MCID: FCS002
MIFTS: 59

Fucosidosis

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Eye diseases, Mental diseases

Aliases & Classifications for Fucosidosis

MalaCards integrated aliases for Fucosidosis:

Name: Fucosidosis 54 38 12 50 24 25 56 71 29 13 52 42 14
Alpha-L-Fucosidase Deficiency 50 24 56 71
Fucosidase Deficiency Disease 25 69
Lysosomal Storage Disease Caused by Defective Alpha-L-Fucosidase with Accumulation of Fucose in the Tissues 50
Alpha Fucosidase Deficiency 12
Alpha-Fucosidase Deficiency 25
a-Fucosidase Deficiency 12
Fucosidase Deficiency 25
Fuca1d 71

Characteristics:

Orphanet epidemiological data:

56
fucosidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients from italy and southwestern united states
two types - severe infantile form (type i) and milder form (type ii)


HPO:

32
fucosidosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fucosidosis

NIH Rare Diseases : 50 fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. people with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. in severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. fucosidosis is caused by mutations in the fuca1 gene. this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. the only currently available treatment is bone marrow transplant, the results of which have been variable and need further study. last updated: 11/19/2013

MalaCards based summary : Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to fucosidosis type 1 and bone angioendothelial sarcoma, and has symptoms including failure to thrive, intellectual disability, severe and hepatomegaly. An important gene associated with Fucosidosis is FUCA1 (Fucosidase, Alpha-L- 1, Tissue), and among its related pathways/superpathways are Lysosome and Globo Sphingolipid Metabolism. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin.

UniProtKB/Swiss-Prot : 71 Fucosidosis: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.

Genetics Home Reference : 25 Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly).

OMIM : 54
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976). (230000)

Wikipedia : 72 Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that... more...

Related Diseases for Fucosidosis

Graphical network of the top 20 diseases related to Fucosidosis:



Diseases related to Fucosidosis

Symptoms & Phenotypes for Fucosidosis

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Nose:
broad nose

Respiratory:
recurrent respiratory infections

Growth- Other:
growth retardation

Abdomen- Spleen:
splenomegaly

Head And Neck- Face:
coarse facial features
prominent forehead

Head And Neck- Eyes:
hypertelorism
heavy eyebrows
tortuosity of conjunctival vessels

Chest- External Features:
broad chest

Abdomen- External Features:
hernia

Skeletal- Skull:
progressive thickening of diploic spaces
absent/hypoplastic paranasal sinuses

Skeletal- Limbs:
joint contracture

Neurologic- Peripheral Nervous System:
peripheral neuropathy

Skeletal- Spine:
scoliosis
lumbar hyperlordosis
short odontoid
cervical platyspondyly
anterior beaking of thoracic and lumbar vertebrae
more
Neurologic- Central Nervous System:
mental retardation
cerebral atrophy
seizures
hypotonia changing to hypertonia
spastic quadriplegia

Head And Neck- Mouth:
large tongue
thick lips

Abdomen- Liver:
hepatomegaly

Head And Neck- Head:
normal head circumference

Head And Neck- Ears:
hearing loss

Cardiovascular- Heart:
cardiomegaly

Chest- Ribs Sternum Clavicles And Scapulae:
wide clavicles
spatulated ribs

Skeletal:
dysostosis multiplex

Skeletal- Pelvis:
widened, scalloped acetabular roof
coxa valga

Skin Nails & Hair- Skin:
angiokeratoma
thin, dry skin
anhidrosis

Laboratory- Abnormalities:
elevated sweat chloride
vacuolated lymphocytes
increased urine oligosaccharides
alpha-l-fucosidase deficiency


Clinical features from OMIM:

230000

Human phenotypes related to Fucosidosis:

56 32 (show top 50) (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
5 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 prominent forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0011220
7 cardiomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001640
8 dysostosis multiplex 56 32 hallmark (90%) Very frequent (99-80%) HP:0000943
9 kyphosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002808
10 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
12 spastic tetraplegia 56 32 frequent (33%) Frequent (79-30%) HP:0002510
13 hypothyroidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000821
14 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
15 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
16 acrocyanosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001063
17 decreased muscle mass 56 32 frequent (33%) Frequent (79-30%) HP:0003199
18 corneal opacity 56 32 frequent (33%) Frequent (79-30%) HP:0007957
19 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
20 lipoatrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100578
21 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
22 anterior beaking of lumbar vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0008430
23 vascular skin abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0011276
24 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0008155
25 abnormality of the nail 56 32 occasional (7.5%) Occasional (29-5%) HP:0001597
26 abnormality of the gallbladder 56 32 frequent (33%) Frequent (79-30%) HP:0005264
27 generalized hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005595
28 short stature 32 HP:0004322
29 scoliosis 32 HP:0002650
30 macroglossia 32 HP:0000158
31 recurrent respiratory infections 32 HP:0002205
32 spasticity 56 Frequent (79-30%)
33 cerebral atrophy 32 HP:0002059
34 splenomegaly 32 HP:0001744
35 hypertelorism 32 HP:0000316
36 tortuosity of conjunctival vessels 32 HP:0000503
37 hernia 32 HP:0100790
38 absent/hypoplastic paranasal sinuses 32 HP:0005453
39 lumbar hyperlordosis 32 HP:0002938
40 cervical platyspondyly 32 HP:0004558
41 absent/hypoplastic coccyx 32 HP:0008436
42 coxa valga 32 HP:0002673
43 angiokeratoma 32 HP:0001014
44 anhidrosis 32 HP:0000970
45 elevated sweat chloride 32 HP:0012236
46 vacuolated lymphocytes 32 HP:0001922
47 frontal bossing 32 HP:0002007
48 intellectual disability 32 HP:0001249
49 dry skin 32 HP:0000958
50 barrel-shaped chest 32 HP:0001552

UMLS symptoms related to Fucosidosis:


seizures

Drugs & Therapeutics for Fucosidosis

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

(show all 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5 Prednisolone acetate Phase 2, Phase 3
6 Alkylating Agents Phase 2, Phase 3
7 Methylprednisolone acetate Phase 2, Phase 3
8 Methylprednisolone Hemisuccinate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Prednisolone hemisuccinate Phase 2, Phase 3
11 Prednisolone phosphate Phase 2, Phase 3
12 Antilymphocyte Serum Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
rituximab Approved Phase 2 174722-31-7 10201696
17
alemtuzumab Approved, Investigational Phase 2 216503-57-0
18 Thiotepa Approved Phase 2 52-24-4 5453
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
22
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
23
Mesna Approved Phase 2 3375-50-6 598
24
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
25 Tocopherol Approved, Nutraceutical Phase 2
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
27 tannic acid Approved, Nutraceutical Phase 2
28 N-monoacetylcystine Phase 2
29 Thioctic Acid Phase 2
30 Tocopherols Phase 2
31 Tocotrienols Phase 2
32 Vitamins Phase 2
33 Antimetabolites Phase 2
34 Antimetabolites, Antineoplastic Phase 2
35 Cyclosporins Phase 2
36 Dermatologic Agents Phase 2
37 Anti-Bacterial Agents Phase 2
38 Anti-Infective Agents Phase 2
39 Antifungal Agents Phase 2
40 Antibiotics, Antitubercular Phase 2
41 Calcineurin Inhibitors Phase 2
42 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
43 Alpha-lipoic Acid Nutraceutical Phase 2
44 Krestin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
5 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
6 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
7 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
8 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
9 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422

Search NIH Clinical Center for Fucosidosis

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Fucosidosis cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: fucosidosis

Genetic Tests for Fucosidosis

Genetic tests related to Fucosidosis:

id Genetic test Affiliating Genes
1 Fucosidosis 29 24 FUCA1

Anatomical Context for Fucosidosis

MalaCards organs/tissues related to Fucosidosis:

39
Bone, Brain, Skin, Bone Marrow, Tongue, Liver, Testes

Publications for Fucosidosis

Articles related to Fucosidosis:

(show top 50) (show all 188)
id Title Authors Year
1
Brain abnormalities in fucosidosis: transplantation or supportive therapy? ( 28238202 )
2017
2
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. ( 27491075 )
2016
3
Associations between neurologic dysfunction and lesions in canine fucosidosis. ( 26711085 )
2016
4
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
5
Novel mutations in the FUCA1 gene that cause fucosidosis. ( 27706744 )
2016
6
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. ( 26713028 )
2015
7
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
8
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis. ( 26537923 )
2015
9
Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. ( 26622931 )
2015
10
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. ( 24636010 )
2014
11
Siblings with fucosidosis. ( 25250075 )
2014
12
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. ( 25818965 )
2014
13
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
14
Hypomyelination With T2-hypointense Globi Pallidi in a Child With Fucosidosis. ( 23666038 )
2013
15
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
16
Teaching NeuroImages: Distinct neuroimaging features of fucosidosis. ( 22291069 )
2012
17
Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain. ( 21056668 )
2011
18
Fucosidosis in a domestic shorthair cat. ( 21115380 )
2011
19
Increased cerebellar volume in the early stage of fucosidosis: a case control study. ( 21384124 )
2011
20
Canine fucosidosis: a neuroprogressive disorder. ( 21282938 )
2011
21
Myelin genes are downregulated in canine fucosidosis. ( 21683140 )
2011
22
Treatment of canine fucosidosis by intracisternal enzyme infusion. ( 21575633 )
2011
23
Characteristic MR spectroscopy in fucosidosis: in vitro investigation. ( 20336288 )
2010
24
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. ( 18504684 )
2008
25
Phenotypic spectrum of fucosidosis in Tunisia. ( 18651239 )
2008
26
Mutation identification and characterization of a Taiwanese patient with fucosidosis. ( 17427030 )
2007
27
Anesthesia for fucosidosis. ( 17767638 )
2007
28
Fucosidosis: a therapeutic challenge. ( 17845186 )
2007
29
Fucosidosis: MRI and MRS findings. ( 17704911 )
2007
30
Fucosidosis and anesthesia. ( 17768480 )
2007
31
Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. ( 16008696 )
2005
32
Diagnosis of fucosidosis through a skin rash. ( 16158002 )
2005
33
Fucosidosis with hypothyroidism: a case report. ( 15214749 )
2004
34
Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights into the catalytic mechanism and the molecular basis for fucosidosis. ( 14715651 )
2004
35
A novel FUCA1 mutation causing fucosidosis in a Chinese boy. ( 12408193 )
2002
36
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. ( 11360116 )
2001
37
MR brain imaging of fucosidosis type I. ( 11290499 )
2001
38
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. ( 10761834 )
2000
39
Genomic screening for fucosidosis in English Springer Spaniels. ( 10376901 )
1999
40
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ( 10571005 )
1999
41
Mutation analysis of a Japanese patient with fucosidosis. ( 10496076 )
1999
42
Fucosidosis: immunological studies and chronological neuroradiological changes. ( 10102160 )
1999
43
Spectrum of mutations in fucosidosis. ( 10094192 )
1999
44
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. ( 10226749 )
1999
45
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. ( 9762612 )
1998
46
A PCR-based diagnostic test for fucosidosis in English springer spaniels. ( 9564263 )
1998
47
Fucosidosis: genetic and biochemical analysis of eight cases. ( 9039984 )
1997
48
Cutaneous manifestations of fucosidosis. ( 9155966 )
1997
49
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. ( 9267851 )
1997
50
The molecular defect underlying canine fucosidosis. ( 8730282 )
1996

