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	fabry disease

Disease ID	65
Disease	fabry disease
Definition	An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Synonym	alpha galactosidase a defic dis alpha galactosidase a deficiency alpha galactosidase a deficiency disease alpha galactosidase deficiency alpha-galactosidase a deficiency alpha-galactosidase a deficiency (disorder) alpha-galactosidase a deficiency disease alpha-galactosidase-a deficiency anderson fabry disease anderson-fabry disease angiokeratoma corporis diffusum angiokeratoma corporis diffusum universale angiokeratoma diffuse angiokeratoma, diffuse cardiovasorenal syndrome ceramide lactoside lipidosis ceramide trihexosidase deficiency ceramide trihexoside lipoidosis ceramide trihexoside lipoidosis fabrys disease ceramide trihexosidosis deficiency of alpha-galactosidase deficiency of alpha-galactosidase (disorder) deficiency of melibiase deficiency, alpha-galactosidase a deficiency, ceramide trihexosidase deficiency, gla diffuse angiokeratoma disease fabry disease fabry's fabri disease fabry dis fabry disease [disease/finding] fabry syndrome fabry's disease fabry's disease (disorder) fabrys disease gla gla deficiency hereditary dystopic lipidosis lactosyl ceramidosis lipidosis, hereditary dystopic ruiter-pompen syndrome sweeley-klionsky disease thesaurismosis hereditaria thesaurismosis lipoidica
Orphanet	ORPHANET:324
OMIM	OMIM:301500 OMIM:300644
DOID	DOID:14499
UMLS	C0002986
MeSH	D000795
SNOMED-CT	SNOMEDCT_US_2016_09_01:124464003;SNOMEDCT_US_2016_09_01:16652001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:47) C0442874 \| neuropathy \| 6 C0022658 \| renal disease \| 4 C0007194 \| hypertrophic cardiomyopathy \| 4 C0002985 \| angiokeratoma \| 3 C0042373 \| vascular disease \| 3 C0033687 \| proteinuria \| 3 C0035078 \| renal failure \| 3 C0031117 \| peripheral neuropathy \| 2 C0878544 \| cardiomyopathy \| 2 C0020538 \| hypertension \| 2 C0022658 \| nephropathy \| 2 C0033117 \| priapism \| 2 C0345335 \| multicystic kidney \| 1 C0085078 \| lysosomal storage disorders \| 1 C0032633 \| dyshidrosis \| 1 C0031069 \| familial mediterranean fever \| 1 C0409974 \| lupus erythematosus \| 1 C0154723 \| migraine with aura \| 1 C0002986 \| fabry disease \| 1 C0002726 \| amyloidosis \| 1 C0017661 \| iga nephropathy \| 1 C1960469 \| left ventricular noncompaction \| 1 C0023434 \| small lymphocytic lymphoma \| 1 C0023434 \| lymphocytic lymphoma \| 1 C0085078 \| lysosomal storage diseases \| 1 C0235270 \| keratopathy \| 1 C0018799 \| cardiac disease \| 1 C0259749 \| autonomic neuropathy \| 1 C0007785 \| cerebral infarct \| 1 C0022661 \| end stage renal disease \| 1 C0026848 \| myopathy \| 1 C0034735 \| raynaud's phenomenon \| 1 C0007785 \| cerebral infarction \| 1 C1318505 \| congenital agammaglobulinemia \| 1 C0024299 \| lymphoma \| 1 C0403416 \| crescentic glomerulonephritis \| 1 C0149931 \| migraine \| 1 C0263639 \| angiokeratoma of fordyce \| 1 C0085078 \| lysosomal storage disease \| 1 C0011570 \| depression \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0022661 \| end-stage renal disease \| 1 C0022679 \| cystic kidney \| 1 C0022735 \| klinefelter syndrome \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0001768 \| agammaglobulinemia \| 1 C0019829 \| hodgkin lymphoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2717 \| GLA \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 2717 \| GLA \| CIPHER;CTD_human 3586 \| IL10 \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 4846 \| NOS3 \| CIPHER 7124 \| TNF \| CIPHER 7421 \| VDR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 11174 \| ADAMTS6 \| 2.427 \| DISEASES 60529 \| ALX4 \| 1.344 \| DISEASES 347527 \| ARSH \| 1.133 \| DISEASES 682 \| BSG \| 1.464 \| DISEASES 912 \| CD1D \| 1.986 \| DISEASES 23607 \| CD2AP \| 1.958 \| DISEASES 4166 \| CHST6 \| 1.528 \| DISEASES 84735 \| CNDP1 \| 1.353 \| DISEASES 1306 \| COL15A1 \| 2.066 \| DISEASES 1282 \| COL4A1 \| 2.749 \| DISEASES 1351 \| COX8A \| 1.279 \| DISEASES 1471 \| CST3 \| 2.075 \| DISEASES 5476 \| CTSA \| 4.226 \| DISEASES 1621 \| DBH \| 1.596 \| DISEASES 1644 \| DDC \| 1.469 \| DISEASES 10117 \| ENAM \| 1.092 \| DISEASES 2108 \| ETFA \| 3.171 \| DISEASES 2170 \| FABP3 \| 1.184 \| DISEASES 23017 \| FAIM2 \| 1.299 \| DISEASES 2200 \| FBN1 \| 1.04 \| DISEASES 344018 \| FIGLA \| 2.512 \| DISEASES 2319 \| FLOT2 \| 1.504 \| DISEASES 2517 \| FUCA1 \| 2.502 \| DISEASES 57165 \| GJC2 \| 1.204 \| DISEASES 2760 \| GM2A \| 1.54 \| DISEASES 5654 \| HTRA1 \| 2.978 \| DISEASES 3376 \| IARS \| 1.216 \| DISEASES 3423 \| IDS \| 1.7 \| DISEASES 3590 \| IL11RA \| 2.064 \| DISEASES 64423 \| INF2 \| 1.487 \| DISEASES 3850 \| KRT3 \| 1.348 \| DISEASES 3916 \| LAMP1 \| 2.102 \| DISEASES 3920 \| LAMP2 \| 3.509 \| DISEASES 51360 \| MBTPS2 \| 1.279 \| DISEASES 219541 \| MED19 \| 2.49 \| DISEASES 10724 \| MGEA5 \| 1.185 \| DISEASES 4607 \| MYBPC3 \| 2.409 \| DISEASES 4625 \| MYH7 \| 1.973 \| DISEASES 4668 \| NAGA \| 4.922 \| DISEASES 4855 \| NOTCH4 \| 1.316 \| DISEASES 256933 \| NPB \| 1.428 \| DISEASES 8481 \| OFD1 \| 1.378 \| DISEASES 5287 \| PIK3C2B \| 1.875 \| DISEASES 5420 \| PODXL \| 2.195 \| DISEASES 5660 \| PSAP \| 2.642 \| DISEASES 11168 \| PSIP1 \| 1.009 \| DISEASES 57096 \| RPGRIP1 \| 1.174 \| DISEASES 6161 \| RPL32 \| 1.951 \| DISEASES 10670 \| RRAGA \| 2.145 \| DISEASES 6335 \| SCN9A \| 2.297 \| DISEASES 83959 \| SLC4A11 \| 1.354 \| DISEASES 6428 \| SRSF3 \| 1.466 \| DISEASES 8869 \| ST3GAL5 \| 1.828 \| DISEASES 10618 \| TGOLN2 \| 2.051 \| DISEASES 84000 \| TMPRSS13 \| 1.716 \| DISEASES 7137 \| TNNI3 \| 1.791 \| DISEASES 7138 \| TNNT1 \| 1.154 \| DISEASES 7139 \| TNNT2 \| 2.028 \| DISEASES 11277 \| TREX1 \| 2.359 \| DISEASES 29914 \| UBIAD1 \| 1.553 \| DISEASES 7357 \| UGCG \| 1.986 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) GLA \| Xq22.1

Disease ID	65
Disease	fabry disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:65) HP:0011710 \| Bundle branch block HP:0002571 \| Achalasia HP:0002094 \| Dyspnea HP:0000518 \| Cataract HP:0012378 \| Fatigue HP:0100543 \| Cognitive impairment HP:0004322 \| Short stature HP:0000873 \| Diabetes insipidus HP:0006510 \| Chronic obstructive pulmonary disease HP:0000365 \| Hearing impairment HP:0001482 \| Subcutaneous nodule HP:0002027 \| Abdominal pain HP:0100585 \| Telangiectasia of the skin HP:0002376 \| Developmental regression HP:0100579 \| Mucosal telangiectasiae HP:0001004 \| Lymphedema HP:0000093 \| Proteinuria HP:0000083 \| Renal insufficiency HP:0001635 \| Congestive heart failure HP:0001637 \| Abnormality of the myocardium HP:0002829 \| Arthralgia HP:0100820 \| Glomerulopathy HP:0001653 \| Mitral regurgitation HP:0003326 \| Myalgia HP:0004306 \| Abnormality of the endocardium HP:0002097 \| Emphysema HP:0003119 \| Abnormality of lipid metabolism HP:0000822 \| Hypertension HP:0000112 \| Nephropathy HP:0002017 \| Nausea and vomiting HP:0001639 \| Hypertrophic cardiomyopathy HP:0000790 \| Hematuria HP:0000407 \| Sensorineural hearing impairment HP:0002823 \| Abnormality of the femur HP:0000739 \| Anxiety HP:0001903 \| Anemia HP:0002024 \| Malabsorption HP:0001681 \| Angina pectoris HP:0000708 \| Behavioral abnormality HP:0000962 \| Hyperkeratosis HP:0001250 \| Seizures HP:0000524 \| Conjunctival telangiectasia HP:0007957 \| Corneal opacity HP:0002093 \| Respiratory insufficiency HP:0001646 \| Abnormality of the aortic valve HP:0001712 \| Left ventricular hypertrophy HP:0000966 \| Hypohidrosis HP:0011675 \| Arrhythmia HP:0001131 \| Corneal dystrophy HP:0003077 \| Hyperlipidemia HP:0001945 \| Fever HP:0000648 \| Optic atrophy HP:0000823 \| Delayed puberty HP:0000179 \| Thick lower lip vermilion HP:0002321 \| Vertigo HP:0001369 \| Arthritis HP:0002326 \| Transient ischemic attack HP:0000100 \| Nephrotic syndrome HP:0000716 \| Depression HP:0001678 \| Atrioventricular block HP:0000280 \| Coarse facial features HP:0001014 \| Angiokeratoma HP:0004349 \| Reduced bone mineral density HP:0002039 \| Anorexia HP:0000091 \| Abnormality of the renal tubule
