. ( 29330335 )
2018
8
Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion. ( 29421273 )
2018
9
Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) as a biomarker for cardiac variant (N215S) Fabry disease. ( 29294190 )
2018
10
Default mode network modifications in Fabry disease: A resting-state fMRI study with structural correlations. ( 29315984 )
2018
11
Letter regarding Morsbach et al. "Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy". ( 29395363 )
2018
12
Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease. ( 29326878 )
2018
13
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease. ( 29274327 )
2018
14
Editorial commentary: Newborn screening for Fabry disease: Too much too soon? ( 29336944 )
2018
15
Motor involvement in Fabry disease. ( 29326873 )
2018
16
Use of RS-fMRI in Fabry disease: Do we need it? ( 28404808 )
2017
17
Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model. ( 29422837 )
2017
18
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. ( 27998644 )
2017
19
Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy. ( 28793143 )
2017
20
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophya8-a8-a8-a8-a8-a8-a8-a8-. ( 28688718 )
2017
21
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. ( 27834756 )
2017
22
Metabolic progression to clinical phenotype in classic Fabry disease. ( 28049500 )
2017
23
Fabry Disease: An Uncommon Cause of Renal Failure. ( 28389313 )
2017
24
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. ( 28723748 )
2017
25
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry. ( 28510034 )
2017
26
Fabry disease and its cardiac involvement. ( 29264031 )
2017
27
Fabry disease in children: a federal screening programme in Russia. ( 28871487 )
2017
28
Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease. ( 28936893 )
2017
29
The Coexistence of Multiple Myeloma-associated Amyloid Light-chain Amyloidosis and Fabry Disease in a Hemodialysis Patient. ( 28381753 )
2017
30
Treatment of Depression in Adults with Fabry Disease. ( 28417336 )
2017
31
A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women. ( 28892806 )
2017
32
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports. ( 28499424 )
2017
33
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype. ( 28496025 )
2017
34
The pathophysiology of Fabry disease. ( 28843599 )
2017
35
Prominent regression of corneal deposits in Fabry disease 16A years after initiation of enzyme replacement therapy. ( 28834375 )
2017
36
Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease. ( 28382085 )
2017
37
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. ( 28835480 )
2017
38
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression. ( 29110178 )
2017
39
Pathomechanisms of renal Fabry disease. ( 28401309 )
2017
40
Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study. ( 28404798 )
2017
41
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes. ( 28798024 )
2017
42
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease. ( 28377241 )
2017
43
E-Learning for Rare Diseases: An Example Using Fabry Disease. ( 28946642 )
2017
44
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. ( 28495078 )
2017
45
Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis. ( 28386689 )
2017
46
Enhancing the diagnosis of fabry disease in cardiology with a targeted information: a before-after control-impact study. ( 28409012 )
2017
47
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now. ( 28933368 )
2017
48
Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study. ( 28069318 )
2017
49
High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper. ( 28384397 )
2017
50
Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease. ( 28951772 )
2017

Variations for Fabry Disease

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

71 (show top 50) (show all 180)
# Symbol AA change Variation ID SNP ID
1 GLA p.Leu32Pro VAR_000431
2 GLA p.Asn34Ser VAR_000432 rs104894835
3 GLA p.Gly35Arg VAR_000433
4 GLA p.Pro40Ser VAR_000434 rs104894831
5 GLA p.Arg49Leu VAR_000435
6 GLA p.Cys52Arg VAR_000436
7 GLA p.Cys52Ser VAR_000437 rs869312256
8 GLA p.Cys56Phe VAR_000438 rs869312258
9 GLA p.Cys56Gly VAR_000439 rs104894836
10 GLA p.Glu59Lys VAR_000440
11 GLA p.Glu66Gln VAR_000441 rs104894833
12 GLA p.Met72Val VAR_000442
13 GLA p.Gly85Asp VAR_000443
14 GLA p.Leu89Arg VAR_000444
15 GLA p.Arg100Lys VAR_000445 rs869312273
16 GLA p.Arg112Cys VAR_000447 rs104894834
17 GLA p.Arg112His VAR_000448 rs372966991
18 GLA p.Gly128Glu VAR_000450
19 GLA p.Leu131Pro VAR_000451 rs869312298
20 GLA p.Cys142Tyr VAR_000452
21 GLA p.Ala143Pro VAR_000453 rs104894845
22 GLA p.Gly144Val VAR_000454
23 GLA p.Pro146Ser VAR_000455 rs104894837
24 GLA p.Ala156Thr VAR_000456 rs28935195
25 GLA p.Ala156Val VAR_000457 rs869312307
26 GLA p.Trp162Arg VAR_000458 rs28935196
27 GLA p.Asp165Val VAR_000459
28 GLA p.Leu166Val VAR_000460
29 GLA p.Cys172Tyr VAR_000461 rs869312318
30 GLA p.Cys202Trp VAR_000462 rs104894838
31 GLA p.Pro205Thr VAR_000463 rs397515870
32 GLA p.Asn215Ser VAR_000464 rs28935197
33 GLA p.Ile219Asn VAR_000465
34 GLA p.Asn224Asp VAR_000466
35 GLA p.Arg227Gln VAR_000467 rs104894840
36 GLA p.Asp231Asn VAR_000468
37 GLA p.Asp244Asn VAR_000469 rs727503948
38 GLA p.Asp264Val VAR_000471 rs28935486
39 GLA p.Asp266Val VAR_000472 rs28935487
40 GLA p.Val269Ala VAR_000473 rs28935488
41 GLA p.Asn272Lys VAR_000474
42 GLA p.Gln279Glu VAR_000475 rs28935485
43 GLA p.Met284Thr VAR_000476
44 GLA p.Ala288Asp VAR_000477 rs869312437
45 GLA p.Met296Val VAR_000478 rs104894830
46 GLA p.Ser297Phe VAR_000479 rs28935489
47 GLA p.Asn298Lys VAR_000480
48 GLA p.Arg301Gln VAR_000481 rs104894828
49 GLA p.Asp313Tyr VAR_000482 rs28935490
50 GLA p.Val316Glu VAR_000483

