Fabry disease

General Information (adopted from Orphanet):

Synonyms, Signs: FD
Anderson-Fabry disease
Diffuse angiokeratoma
Ceramide trihexosidase deficiency fabry disease, cardiac variant, included
Hereditary dystopic lipidosis
GLA deficiency
Angiokeratoma corporis diffusum
Alpha-galactosidase A deficiency
Number of Symptoms 179
OrphanetNr: 324
OMIM Id: 301500
ICD-10: E75.2
UMLs: C0002986
MeSH: D000795
MedDRA: 10016016
Snomed: 124464003
16652001

Prevalence, inheritance and age of onset:

Prevalence: <= 2.5 of 100 000 - PMID: 25987173 [IBIS]
Inheritance: X-linked
- PMID: 19318041 [IBIS]
Age of onset: Childhood
- PMID: 25987173 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Cataract associated with a metabolic disease
 -Rare eye disease
 -Rare genetic disease
Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Genetic skin vascular disease
 -Rare genetic disease
Lysosomal disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal disease with restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease
Rare hereditary metabolic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Skin vascular disease
 -Rare skin disease
Sphingolipidosis
 -Rare genetic disease
Sphingolipidosis with epilepsy
 -Rare neurologic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Comment:

Heterozygous females were thought to be asymptomatic carriers. However, it is now well acknowledged that heterozygous females can also be affected and may develop the full phenotype of disease manifestation, even though the aggravation of the disease occurs later in life. (PMID:25987173) Females are affected because there is no cross-correction between cells with normal α-galactosidase A activity (mutated X chromosome is inactivated) and enzyme deficient cells (non-mutated X chromosome is inactivated). The expression of the disease in female patients depends on the particular GLA mutation and especially on the pattern of X chromosome inactivation in each organ. Females can develop any of the complications that are seen in males, including strokes, cardiac disease and progressive renal insufficiency. However, in general, the clinical abnormalities are more variable, less severe and of later onset compared to the males with similar GLA mutations. (PMID:19318041) The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from Fabry disease (FD). One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease. (PMID:25977923)

