FUCA1D
MCID: FCS002
MIFTS: 62

Fucosidosis (FUCA1D)

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

Aliases & Classifications for Fucosidosis

MalaCards integrated aliases for Fucosidosis:

Name: Fucosidosis 57 12 73 20 43 58 72 36 29 13 54 6 44 15 37 39
Alpha-L-Fucosidase Deficiency 57 20 58 72
Fucosidase Deficiency Disease 43 70
Lysosomal Storage Disease Caused by Defective Alpha-L-Fucosidase with Accumulation of Fucose in the Tissues 20
Alpha Fucosidase Deficiency 12
Alpha-Fucosidase Deficiency 43
a-Fucosidase Deficiency 12
Fucosidase Deficiency 43
Fuca1d 72

Characteristics:

Orphanet epidemiological data:

58
fucosidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
fucosidosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism


Summaries for Fucosidosis

MedlinePlus Genetics : 43 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).In severe cases, symptoms typically appear in infancy, and affected individuals usually live into late childhood. In milder cases, symptoms begin at age 1 or 2, and affected individuals tend to survive into mid-adulthood.In the past, researchers described two types of this condition based on symptoms and age of onset, but current opinion is that the two types are actually a single disorder with signs and symptoms that range in severity.

MalaCards based summary : Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to angiokeratoma and gangliosidosis, and has symptoms including seizures An important gene associated with Fucosidosis is FUCA1 (Alpha-L-Fucosidase 1), and among its related pathways/superpathways are Other glycan degradation and Lysosome. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are failure to thrive and hyperhidrosis

GARD : 20 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that... more...

Related Diseases for Fucosidosis

Diseases related to Fucosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 30.9 NAGA FUCA2 FUCA1
2 gangliosidosis 29.7 GLB1 GALNS CHIT1
3 fabry disease 29.6 NAGA FUCA1 CHIT1
4 gingival hypertrophy 29.4 IDUA GLB1
5 mannosidosis, alpha b, lysosomal 29.1 MAN2B1 IDUA FUCA2 FUCA1
6 krabbe disease 28.8 IDUA GLB1 CHIT1 ARSB
7 mucolipidosis ii alpha/beta 28.8 NAGLU IDUA GALNS FUCA1
8 lysosomal storage disease 28.5 NAGLU NAGA MAN2B1 IDUA GLB1 GALNS
9 gm1 gangliosidosis 28.3 NAGLU IDUA GLB1 GALNS CHIT1 ARSB
10 mucopolysaccharidosis-plus syndrome 27.8 NAGLU MAN2B1 IDUA GLB1 GALNS FUCA2
11 dysostosis 10.4
12 lysosomal storage disease with skeletal involvement 10.4
13 autosomal recessive disease 10.3
14 spasticity 10.2
15 skin hemangioma 10.1 NAGA FUCA2 FUCA1
16 dystonia 10.1
17 laryngotracheitis 10.1 GLB1 FUCA2 FUCA1
18 metachromatic leukodystrophy 10.0
19 leukodystrophy 10.0
20 cerebral lipidosis 10.0 GLB1 CHIT1
21 aspartylglucosaminuria 10.0
22 graft-versus-host disease 10.0
23 alacrima, achalasia, and mental retardation syndrome 10.0
24 gm2 gangliosidosis 10.0
25 gm1-gangliosidosis, type i 10.0 GLB1 CHIT1
26 morquio syndrome 9.9 GLB1 GALNS
27 mucolipidosis iii alpha/beta 9.8 NAGLU FUCA2 FUCA1 ARSB
28 multiple sulfatase deficiency 9.8 GALNS ARSB
29 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
30 otitis media 9.8
31 thrombocytopenic purpura, autoimmune 9.8
32 gaucher disease, type iii 9.8
33 mannosidosis, beta a, lysosomal 9.8
34 peters-plus syndrome 9.8
35 adrenoleukodystrophy 9.8
36 exanthem 9.8
37 ptosis 9.8
38 dental abscess 9.8
39 neurodegeneration with brain iron accumulation 9.8
40 spastic quadriplegia 9.8
41 anhidrosis 9.8
42 male infertility 9.8
43 telangiectasis 9.8
44 quadriplegia 9.8
45 paronychia 9.8
46 diarrhea 9.8
47 hypothyroidism 9.8
48 gaucher's disease 9.8
49 retinal vascular disease 9.8
50 central nervous system disease 9.8