ClinVar genetic disease variations for Fabry Disease:

6 (show top 50) (show all 194)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLA GLA, EX3-4DEL deletion Pathogenic
2 GLA NM_000169.2(GLA): c.1066C> T (p.Arg356Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894827 GRCh37 Chromosome X, 100653021: 100653021
3 GLA GLA, EX3DEL deletion Pathogenic
4 GLA NM_000169.2(GLA): c.902G> A (p.Arg301Gln) single nucleotide variant Pathogenic rs104894828 GRCh37 Chromosome X, 100653455: 100653455
5 GLA NM_000169.2(GLA): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic rs104894829 GRCh37 Chromosome X, 100662761: 100662761
6 GLA NM_000169.2(GLA): c.886A> G (p.Met296Val) single nucleotide variant Pathogenic rs104894830 GRCh37 Chromosome X, 100653471: 100653471
7 GLA GLA, EX4DEL deletion Pathogenic
8 GLA NM_000169.2(GLA): c.118C> T (p.Pro40Ser) single nucleotide variant Pathogenic rs104894831 GRCh37 Chromosome X, 100662774: 100662774
9 GLA GLA, IVS6DS, G-T, +1 single nucleotide variant Pathogenic
10 GLA NM_000169.2(GLA): c.835C> G (p.Gln279Glu) single nucleotide variant Pathogenic rs28935485 GRCh37 Chromosome X, 100653522: 100653522
11 GLA NM_000169.2(GLA): c.982G> A (p.Gly328Arg) single nucleotide variant Pathogenic rs104894832 GRCh37 Chromosome X, 100653375: 100653375
12 GLA NM_000169.2(GLA): c.101A> G (p.Asn34Ser) single nucleotide variant Pathogenic rs104894835 GRCh37 Chromosome X, 100662791: 100662791
13 GLA NM_000169.2(GLA): c.166T> G (p.Cys56Gly) single nucleotide variant Pathogenic rs104894836 GRCh37 Chromosome X, 100662726: 100662726
14 GLA NM_000169.2(GLA): c.436C> T (p.Pro146Ser) single nucleotide variant Pathogenic rs104894837 GRCh37 Chromosome X, 100656731: 100656731
15 GLA NM_000169.2(GLA): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs28935195 GRCh37 Chromosome X, 100656701: 100656701
16 GLA GLA, EX3-7DEL deletion Pathogenic
17 GLA NM_000169.2(GLA): c.484T> C (p.Trp162Arg) single nucleotide variant Pathogenic rs28935196 GRCh37 Chromosome X, 100656683: 100656683
18 GLA NM_000169.2(GLA): c.606T> G (p.Cys202Trp) single nucleotide variant Pathogenic rs104894838 GRCh37 Chromosome X, 100655687: 100655687
19 GLA NM_000169.2(GLA): c.644A> G (p.Asn215Ser) single nucleotide variant Pathogenic rs28935197 GRCh37 Chromosome X, 100653930: 100653930
20 GLA NM_000169.2(GLA): c.806T> C (p.Val269Ala) single nucleotide variant Pathogenic rs28935488 GRCh37 Chromosome X, 100653551: 100653551
21 GLA NM_000169.2(GLA): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs104894840 GRCh37 Chromosome X, 100653894: 100653894
22 GLA NM_000169.2(GLA): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic rs104894841 GRCh37 Chromosome X, 100653895: 100653895
23 GLA NM_000169.2(GLA): c.791A> T (p.Asp264Val) single nucleotide variant Pathogenic rs28935486 GRCh37 Chromosome X, 100653783: 100653783
24 GLA NM_000169.2(GLA): c.797A> T (p.Asp266Val) single nucleotide variant Pathogenic rs28935487 GRCh37 Chromosome X, 100653777: 100653777
25 GLA NM_000169.2(GLA): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic rs104894839 GRCh37 Chromosome X, 100653496: 100653496
26 GLA NM_000169.2(GLA): c.890C> T (p.Ser297Phe) single nucleotide variant Pathogenic rs28935489 GRCh37 Chromosome X, 100653467: 100653467
27 GLA NM_000169.2(GLA): c.979C> A (p.Gln327Lys) single nucleotide variant Pathogenic rs28935491 GRCh37 Chromosome X, 100653378: 100653378
28 GLA NM_000169.2(GLA): c.983G> C (p.Gly328Ala) single nucleotide variant Pathogenic rs28935492 GRCh37 Chromosome X, 100653374: 100653374
29 GLA NM_000169.2(GLA): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs104894842 GRCh37 Chromosome X, 100653067: 100653067
30 GLA NM_000169.2(GLA): c.1025G> A (p.Arg342Gln) single nucleotide variant Pathogenic rs28935493 GRCh37 Chromosome X, 100653062: 100653062
31 GLA NM_000169.2(GLA): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs104894843 GRCh37 Chromosome X, 100653063: 100653063
32 GLA NM_000169.2(GLA): c.1081G> C (p.Gly361Arg) single nucleotide variant Pathogenic rs28935494 GRCh37 Chromosome X, 100653006: 100653006
33 GLA NM_000169.2(GLA): c.1192G> T (p.Glu398Ter) single nucleotide variant Pathogenic rs104894844 GRCh37 Chromosome X, 100652895: 100652895
34 GLA NM_000169.2(GLA): c.369+2T> G single nucleotide variant Pathogenic rs387906483 GRCh37 Chromosome X, 100658797: 100658797
35 GLA GLA, IVS5AS, DEL -2,-3 deletion Pathogenic
36 GLA GLA, 13-BP DEL, NT125 deletion Pathogenic
37 GLA GLA, 1-BP DEL, NT716 deletion Pathogenic
38 GLA GLA, 2-BP DEL, NT773 deletion Pathogenic
39 GLA GLA, 5-BP INS, NT954 insertion Pathogenic
40 GLA GLA, 11-BP DEL, NT1016 deletion Pathogenic
41 GLA GLA, 1-BP INS, NT1040 insertion Pathogenic
42 GLA GLA, 53-BP DEL, NT1123 deletion Pathogenic
43 GLA GLA, 2-BP DEL, NT1176 deletion Pathogenic
44 GLA GLA, 3-BP DEL, 1208AAG deletion Pathogenic
45 GLA GLA, EX1-2DEL deletion Pathogenic
46 GLA GLA, EX6-7DEL deletion Pathogenic
47 GLA GLA, EX2-6DUP duplication Pathogenic
48 GLA NM_000169.2(GLA): c.888G> A (p.Met296Ile) single nucleotide variant Pathogenic rs104894846 GRCh37 Chromosome X, 100653469: 100653469
49 GLA NM_000169.2(GLA): c.58G> C (p.Ala20Pro) single nucleotide variant Pathogenic rs104894847 GRCh37 Chromosome X, 100662834: 100662834
50 GLA NM_000169.2(GLA): c.1147_1149delTTC (p.Phe383del) deletion Pathogenic rs1057519609 GRCh38 Chromosome X, 101397950: 101397952