Symptom Information: Sort by abundance 

1
(HPO:0011800) Midface retrusion 19318041 IBIS 221 / 7739
2
(HPO:0003774) Stage 5 chronic kidney disease 25030479; 19318041; 26179544; 25977923; 17657109; 16799480 IBIS 78 / 7739
3
(HPO:0001947) Renal tubular acidosis 17657109 IBIS 21 / 7739
4
(HPO:0012594) Microalbuminuria 25232851; 18596579 IBIS 6 / 7739
5
(HPO:0000093) Proteinuria Frequent [IBIS] Frequent [Orphanet] 25232851; 25030479; 18596579; 19318041; 26179544; 25977923; 17657109; 19092368; 16799480; 22431073 IBIS 169 / 7739
6
(HPO:0012213) Decreased glomerular filtration rate 25232851; 19318041; 26179544 IBIS 21 / 7739
7
(HPO:0000103) Polyuria 19318041; 17657109 IBIS 60 / 7739
8
(HPO:0000124) Renal tubular dysfunction Frequent [Orphanet] 17657109 IBIS 46 / 7739
9
(HPO:0000790) Hematuria Rare [IBIS] Very frequent [Orphanet] 17657109 IBIS 106 / 7739
10
(HPO:0005576) Tubulointerstitial fibrosis 17657109; 16799480 IBIS 32 / 7739
11
(HPO:0000096) Glomerulosclerosis 25030479; 26179544; 17657109; 16799480 IBIS 11 / 7739
12
(HPO:0003076) Glycosuria 17657109 IBIS 32 / 7739
13
(HPO:0000100) Nephrotic syndrome Very frequent [Orphanet] 16799480 IBIS 83 / 7739
14
(HPO:0000092) Tubular atrophy 17657109; 16799480 IBIS 28 / 7739
15
(HPO:0012212) Abnormal glomerular filtration rate 18596579 IBIS 4 / 7739
16
(HPO:0012207) Reduced sperm motility 19318041 IBIS 5 / 7739
17
(HPO:0012214) Increased glomerular filtration rate 19318041 IBIS 1 / 7739
18
(HPO:0012622) Chronic kidney disease 25977923 IBIS 32 / 7739
19
(HPO:0012211) Abnormal renal physiology 16799480 IBIS 23 / 7739
20
(HPO:0003158) Hyposthenuria 19318041 IBIS 6 / 7739
21
(HPO:0001970) Tubulointerstitial nephritis 26179544 IBIS 27 / 7739
22
(HPO:0000083) Renal insufficiency Very frequent [Orphanet] 25987173; 25030479; 19318041; 26179544; 19092368; 9163848; 22431073 IBIS 232 / 7739
23
(HPO:0008341) Distal renal tubular acidosis 17657109 IBIS 6 / 7739
24
(HPO:0003355) Aminoaciduria 17657109 IBIS 65 / 7739
25
(HPO:0000798) Oligospermia 19318041 IBIS 13 / 7739
26
(HPO:0004727) Impaired renal concentrating ability 17657109 IBIS 6 / 7739
27
(HPO:0000290) Abnormality of the forehead 19318041 IBIS 5 / 7739
28
(HPO:0000426) Prominent nasal bridge 19318041 IBIS 121 / 7739
29
(HPO:0000217) Xerostomia 17657109 IBIS 35 / 7739
30
(HPO:0000629) Periorbital fullness 19318041 IBIS 13 / 7739
31
(HPO:0000366) Abnormality of the nose 19318041 IBIS 56 / 7739
32
(HPO:0000280) Coarse facial features Frequent [Orphanet] 19318041 IBIS 189 / 7739
33
(HPO:0000303) Mandibular prognathia 19318041 IBIS 179 / 7739
34
(HPO:0000336) Prominent supraorbital ridges 19318041 IBIS 45 / 7739
35
(HPO:0012471) Thick vermilion border Frequent [Orphanet] 19318041 IBIS 115 / 7739
36
(HPO:0000414) Bulbous nose 19318041 IBIS 63 / 7739
37
(HPO:0000574) Thick eyebrow 19318041 IBIS 96 / 7739
38
(HPO:0000518) Cataract Frequent [Orphanet] 25660182; 17657109; 19092368 IBIS 454 / 7739
39
(HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 17657109 IBIS 124 / 7739
40
(HPO:0000503) Tortuosity of conjunctival vessels 17657109 IBIS 3 / 7739
41
(HPO:0007957) Corneal opacity 19318041; 19092368 IBIS 84 / 7739
42
(HPO:0000531) Corneal crystals Frequent [IBIS] 25232851; 25030479; 19318041; 25660182; 17657109 IBIS 9 / 7739
43
(HPO:0000633) Decreased lacrimation 17657109 IBIS 6 / 7739
44
(HPO:0005101) High-frequency hearing impairment 25232851 IBIS 16 / 7739
45