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0001297 \| Cerebral vascular events \| 7 HP:0001712 \| Left ventricular hypertrophy \| 6 HP:0001714 \| Ventricular hypertrophy \| 6 HP:0001014 \| Angiokeratoma \| 5 HP:0001639 \| Hypertrophic cardiomyopathy \| 4 HP:0012531 \| Pain \| 3 HP:0000093 \| Proteinuria \| 3 HP:0000083 \| Renal insufficiency \| 3 HP:0009830 \| Peripheral neuritis \| 2 HP:0001945 \| Fever \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0000112 \| Nephropathy \| 2 HP:0000822 \| Hypertension \| 2 HP:0001638 \| Cardiomyopathy \| 2 HP:0200023 \| Priapism \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0004432 \| Agammaglobulinaemia \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0030682 \| Left ventricular noncompaction \| 1 HP:0001662 \| Bradycardia \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0000716 \| Depression \| 1 HP:0001685 \| Myocardial fibrosis \| 1 HP:0003756 \| Skeletal myopathy \| 1 HP:0009763 \| Limb pain \| 1 HP:0012577 \| Thin glomerular basement membrane \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001730 \| Progressive hearing impairment \| 1 HP:0000790 \| Hematuria \| 1 HP:0011458 \| Abdominal symptom \| 1 HP:0030880 \| Raynaud phenomenon \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0001342 \| Intracerebral hemorrhage \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002955 \| Granulomatosis \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0200034 \| Papule \| 1 HP:0001649 \| Tachycardia \| 1 HP:0008653 \| Crescentic glomerulonephritis \| 1

Disease ID	65
Disease	fabry disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:56) C2712340 \| dyspnoea C2598155 \| pain C2108077 \| atrioventricular block C2029884 \| hearing loss C1963154 \| renal failure C1962972 \| proteinuria C1868885 \| uncontrolled hypertension C1706559 \| cornea verticillata C1393529 \| vascular complications C1384666 \| hearing impairment C1318520 \| necrotizing vasculitis C0948600 \| organ failure C0948008 \| ischaemic stroke C0752303 \| urological manifestations C0752303 \| urological manifestation C0748159 \| pulmonary involvement C0598608 \| hyperhomocysteinaemia C0497327 \| dementia C0442874 \| neuropathy C0426576 \| gastrointestinal symptoms C0423716 \| neuropathic pain C0422833 \| ent symptoms C0376293 \| stigmata C0343190 \| cutaneous polyarteritis nodosa C0340425 \| hypertrophic cardiomyopathy C0333559 \| lacunar stroke C0260662 \| hearing disorders C0235031 \| neurological symptoms C0234230 \| burning pain C0234221 \| acroparaesthesia C0234131 \| motor dysfunction C0232306 \| left ventricular hypertrophy C0221505 \| cerebral lesions C0155765 \| microangiopathy C0151744 \| myocardial ischemia C0042373 \| vascular disease C0040053 \| thrombosis C0038454 \| stroke C0037285 \| skin manifestations C0035258 \| restless legs syndrome C0033975 \| psychosis C0033117 \| priapism C0031117 \| peripheral neuropathy C0029132 \| optic neuropathy C0025289 \| meningitis C0024236 \| lymphedema C0023223 \| leg ulcers C0022661 \| end-stage renal disease C0022658 \| renal disease C0022658 \| nephropathy C0022408 \| arthropathy C0018784 \| sensorineural hearing loss C0010036 \| corneal dystrophy C0004153 \| atherosclerosis C0002985 \| angiokeratomas C0002985 \| angiokeratoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:22) C0038454 \| stroke \| 7 C0149721 \| left ventricular hypertrophy \| 6 C0442874 \| neuropathy \| 6 C0022658 \| renal disease \| 4 C0007194 \| hypertrophic cardiomyopathy \| 3 C0030193 \| pain \| 3 C0423716 \| neuropathic pain \| 3 C0002985 \| angiokeratoma \| 3 C0035078 \| renal failure \| 3 C0033117 \| priapism \| 2 C0031117 \| peripheral neuropathy \| 2 C0042373 \| vascular disease \| 2 C0002985 \| angiokeratomas \| 2 C0019080 \| hemorrhage \| 2 C1384666 \| hearing loss \| 1 C0033687 \| proteinuria \| 1 C1393529 \| vascular complications \| 1 C0022661 \| end-stage renal disease \| 1 C0022658 \| nephropathy \| 1 C0948600 \| organ failure \| 1 C1706559 \| cornea verticillata \| 1 C0221505 \| cerebral lesions \| 1

Manually Genotype(Total Manually Genotypes:8)
Gene	Mutation	DOI	Article Title