Graphical network of the top 20 diseases related to Fucosidosis:



Diseases related to Fucosidosis

Symptoms & Phenotypes for Fucosidosis

Human phenotypes related to Fucosidosis:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
4 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 anterior beaking of lumbar vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0008430
10 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008155
11 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
12 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0000943
13 generalized hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005595
14 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
15 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
16 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
17 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
18 vascular skin abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0011276
19 spastic tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002510
20 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
21 abnormality of the gallbladder 58 31 frequent (33%) Frequent (79-30%) HP:0005264
22 seizure 31 frequent (33%) HP:0001250
23 hypotonia 31 frequent (33%) HP:0001252
24 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
25 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
26 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
27 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
28 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
29 intellectual disability 31 HP:0001249
30 seizures 58 Frequent (79-30%)
31 spasticity 58 Frequent (79-30%)
32 frontal bossing 31 HP:0002007
33 scoliosis 31 HP:0002650
34 muscular hypotonia 58 Frequent (79-30%)
35 macroglossia 31 HP:0000158
36 splenomegaly 31 HP:0001744
37 hypertelorism 31 HP:0000316
38 recurrent respiratory infections 31 HP:0002205
39 abnormal facial shape 58 Very frequent (99-80%)
40 thick eyebrow 31 HP:0000574
41 short stature 31 HP:0004322
42 flexion contracture 31 HP:0001371
43 abnormality of the cardiovascular system 58 Frequent (79-30%)
44 thick lower lip vermilion 31 HP:0000179
45 hernia 31 HP:0100790
46 dry skin 31 HP:0000958
47 shield chest 31 HP:0000914
48 angiokeratoma 31 HP:0001014
49 oligosacchariduria 31 HP:0010471
50 coxa valga 31 HP:0002673

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
cerebral atrophy
mental retardation
spastic quadriplegia
hypotonia changing to hypertonia

Head And Neck Face:
coarse facial features
prominent forehead

Abdomen Liver:
hepatomegaly

Respiratory:
recurrent respiratory infections

Skeletal:
dysostosis multiplex

Abdomen External Features:
hernia

Neurologic Peripheral Nervous System:
peripheral neuropathy

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

Growth Other:
growth retardation

Head And Neck Mouth:
thick lips
large tongue

Chest External Features:
broad chest

Chest Ribs Sternum Clavicles And Scapulae:
wide clavicles
spatulated ribs

Skeletal Spine:
scoliosis
lumbar hyperlordosis
cervical platyspondyly
absent/hypoplastic coccyx
short odontoid
more
Abdomen Spleen:
splenomegaly

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

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly

Skin Nails Hair Skin:
angiokeratoma
anhidrosis
thin, dry skin

Skeletal Pelvis:
coxa valga
widened, scalloped acetabular roof

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

Head And Neck Ears:
hearing loss

Head And Neck Nose:
broad nose

Head And Neck Head:
normal head circumference

Skeletal Limbs:
joint contracture

Clinical features from OMIM®:

230000 (Updated 05-Apr-2021)

UMLS symptoms related to Fucosidosis:


seizures

MGI Mouse Phenotypes related to Fucosidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ARSB DCX FUCA1 GLB1 HSD17B14 IDUA
2 nervous system MP:0003631 9.61 ARSB DCX FUCA1 GLB1 IDUA LGALS1
3 hearing/vestibular/ear MP:0005377 9.55 ARSB FUCA1 IDUA MAN2B1 NAGLU
4 renal/urinary system MP:0005367 9.17 ARSB FUCA1 GALNS GLB1 IDUA MAN2B1

Drugs & Therapeutics for Fucosidosis

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
7 Methylprednisolone Acetate Phase 2, Phase 3
8
Mesna Approved, Investigational Phase 2 3375-50-6 598
9
tannic acid Approved Phase 2 1401-55-4
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
14
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
15
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
16
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
17
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
18
Tocopherol Approved, Investigational Phase 2 1406-66-2
19
rituximab Approved Phase 2 174722-31-7 10201696
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
Busulfan Approved, Investigational Phase 2 55-98-1 2478
22
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Tocotrienol Investigational Phase 2 6829-55-6
25 Antibiotics, Antitubercular Phase 2
26 Cyclosporins Phase 2
27 Anti-Infective Agents Phase 2
28 Anti-Bacterial Agents Phase 2
29 Antitubercular Agents Phase 2
30 Dermatologic Agents Phase 2
31 Antifungal Agents Phase 2
32 Calcineurin Inhibitors Phase 2
33 Antilymphocyte Serum Phase 2
34 Alpha-lipoic Acid Phase 2
35 Vitamins Phase 2
36 Tocopherols Phase 2
37 Tocotrienols Phase 2
38 N-monoacetylcystine Phase 2
39 Thioctic Acid Phase 2
40 Immunosuppressive Agents Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Immunologic Factors Phase 2
43 Antirheumatic Agents Phase 2
44 Alkylating Agents Phase 2
45 polysaccharide-K