(HPO:0000360) Tinnitus 25232851; 19318041; 25660182 IBIS 29 / 7739
46
(HPO:0002321) Vertigo 25232851; 19318041; 25660182; 22431073 IBIS 58 / 7739
47
(HPO:0000358) Posteriorly rotated ears 19318041 IBIS 163 / 7739
48
(HPO:0009748) Large earlobe 19318041 IBIS 27 / 7739
49
(HPO:0000408) Progressive sensorineural hearing impairment 19318041 IBIS 28 / 7739
50
(HPO:0000365) Hearing impairment Very frequent [Orphanet] 25660182; 17657109 IBIS 539 / 7739
51
(HPO:0002459) Dysautonomia 25232851; 17657109 IBIS 34 / 7739
52
(HPO:0000716) Depression 17657109; 23448452 IBIS 99 / 7739
53
(HPO:0012532) Chronic pain 18596579 IBIS 3 / 7739
54
(HPO:0000751) Personality changes 17657109 IBIS 33 / 7739
55
(HPO:0002301) Hemiplegia 17657109 IBIS 42 / 7739
56
(HPO:0001250) Seizures Occasional [Orphanet] 17657109 IBIS 1245 / 7739
57
(HPO:0012432) Chronic fatigue 22431073 IBIS 5 / 7739
58
(HPO:0007185) Loss of consciousness 19092368 IBIS 9 / 7739
59
(HPO:0012531) Pain 25232851; 18596579; 17657109 IBIS 9 / 7739
60
(HPO:0003388) Easy fatigability 19092368 IBIS 34 / 7739
61
(HPO:0001959) Polydipsia 17657109 IBIS 43 / 7739
62
(HPO:0010829) Impaired temperature sensation 19318041 IBIS 5 / 7739
63
(HPO:0003401) Paresthesia Frequent [IBIS] 25987173; 25232851; 25030479; 18596579; 26179544; 25660182; 17657109; 19092368; 22431073 IBIS 42 / 7739
64
(HPO:0012378) Fatigue 25232851; 17657109 IBIS 50 / 7739
65
(HPO:0002315) Headache 25232851 IBIS 175 / 7739
66
(HPO:0100543) Cognitive impairment Occasional [Orphanet] 17657109 IBIS 230 / 7739
67
(HPO:0009806) Nephrogenic diabetes insipidus 17657109 IBIS 8 / 7739
68
(HPO:0000821) Hypothyroidism 19318041 IBIS 141 / 7739
69
(HPO:0100749) Chest pain 25232851; 19092368; 22431073 IBIS 92 / 7739
70
(HPO:0009763) Limb pain 25987173; 25232851; 19318041 IBIS 7 / 7739
71
(HPO:0002829) Arthralgia 19318041; 25977923; 22431073 IBIS 79 / 7739
72
(HPO:0011024) Abnormality of the gastrointestinal tract 17657109 IBIS 5 / 7739
73
(HPO:0002019) Constipation Frequent [IBIS] 25232851; 17657109 IBIS 194 / 7739
74
(HPO:0002014) Diarrhea Frequent [IBIS] 25987173; 25232851; 25030479; 18596579; 19318041; 17657109; 22431073 IBIS 225 / 7739
75
(HPO:0002579) Gastrointestinal dysmotility 25232851 IBIS 11 / 7739
76
(HPO:0002027) Abdominal pain Very frequent [Orphanet] 25232851; 25030479; 18596579; 19318041; 25977923; 17657109; 22431073 IBIS 184 / 7739
77
(HPO:0002039) Anorexia Rare [IBIS] Frequent [Orphanet] 2510982 IBIS 62 / 7739
78
(HPO:0003270) Abdominal distention 17657109 IBIS 46 / 7739
79
(HPO:0002018) Nausea 25232851; 17657109 IBIS 44 / 7739
80
(HPO:0002013) Vomiting Occasional [IBIS] 25232851; 17657109 IBIS 191 / 7739
81
(HPO:0000970) Anhidrosis 25232851; 17657109 IBIS 24 / 7739
82
(HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 16403380 IBIS 24 / 7739
83
(HPO:0001014) Angiokeratoma Frequent [IBIS] 25987173; 25232851; 25030479; 18596579; 19318041; 26179544; 25977923; 25660182; 17657109; 19092368; 9163848 IBIS 5 / 7739
84
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 16403380 IBIS 216 / 7739
85
(HPO:0000966) Hypohidrosis Frequent [IBIS] 25987173; 25232851; 25030479; 18596579; 19318041; 26179544; 25660182; 17657109; 19092368 IBIS 41 / 7739
86
(HPO:0000988) Skin rash 16799480 IBIS 98 / 7739
87
(HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 19092368 IBIS 66 / 7739
88
(HPO:0001071) Angiokeratoma corporis diffusum 19318041; 17657109; 16799480 IBIS 7 / 7739
89