-	E358K	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	I270T	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	H46L	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	Q250P	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	L311R	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	10511del4	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
-	8337del1 Del1b
188	doi:10.1038/gim.2014.28	Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α
GLA	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:33)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894828	20961863	2717	GLA	umls:C0002986	BeFree	A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease.	0.664863403	2011	GLA;RPL36A-HNRNPH2	X	101398467	C	T,A
rs104894833	22305854	2717	GLA	umls:C0002986	BeFree	Recently, male subjects harboring the c.196G>C nucleotide change which leads to the E66Q enzyme having low α-galactosidase A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	23724928	2717	GLA	umls:C0002986	BeFree	All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.	0.664863403	2013	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	22695894	2717	GLA	umls:C0002986	BeFree	On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	22874111	2717	GLA	umls:C0002986	BeFree	The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.	0.664863403	2012	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894833	20505683	2717	GLA	umls:C0002986	BeFree	Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.	0.664863403	2010	GLA;RPL36A-HNRNPH2	X	101403984	C	G
rs104894848	10845698	2717	GLA	umls:C0002986	BeFree	Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.	0.664863403	2000	GLA;HNRNPH2;RPL36A-HNRNPH2	X	101407710	C	G
rs104894848	9554750	2717	GLA	umls:C0002986	BeFree	Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.	0.664863403	1998	GLA;HNRNPH2;RPL36A-HNRNPH2	X	101407710	C	G
rs28935191	19621417	2717	GLA	umls:C0002986	UNIPROT	Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).	0.664863403	2009	NA	NA	NA	NA	NA
rs28935192	7599642	2717	GLA	umls:C0002986	UNIPROT	Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.	0.664863403	1995	NA	NA	NA	NA	NA
rs28935193	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	NA	NA	NA	NA	NA
rs28935194	NA	2717	GLA	umls:C0002986	UNIPROT	NA	0.664863403	NA	NA	NA	NA	NA	NA
rs28935195	11316246	2717	GLA	umls:C0002986	BeFree	A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101401713	C	T
rs28935195	7599642	2717	GLA	umls:C0002986	UNIPROT	Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.	0.664863403	1995	GLA;RPL36A-HNRNPH2	X	101401713	C	T
rs28935196	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101401695	A	G
rs28935197	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398942	T	C
rs28935198	10916280	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.	0.664863403	2000	NA	NA	NA	NA	NA
rs28935485	10838196	2717	GLA	umls:C0002986	UNIPROT	Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.	0.664863403	2000	GLA;RPL36A-HNRNPH2	X	101398534	G	C
rs28935486	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398795	T	A
rs28935487	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398789	T	A
rs28935488	8395937	2717	GLA	umls:C0002986	UNIPROT	Mutation analysis in patients with the typical form of Anderson-Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398563	A	G
rs28935489	7504405	2717	GLA	umls:C0002986	UNIPROT	Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398479	G	A
rs28935490	11668641	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: 20 novel GLA mutations in 35 families.	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101398432	C	A
rs28935490	14680977	2717	GLA	umls:C0002986	BeFree	Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.	0.664863403	2003	GLA;RPL36A-HNRNPH2	X	101398432	C	A
rs28935491	10208848	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.	0.664863403	1999	GLA;RPL36A-HNRNPH2	X	101398390	G	T
rs28935492	15712228	2717	GLA	umls:C0002986	UNIPROT	Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.	0.664863403	2005	GLA;RPL36A-HNRNPH2	X	101398386	C	G
rs28935493	11531972	2717	GLA	umls:C0002986	BeFree	The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA).	0.664863403	2001	GLA;RPL36A-HNRNPH2	X	101398074	C	T