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
3 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
4 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
6 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
7 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
8 Longitudinal Studies of the Glycoproteinoses Unknown status 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:

# Genetic test Affiliating Genes
1 Fucosidosis 29 FUCA1

Anatomical Context for Fucosidosis

MalaCards organs/tissues related to Fucosidosis:

40
Bone Marrow, Bone, Skin, Tongue, Brain, Liver, Eye

Publications for Fucosidosis

Articles related to Fucosidosis:

(show top 50) (show all 329)
# Title Authors PMID Year
1
Spectrum of mutations in fucosidosis. 61 57 6 54
10094192 1999
2
Fucosidosis: genetic and biochemical analysis of eight cases. 57 6 54 61
9039984 1997
3
Fucosidosis revisited: a review of 77 patients. 6 54 57 61
2012122 1991
4
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. 57 6 61
9762612 1998
5
Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. 61 57 6
2642067 1989
6
A note on fucosidosis in a mentally subnormal female. 61 6 57
1214294 1975
7
Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. 57 54 61
8661697 1996
8
Mutations in fucosidosis gene: a review. 54 61 6
8739734 1995
9
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. 6 54 61
8401503 1993
10
Fucosidosis: four new mutations and a new polymorphism. 61 54 6
8504303 1993
11
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient. 61 6 54
1281988 1992
12
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 61 6
26515723 2016
13
Mutation identification of Fabry disease in families with other lysosomal storage disorders. 6 61
23210910 2013
14
Fucosidosis with dystonia. 57 61
8719750 1995
15
A 5' splice site mutation in fucosidosis. 6 61
8097260 1993
16
Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients. 61 6
2803224 1989
17
Heterogeneity of mRNA expression in Italian fucosidosis patients. 57 61
2565868 1989
18
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. 57 61
2903668 1988
19
Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis. 57 61
2903667 1988
20
Intrafamilial variability in fucosidosis. 61 57
3409541 1988
21
Enzyme replacement in nervous tissue after allogeneic bone-marrow transplantation for fucosidosis in dogs. 57 61
2876234 1986
22
Molecular defect in processing alpha-fucosidase in fucosidosis. 57 61
4074382 1985
23
Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy. 61 57
6538300 1984
24
Genetic and demographic characterization of a population with high incidence of fucosidosis. 57 61
7095811 1982
25
Two patients with an unusual form of type II fucosidosis. 57 61
7460371 1980
26
alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. 61 57
17844 1977
27
Fucosidosis in Calabria: founder effect or high gene frequency. 57 61
64894 1977
28
Prenatal diagnosis of fucosidosis. 61 57
991436 1976
29
Human alpha-fucosidase. Single residual enzymatic form in fucosidosis. 61 57
4135 1976
30
Fucosidosis type 2. 57 61
814528 1976
31
Roentgenographic findings in fucosidosis type 2. 61 57
167599 1975
32
Letter: Genetic heterogeneity in fucosidosis. 57 61
4128078 1973
33
Letter: Genetic heterogeneity in fucosidosis. 61 57
4127242 1973
34
Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. 61 57
4634000 1973
35
Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts. 61 57
4624449 1972
36
Deficiency of alpha-L-fucosidase. 57 61
5026163 1972
37
Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. 57 61
5007561 1972
38
Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). 57 61
4247654 1969
39
Fucosidosis. 57 61
4241464 1969
40
Molecular genetics of GM1 beta-galactosidase. 57
812620 1975
41
Mucopolysaccharidosis by absence of alpha-fucosidase. 57
4172303 1968
42
Mutation identification and characterization of a Taiwanese patient with fucosidosis. 54 61
17427030 2007
43
Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. 54 61
16008696 2005
44
Fucosidosis with hypothyroidism: a case report. 54 61
15214749 2004
45
Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights into the catalytic mechanism and the molecular basis for fucosidosis. 54 61
14715651 2004
46
Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases. 61 54
11601762 2001
47
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. 61 54
10761834 2000
48
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 54 61
10571005 1999
49
Mutation analysis of a Japanese patient with fucosidosis. 61 54
10496076 1999
50
Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy. 61 54
8600803 1995