(HPO:0001712) Left ventricular hypertrophy 25987173; 25232851; 25030479; 18596579; 17657109; 19092368; 22431073 IBIS 76 / 7739
90
(HPO:0001659) Aortic regurgitation 25030479 IBIS 36 / 7739
91
(HPO:0012250) ST segment depression 19092368 IBIS 7 / 7739
92
(HPO:0005145) Coronary artery stenosis 19318041 IBIS 5 / 7739
93
(HPO:0005165) Shortened PR interval 19318041; 19092368 IBIS 9 / 7739
94
(HPO:0001662) Bradycardia 25030479; 19318041 IBIS 41 / 7739
95
(HPO:0005180) Tricuspid regurgitation 25232851 IBIS 20 / 7739
96
(HPO:0004308) Ventricular arrhythmia 25030479; 19092368 IBIS 46 / 7739
97
(HPO:0001658) Myocardial infarction 25030479; 19092368; 19092368 IBIS 30 / 7739
98
(HPO:0001681) Angina pectoris 25987173; 25030479; 19092368 IBIS 22 / 7739
99
(HPO:0001634) Mitral valve prolapse 19092368 IBIS 69 / 7739
100
(HPO:0012664) Reduced ejection fraction 19318041 IBIS 32 / 7739
101
(HPO:0012232) Shortened QT interval 19092368 IBIS 7 / 7739
102
(HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 25987173 IBIS 41 / 7739
103
(HPO:0002140) Ischemic stroke Very frequent [Orphanet] 25030479; 19318041 IBIS 70 / 7739
104
(HPO:0001279) Syncope 25232851; 19092368 IBIS 94 / 7739
105
(HPO:0012249) Abnormal ST segment 17657109 IBIS 3 / 7739
106
(HPO:0004755) Supraventricular tachycardia 25030479; 19318041 IBIS 20 / 7739
107
(HPO:0001649) Tachycardia 17657109 IBIS 53 / 7739
108
(HPO:0005110) Atrial fibrillation 19318041 IBIS 71 / 7739
109
(HPO:0001685) Myocardial fibrosis 25987173; 25030479 IBIS 30 / 7739
110
(HPO:0004756) Ventricular tachycardia 19318041 IBIS 55 / 7739
111
(HPO:0001653) Mitral regurgitation 25232851; 17657109; 19092368 IBIS 64 / 7739
112
(HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 25030479; 19092368 IBIS 69 / 7739
113
(HPO:0012273) Increased carotid artery intimal medial thickness 25030479 IBIS 2 / 7739
114
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 17657109; 16799480 IBIS 192 / 7739
115
(HPO:0001645) Sudden cardiac death 25030479; 19092368 IBIS 84 / 7739
116
(HPO:0001670) Asymmetric septal hypertrophy 19092368 IBIS 19 / 7739
117
(HPO:0011675) Arrhythmia Occasional [Orphanet] 25987173; 25030479; 18596579; 19318041; 25977923; 17657109; 19092368 IBIS 226 / 7739
118
(HPO:0002617) Aneurysm 17657109 IBIS 34 / 7739
119
(HPO:0001678) Atrioventricular block 17657109; 19092368 IBIS 59 / 7739
120
(HPO:0005157) Concentric hypertrophic cardiomyopathy 25987173 IBIS 5 / 7739
121
(HPO:0005115) Supraventricular arrhythmia 19092368 IBIS 13 / 7739
122
(HPO:0001677) Coronary artery disease Occasional [Orphanet] 17657109 IBIS 58 / 7739
123
(HPO:0001635) Congestive heart failure Very frequent [Orphanet] 25987173; 25030479; 17657109; 19092368 IBIS 232 / 7739
124
(HPO:0001297) Stroke 25987173; 19318041; 26179544; 17657109; 19092368; 22431073 IBIS 44 / 7739
125
(HPO:0001654) Abnormality of the heart valves 25232851; 18596579; 19318041; 17657109; 19092368 IBIS 49 / 7739
126
(HPO:0010872) EKG: T-wave inversion 25232851; 19092368 IBIS 19 / 7739
127
(HPO:0200128) Biventricular hypertrophy 25030479 IBIS 11 / 7739
128
(HPO:0001688) Sinus bradycardia 18596579 IBIS 18 / 7739
129
(HPO:0001962) Palpitations 19092368; 22431073 IBIS 62 / 7739
130
(HPO:0004948) Vascular tortuosity 17657109 IBIS 5 / 7739
131
(HPO:0002326) Transient ischemic attack 25030479; 19318041; 17657109; 19092368 IBIS 13 / 7739
132
(HPO:0005315) Peripheral artery occlusive disease 17657109 IBIS 7 / 7739
133
(HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 25030479; 19092368 IBIS 55 / 7739
134
(HPO:0000822) Hypertension Occasional [Orphanet] 25030479; 17657109; 19092368; 9163848; 16799480 IBIS 224 / 7739
135
(HPO:0002616) Aortic root dilatation 19092368 IBIS 27 / 7739
136
(HPO:0001639) Hypertrophic cardiomyopathy 19318041 IBIS 137 / 7739
137
(HPO:0001903) Anemia Very frequent [Orphanet] 19318041 IBIS 289 / 7739
138
(HPO:0010990) Abnormality of the common coagulation pathway 19318041 IBIS 1 / 7739
139
(HPO:0001977) Abnormal thrombosis 25030479 IBIS 11 / 7739
140
(HPO:0001004) Lymphedema Occasional [Orphanet] 19092368 IBIS 62 / 7739
141
(HPO:0001945) Fever Occasional [Orphanet] 25977923; 17657109 IBIS 218 / 7739
142
(HPO:0010741) Edema of the lower limbs 19318041; 26179544; 16799480 IBIS 34 / 7739
143
(HPO:0003565) Elevated erythrocyte sedimentation rate 19318041 IBIS 31 / 7739
144
(HPO:0000969) Edema 25030479 IBIS 117 / 7739
145
(HPO:0003138) Increased blood urea nitrogen 17657109; 19092368 IBIS 14 / 7739
146
(HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 9163848 IBIS 60 / 7739
147
(HPO:0003259) Elevated serum creatinine 16799480 IBIS 31 / 7739
148
(HPO:0002046) Heat intolerance 17657109 IBIS 13 / 7739
149
(HPO:0001955) Unexplained fevers 19318041 IBIS 7 / 7739
150
(HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 25232851; 18596579 IBIS 58 / 7739
151
(HPO:0004343) Abnormality of glycosphingolipid metabolism 16799480 IBIS 3 / 7739
152
(HPO:0002094) Dyspnea 25030479; 25977923; 19092368 IBIS 132 / 7739
153
(HPO:0006536) Obstructive lung disease 17657109 IBIS 7 / 7739
154
(HPO:0003394) Muscle cramps 18596579 IBIS 106 / 7739
155
(HPO:0003546) Exercise intolerance 25232851; 25030479; 19318041; 17657109 IBIS 62 / 7739
156
(MedDRA:10016825) Flushing 25232851 IBIS 2 / 7739
157
(HPO:0045059) Hyperkeratotic papule 16403380 IBIS 4 / 7739
158
(MedDRA:10065297) Urinary lipids present 17657109 IBIS 1 / 7739
159
(MedDRA:10054805) Macroangiopathy 25977923 IBIS 1 / 7739
160
(OMIM) Recessed forehead 19318041 IBIS 2 / 7739
161
(HPO:0030148) Heart murmur 25030479 IBIS 29 / 7739
162
(MedDRA:10059186) Early satiety 25030479 IBIS 4 / 7739
163
(MedDRA:10007595) Cardiac output decreased 19318041 IBIS 3 / 7739
164
(HPO:0012719) Functional abnormality of the gastrointestinal tract 25232851; 18596579; 25977923; 17657109; 19092368 IBIS 17 / 7739
165
(MedDRA:10034872) Phenylketonuria 25232851 IBIS 1 / 7739
166
(OMIM) Neuropathic pain Frequent [IBIS] 25232851; 18596579; 17657109 IBIS 2 / 7739
167
(HPO:0012841) Retinal vascular tortuosity 25232851; 17657109 IBIS 3 / 7739
168
(MedDRA:10007697) Carpal tunnel syndrome 19318041 IBIS 16 / 7739
169
(MedDRA:10072731) White matter lesion 25232851 IBIS 7 / 7739
170
(MedDRA:10019345) Heat stroke 25232851 IBIS 1 / 7739
171
(MedDRA:10052337) Diastolic dysfunction 25030479; 19318041 IBIS 14 / 7739
172
(HPO:0030018) Decreased female libido 22431073 IBIS 1 / 7739
173
(OMIM) Decreased exercise capacity 19092368 IBIS 2 / 7739
174
(MedDRA:10062198) Microangiopathy 25977923 IBIS 4 / 7739
175
(HPO:0002500) Abnormality of the cerebral white matter 25232851 IBIS 73 / 7739
176
(MedDRA:10070893) Globotriaosylceramide increased 25030479 IBIS 1 / 7739
177
(MedDRA:10050380) Electrocardiogram T wave abnormal 17657109 IBIS 5 / 7739
178
(MedDRA:10042458) Suicidal ideation 17657109 IBIS 1 / 7739
179
(HPO:0430021) Abnormality of the common carotid artery 25030479 IBIS 2 / 7739