rs28935493	NA	2717	GLA	umls:C0002986	UNIPROT	NA	0.664863403	NA	GLA;RPL36A-HNRNPH2	X	101398074	C	T
rs28935494	8395937	2717	GLA	umls:C0002986	UNIPROT	Mutation analysis in patients with the typical form of Anderson-Fabry disease.	0.664863403	1993	GLA;RPL36A-HNRNPH2	X	101398018	C	T,G
rs28935495	15162124	2717	GLA	umls:C0002986	UNIPROT	Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed.	0.664863403	2004	GLA;RPL36A-HNRNPH2	X	101398554	T	C
rs28936082	10208848	2717	GLA	umls:C0002986	UNIPROT	Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.	0.664863403	1999	NA	NA	NA	NA	NA
rs662	22796398	5444	PON1	umls:C0002986	BeFree	The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met in FD patients and correlate them with clinical symptoms.	0.000542884	2012	PON1	7	95308134	T	C
rs854560	22796398	5444	PON1	umls:C0002986	BeFree	The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met in FD patients and correlate them with clinical symptoms.	0.000542884	2012	PON1	7	95316772	A	C,G,N,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004306	Abnormality of the endocardium	MP:0009889	persistence of medial edge epithelium during palatal shelf fusion	palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam
HP:0001646	Abnormality of the aortic valve	MP:0012167	abnormal epigenetic regulation of gene expression	any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA
HP:0000091	Abnormality of the renal tubule	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000179	Thick lower lip vermilion	MP:0005170	cleft upper lip	defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences
HP:0002017	Nausea and vomiting	MP:0010426	abnormal heart and great artery attachment	any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0003119	Abnormality of lipid metabolism	MP:0009536	abnormal interstitial cell of Cajal morphology	any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0006510	Chronic obstructive pulmonary disease	MP:0010441	total anomalous pulmonary venous connection	abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the s
HP:0001639	Hypertrophic cardiomyopathy	MP:0005330	cardiomyopathy	diseases of the heart (myocardium); may result from many causes
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment	hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0002823	Abnormality of the femur	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000648	Optic atrophy	MP:0012506	brain atrophy	acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0001678	Atrioventricular block	MP:0010520	sinoatrial block	a partial or complete obstruction of the impulse leaving the sinoatrial node preventing it from activating atrial muscle
HP:0001712	Left ventricular hypertrophy	MP:0010402	ventricular septal defect	abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions
HP:0000280	Coarse facial features	MP:0008018	increased facial tumor incidence	greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period
HP:0004349	Reduced bone mineral density	MP:0013630	increased bone trabecular spacing	increase in the amount of space between trabeculae in cancellous bone
HP:0007957	Corneal opacity	MP:0009859	eye opacity	changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life
HP:0011710	Bundle branch block	MP:0010519	atrioventricular block	a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles
HP:0100585	Telangiectasia of the skin	MP:0011022	abnormal circadian regulation of systemic arterial blood pressure	any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features

Mapped by homologous gene(Total Items:64)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003077	Hyperlipidemia	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000739	Anxiety	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001945	Fever	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100579	Mucosal telangiectasiae	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001014	Angiokeratoma	MP:0012431	increased lymphoma incidence	greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