Variations for Fucosidosis

UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:

71
id Symbol AA change Variation ID SNP ID
1 FUCA1 p.Gly65Asp VAR_002442
2 FUCA1 p.Ser68Leu VAR_002443
3 FUCA1 p.Leu410Arg VAR_016235 rs80358199

ClinVar genetic disease variations for Fucosidosis:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 FUCA1 NM_000147.4(FUCA1): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs80358196 GRCh38 Chromosome 1, 23868043: 23868043
2 FUCA1 NM_000147.4(FUCA1): c.1160G> A (p.Trp387Ter) single nucleotide variant Pathogenic rs80358197 GRCh37 Chromosome 1, 24175139: 24175139
3 FUCA1 NM_000147.4(FUCA1): c.1279C> T (p.Gln427Ter) single nucleotide variant Pathogenic rs118204450 GRCh37 Chromosome 1, 24172327: 24172327
4 FUCA1 FUCA1, 2-EX DEL deletion Pathogenic
5 FUCA1 NM_000147.4(FUCA1): c.1138G> T (p.Glu380Ter) single nucleotide variant Pathogenic rs80358195 GRCh37 Chromosome 1, 24175161: 24175161
6 FUCA1 FUCA1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
7 FUCA1 NM_000147.4(FUCA1): c.648C> A (p.Tyr216Ter) single nucleotide variant Pathogenic rs80358198 GRCh37 Chromosome 1, 24189638: 24189638
8 FUCA1 FUCA1, 1-BP DEL, EX2 deletion Pathogenic
9 FUCA1 FUCA1, 1-BP DEL, EX5 deletion Pathogenic
10 FUCA1 FUCA1, 1-BP DEL, EX3 deletion Pathogenic
11 FUCA1 NM_000147.4(FUCA1): c.1229T> G (p.Leu410Arg) single nucleotide variant Pathogenic rs80358199 GRCh37 Chromosome 1, 24172595: 24172595
12 FUCA1 NM_000147.4(FUCA1): c.464C> T (p.Ser155Phe) single nucleotide variant Pathogenic rs587779398 GRCh37 Chromosome 1, 24192041: 24192041
13 FUCA1 NM_000147.4(FUCA1): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs587779399 GRCh37 Chromosome 1, 24181029: 24181029
14 FUCA1 NM_000147.4(FUCA1): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs794727774 GRCh37 Chromosome 1, 24175174: 24175174

Expression for Fucosidosis

Search GEO for disease gene expression data for Fucosidosis.

Pathways for Fucosidosis

Pathways related to Fucosidosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.19 AGA CTSA FUCA1 GAA HEXA NAGA
2
Show member pathways
10.72 HEXA NAGA
3 10.39 AGA FUCA1 HEXA

GO Terms for Fucosidosis

Cellular components related to Fucosidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 AGA CTSA FUCA1 GAA HEXA NAGA
2 azurophil granule lumen GO:0035578 9.33 AGA CTSA FUCA1
3 lysosomal lumen GO:0043202 9.26 CTSA FUCA1 GAA HEXA
4 lysosome GO:0005764 9.1 AGA CTSA FUCA1 GAA HEXA NAGA

Biological processes related to Fucosidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.62 FUCA1 GAA HEXA NAGA
2 neutrophil degranulation GO:0043312 9.56 AGA CTSA FUCA1 GAA
3 glycosphingolipid metabolic process GO:0006687 9.37 CTSA HEXA
4 carbohydrate metabolic process GO:0005975 9.26 FUCA1 GAA HEXA NAGA
5 glycoside catabolic process GO:0016139 9.16 FUCA1 NAGA
6 glycolipid catabolic process GO:0019377 8.32 NAGA

Molecular functions related to Fucosidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.43 AGA CTSA FUCA1 GAA HEXA NAGA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GAA NAGA
3 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 FUCA1 GAA HEXA NAGA

Sources for Fucosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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