Associated genes:

GLA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GLA rs104894828 pathogenic RCV000011461.2
GLA rs104894828 pathogenic RCV000011462.4
GLA rs104894829 pathogenic RCV000011463.5
GLA rs104894830 pathogenic RCV000011464.5
GLA rs104894830 pathogenic RCV000179267.1
GLA rs104894831 pathogenic RCV000011466.7
GLA rs104894832 pathogenic RCV000179268.1
GLA rs104894832 pathogenic RCV000011469.5
GLA rs104894834 pathogenic RCV000011470.7
GLA rs104894834 pathogenic RCV000078275.4
GLA rs104894835 pathogenic RCV000011471.4
GLA rs104894836 pathogenic RCV000011472.4
GLA rs104894837 pathogenic RCV000011473.4
GLA rs104894838 pathogenic RCV000011476.3
GLA rs104894839 pathogenic RCV000011483.4
GLA rs104894840 pathogenic RCV000011478.9
GLA rs104894841 pathogenic RCV000011479.7
GLA rs104894842 pathogenic RCV000011489.7
GLA rs104894843 likely pathogenic RCV000153315.3
GLA rs104894843 pathogenic RCV000011491.7
GLA rs104894844 pathogenic RCV000011493.7
GLA rs104894846 pathogenic RCV000011510.2
GLA rs104894847 pathogenic RCV000011511.2
GLA rs104894848 pathogenic RCV000011513.7
GLA rs104894849 pathogenic RCV000011514.5
GLA rs104894851 pathogenic RCV000011517.5
GLA rs104894852 pathogenic RCV000011518.7
GLA rs113173389 pathogenic RCV000078274.4
GLA rs140329381 pathogenic RCV000078299.4
GLA rs148158093 likely pathogenic RCV000078277.4
GLA rs199473684 pathogenic RCV000154318.1
GLA rs199473684 pathogenic RCV000011515.4
GLA rs28935195 pathogenic RCV000011474.6
GLA rs28935196 pathogenic RCV000011475.2
GLA rs28935197 pathogenic RCV000011477.7
GLA rs28935485 pathogenic RCV000011468.5
GLA rs28935486 pathogenic RCV000011480.4
GLA rs28935487 pathogenic RCV000011481.7
GLA rs28935488 pathogenic RCV000011482.7
GLA rs28935489 pathogenic RCV000011484.4
GLA rs28935491 pathogenic RCV000011487.2
GLA rs28935492 pathogenic RCV000011488.7
GLA rs28935493 pathogenic RCV000011490.9
GLA rs28935494 pathogenic RCV000011492.5
GLA rs28935495 pathogenic RCV000011521.2
GLA rs372966991 pathogenic RCV000175540.1
GLA rs372966991 likely pathogenic RCV000078276.4
GLA rs387906483 pathogenic RCV000011485.2
GLA rs397515873 likely pathogenic RCV000035310.2
GLA rs398123197 pathogenic RCV000078259.4
GLA rs398123198 pathogenic RCV000078263.4
GLA rs398123199 likely pathogenic RCV000078264.4
GLA rs398123201 likely pathogenic RCV000078266.4
GLA rs398123203 pathogenic RCV000078268.4
GLA rs398123203 pathogenic RCV000173078.1
GLA rs398123205 likely pathogenic RCV000078270.4
GLA rs398123206 pathogenic RCV000078271.4
GLA rs398123207 pathogenic RCV000078272.4
GLA rs398123208 pathogenic RCV000078273.4
GLA rs398123210 pathogenic RCV000078281.4
GLA rs398123211 pathogenic RCV000078282.4
GLA rs398123212 pathogenic RCV000078283.4
GLA rs398123214 pathogenic RCV000078285.4
GLA rs398123216 pathogenic RCV000078288.4
GLA rs398123217 pathogenic RCV000078290.4
GLA rs398123218 pathogenic RCV000078291.4
GLA rs398123219 pathogenic RCV000078292.4
GLA rs398123220 pathogenic RCV000078295.4
GLA rs398123221 pathogenic RCV000078297.4
GLA rs398123222 likely pathogenic RCV000078298.4
GLA rs398123223 pathogenic RCV000078300.4
GLA rs398123224 pathogenic RCV000078301.4
GLA rs398123225 pathogenic RCV000078303.4
GLA rs398123226 pathogenic RCV000078304.4
GLA rs398123227 likely pathogenic RCV000078305.4
GLA rs398123228 pathogenic RCV000078306.4
GLA rs398123229 pathogenic RCV000078308.4
GLA rs727503072 likely pathogenic RCV000150748.1
GLA rs727503948 pathogenic RCV000153319.3
GLA rs727503949 pathogenic RCV000153320.3
GLA rs727503950 likely pathogenic RCV000153323.3
GLA rs727504348 likely pathogenic RCV000154469.1
GLA rs727504350 pathogenic RCV000176999.1
GLA rs727504773 likely pathogenic RCV000156088.1
GLA rs730880454 pathogenic RCV000173076.1
GLA rs797044497 pathogenic RCV000153316.3
GLA rs797044498 pathogenic RCV000153317.3
GLA rs797044499 pathogenic RCV000153318.3
GLA rs797044500 pathogenic RCV000153325.3
GLA rs797044669 pathogenic RCV000175538.1
GLA rs797044670 pathogenic RCV000175539.1
GLA rs797044702 pathogenic RCV000176998.1
GLA rs797044727 pathogenic RCV000178050.1
GLA rs797044746 likely pathogenic RCV000178723.1
GLA rs797044747 pathogenic RCV000178724.1
GLA rs797044748 pathogenic RCV000178725.1
GLA rs797044768 pathogenic RCV000179266.1
GLA rs797044769 pathogenic RCV000179269.1
GLA rs797044774 pathogenic RCV000179727.1
GLA rs797044775 pathogenic RCV000179728.1
GLA rs797044776 pathogenic RCV000179729.1
GLA rs797044777 pathogenic RCV000179730.1