HP:0001646	Abnormality of the aortic valve	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0011675	Arrhythmia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004306	Abnormality of the endocardium	MP:0011143	thick lung-associated mesenchyme	increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development
HP:0000112	Nephropathy	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000708	Behavioral abnormality	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002326	Transient ischemic attack	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0000091	Abnormality of the renal tubule	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001482	Subcutaneous nodule	MP:0013542	abnormal submandibular gland branching morphogenesis
HP:0001712	Left ventricular hypertrophy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001004	Lymphedema	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002024	Malabsorption	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000524	Conjunctival telangiectasia	MP:0014127	increased thymoma incidence	greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0002097	Emphysema	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0100543	Cognitive impairment	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000873	Diabetes insipidus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000407	Sensorineural hearing impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002093	Respiratory insufficiency	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0100820	Glomerulopathy	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0000518	Cataract	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001131	Corneal dystrophy	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0007957	Corneal opacity	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002017	Nausea and vomiting	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001639	Hypertrophic cardiomyopathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0012378	Fatigue	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0002039	Anorexia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000966	Hypohidrosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002321	Vertigo	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0006510	Chronic obstructive pulmonary disease	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000790	Hematuria	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0011710	Bundle branch block	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0002027	Abdominal pain	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002376	Developmental regression	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000823	Delayed puberty	MP:0020087	increased susceptibility to non-insulin-dependent diabetes	increased likelihood to develop non-insulin-dependent diabetes
HP:0000365	Hearing impairment	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000962	Hyperkeratosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003119	Abnormality of lipid metabolism	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001678	Atrioventricular block	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000179	Thick lower lip vermilion	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000100	Nephrotic syndrome	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000280	Coarse facial features	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001653	Mitral regurgitation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000716	Depression	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100585	Telangiectasia of the skin	MP:0014127	increased thymoma incidence	greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0002823	Abnormality of the femur	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002571	Achalasia	MP:0011882	enlarged duodenum	increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum
HP:0004349	Reduced bone mineral density	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000648	Optic atrophy	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000822	Hypertension	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001681	Angina pectoris	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	65
Disease	fabry disease
Case	(Waiting for update.)