Variations for Fucosidosis

ClinVar genetic disease variations for Fucosidosis:

6 (show top 50) (show all 86)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUCA1 FUCA1, 2-EX DEL Deletion Pathogenic 682 GRCh37:
GRCh38:
2 FUCA1 NM_000147.4(FUCA1):c.969+1G>A SNV Pathogenic 684 rs1570679652 GRCh37: 1:24180849-24180849
GRCh38: 1:23854359-23854359
3 FUCA1 NM_000147.4(FUCA1):c.1160G>A (p.Trp387Ter) SNV Pathogenic 686 rs80358197 GRCh37: 1:24175139-24175139
GRCh38: 1:23848649-23848649
4 FUCA1 NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) SNV Pathogenic 687 rs80358198 GRCh37: 1:24189638-24189638
GRCh38: 1:23863148-23863148
5 FUCA1 FUCA1, 1-BP DEL, EX2 Deletion Pathogenic 688 GRCh37:
GRCh38:
6 FUCA1 FUCA1, 1-BP DEL, EX5 Deletion Pathogenic 689 GRCh37:
GRCh38:
7 FUCA1 FUCA1, 1-BP DEL, EX3 Deletion Pathogenic 690 GRCh37:
GRCh38:
8 FUCA1 NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) SNV Pathogenic 692 rs80358199 GRCh37: 1:24172595-24172595
GRCh38: 1:23846105-23846105
9 FUCA1 NM_000147.4(FUCA1):c.464C>T (p.Ser155Phe) SNV Pathogenic 100720 rs587779398 GRCh37: 1:24192041-24192041
GRCh38: 1:23865551-23865551
10 FUCA1 NM_000147.4(FUCA1):c.790C>T (p.Arg264Ter) SNV Pathogenic 100721 rs587779399 GRCh37: 1:24181029-24181029
GRCh38: 1:23854539-23854539
11 FUCA1 NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) SNV Pathogenic 198046 rs794727774 GRCh37: 1:24175174-24175174
GRCh38: 1:23848684-23848684
12 FUCA1 NC_000001.11:g.(?_23859778)_(23859923_?)del Deletion Pathogenic 656837 GRCh37: 1:24186268-24186413
GRCh38: 1:23859778-23859923
13 FUCA1 NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu) SNV Pathogenic 979023 GRCh37: 1:24175304-24175304
GRCh38: 1:23848814-23848814
14 FUCA1 NM_000147.5(FUCA1):c.237del (p.Trp79fs) Deletion Pathogenic 979024 GRCh37: 1:24194540-24194540
GRCh38: 1:23868050-23868050
15 FUCA1 NM_000147.5(FUCA1):c.170del (p.Lys57fs) Deletion Pathogenic 979025 GRCh37: 1:24194607-24194607
GRCh38: 1:23868117-23868117
16 FUCA1 NM_000147.5(FUCA1):c.662+5G>C SNV Pathogenic 979026 GRCh37: 1:24189619-24189619
GRCh38: 1:23863129-23863129
17 FUCA1 NM_000147.5(FUCA1):c.82del (p.Val28fs) Deletion Pathogenic 873015 GRCh37:
GRCh38:
18 FUCA1 NM_000147.5(FUCA1):c.768+1G>A SNV Pathogenic 984720 GRCh37: 1:24186287-24186287
GRCh38: 1:23859797-23859797
19 FUCA1 NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter) SNV Pathogenic 488519 rs189315801 GRCh37: 1:24189722-24189722
GRCh38: 1:23863232-23863232
20 FUCA1 NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) SNV Pathogenic 681 rs118204450 GRCh37: 1:24172327-24172327
GRCh38: 1:23845837-23845837
21 FUCA1 NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) SNV Pathogenic 683 rs80358195 GRCh37: 1:24175161-24175161
GRCh38: 1:23848671-23848671
22 FUCA1 NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter) SNV Pathogenic 685 rs80358196 GRCh37: 1:24194533-24194533
GRCh38: 1:23868043-23868043
23 FUCA1 NM_000147.4(FUCA1):c.810del (p.Cys271fs) Deletion Pathogenic 633222 rs1557510081 GRCh37: 1:24181009-24181009
GRCh38: 1:23854519-23854519
24 FUCA1 NM_000147.5(FUCA1):c.1A>G (p.Met1Val) SNV Pathogenic 1030623 GRCh37: 1:24194776-24194776
GRCh38: 1:23868286-23868286