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Kint (1970) showed that the activity of alpha-galactosidase is deficient in leukocytes of male patients with Fabry disease and that affected females can be identified by this method. Moser (1983) considered the urinary trihexoside assay, described by Cable ...
Clinical Description OMIM In his first paper on this subject, Fabry (1898) called the skin lesions 'purpura papulosa haemorrhagica Hebrae,' suggesting that they had previously been described by Hebra, the famous Austrian dermatologist. Affected individuals had painful crises in the extremities, ...
Genotype-Phenotype Correlations OMIM Among 32 children and 78 adults with Fabry disease, Auray-Blais et al. (2008) identified 35 different mutations in the GLA gene, including missense (76.4%), nonsense (16.4%), frameshift (3.6%), and splice site defects (3.6%). Forty-one of the patients were ...
Molecular genetics OMIM Romeo and Migeon (1970) presented evidence for a structural change in the GLA enzyme in patients with Fabry disease. The disease-associated enzymes showed slower heat inactivation and different K(m) values compared to normal.

By Southern blot ...

Population genetics OMIM The incidence of Fabry disease has been estimated at 1 in 55,000 male births. However, this figure is almost certainly a substantial underestimate of the true frequency, particularly of milder variants of the disease (Clarke, 2007).

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Diagnosis GeneReviews Fabry disease should be considered in males and females with the following signs:...
Clinical Description GeneReviews Fabry disease encompasses a spectrum of phenotypes ranging from the severe classic phenotype to atypical forms that often lack the characteristic skin lesions and acroparathesias, but have associated end-stage renal disease (ESRD), cardiac manifestations, and risk for neurologic complications such as stroke/transient ischemic attack (TIA)....
Genotype-Phenotype Correlations GeneReviews Efforts to establish genotype-phenotype correlations have been limited because each family with Fabry disease has a private mutation. ...
Differential Diagnosis GeneReviews The pain of Fabry disease is usually associated with a low-grade fever and an elevated erythrocyte sedimentation rate (ESR); these symptoms have frequently led to the misdiagnosis of rheumatic fever, neurosis, or erythromelalgia....
Management GeneReviews To establish the extent of disease in an individual diagnosed with Fabry disease, the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....