Expression for Fabry Disease

Search GEO for disease gene expression data for Fabry Disease.

Pathways for Fabry Disease

Pathways related to Fabry Disease according to 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 11.19 AGA FUCA1 GLA LAMP2 NAGA PSAP
2
Show member pathways
10.7 A4GALT GLA NAGA
3 10.41 AGA FUCA1

GO Terms for Fabry Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 A4GALT AGA CST3 FUCA1 GLA LAMP2
2 azurophil granule lumen GO:0035578 9.43 AGA FUCA1 GLA
3 contractile fiber GO:0043292 9.32 CST3 TNNI3
4 lysosomal lumen GO:0043202 9.26 FUCA1 GLA LAMP2 PSAP
5 lysosome GO:0005764 9.17 AGA CST3 FUCA1 GLA LAMP2 NAGA

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 9.54 FUCA1 GLA NAGA
2 neutrophil degranulation GO:0043312 9.43 AGA CST3 FUCA1 GLA LAMP2 PSAP
3 glycosphingolipid metabolic process GO:0006687 9.4 GLA PSAP
4 oligosaccharide metabolic process GO:0009311 9.32 GLA NAGA
5 glycosylceramide catabolic process GO:0046477 9.26 GLA NAGA
6 glycolipid catabolic process GO:0019377 9.16 FUCA1 NAGA
7 glycoside catabolic process GO:0016139 8.8 FUCA1 GLA NAGA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GLA NAGA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 FUCA1 GLA NAGA
3 alpha-galactosidase activity GO:0004557 8.62 GLA NAGA

Sources for Fabry Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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