25 FUCA1 NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) SNV Likely pathogenic 973571 GRCh37: 1:24186365-24186365
GRCh38: 1:23859875-23859875
26 FUCA1 NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) Deletion Likely pathogenic 800537 rs1570692560 GRCh37: 1:24194617-24194626
GRCh38: 1:23868127-23868136
27 FUCA1 NM_000147.5(FUCA1):c.662_662+8del Deletion Likely pathogenic 988780 GRCh37: 1:24189616-24189624
GRCh38: 1:23863126-23863134
28 FUCA1 NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) SNV Likely pathogenic 981066 GRCh37: 1:24180867-24180867
GRCh38: 1:23854377-23854377
29 FUCA1 NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) SNV Likely pathogenic 488520 rs753232669 GRCh37: 1:24192083-24192083
GRCh38: 1:23865593-23865593
30 FUCA1 NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) SNV Likely pathogenic 984723 GRCh37: 1:24194562-24194562
GRCh38: 1:23868072-23868072
31 DCX NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) SNV Likely pathogenic 522790 rs1556405057 GRCh37: X:110653339-110653339
GRCh38: X:111410111-111410111
32 FUCA1 NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) SNV Conflicting interpretations of pathogenicity 707341 rs370453371 GRCh37: 1:24175180-24175180
GRCh38: 1:23848690-23848690
33 FUCA1 NM_000147.4(FUCA1):c.405G>A (p.Thr135=) SNV Conflicting interpretations of pathogenicity 296891 rs145153173 GRCh37: 1:24192100-24192100
GRCh38: 1:23865610-23865610
34 FUCA1 NM_000147.4(FUCA1):c.936G>A (p.Leu312=) SNV Conflicting interpretations of pathogenicity 296886 rs140932886 GRCh37: 1:24180883-24180883
GRCh38: 1:23854393-23854393
35 FUCA1 NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) SNV Uncertain significance 296888 rs781345107 GRCh37: 1:24189637-24189637
GRCh38: 1:23863147-23863147
36 FUCA1 NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) SNV Uncertain significance 296893 rs886046325 GRCh37: 1:24194610-24194610
GRCh38: 1:23868120-23868120
37 FUCA1 NM_000147.4(FUCA1):c.*527A>G SNV Uncertain significance 296881 rs886046322 GRCh37: 1:24171678-24171678
GRCh38: 1:23845188-23845188
38 FUCA1 NM_000147.4(FUCA1):c.*270T>C SNV Uncertain significance 296884 rs143441916 GRCh37: 1:24171935-24171935
GRCh38: 1:23845445-23845445
39 FUCA1 NM_000147.4(FUCA1):c.825A>T (p.Gly275=) SNV Uncertain significance 296887 rs199675692 GRCh37: 1:24180994-24180994
GRCh38: 1:23854504-23854504
40 FUCA1 NM_000147.4(FUCA1):c.*286C>A SNV Uncertain significance 296883 rs886046324 GRCh37: 1:24171919-24171919
GRCh38: 1:23845429-23845429
41 FUCA1 NM_000147.4(FUCA1):c.*544T>A SNV Uncertain significance 296880 rs886046321 GRCh37: 1:24171661-24171661
GRCh38: 1:23845171-23845171
42 FUCA1 NM_000147.4(FUCA1):c.4C>A (p.Arg2=) SNV Uncertain significance 296896 rs2070955 GRCh37: 1:24194773-24194773
GRCh38: 1:23868283-23868283
43 FUCA1 NM_000147.4(FUCA1):c.30G>C (p.Pro10=) SNV Uncertain significance 296894 rs886046326 GRCh37: 1:24194747-24194747
GRCh38: 1:23868257-23868257
44 FUCA1 NM_000147.4(FUCA1):c.-44G>A SNV Uncertain significance 296897 rs139832548 GRCh37: 1:24194820-24194820
GRCh38: 1:23868330-23868330
45 FUCA1 NM_000147.4(FUCA1):c.*438_*442del Deletion Uncertain significance 296882 rs886046323 GRCh37: 1:24171763-24171767
GRCh38: 1:23845273-23845277
46 FUCA1 NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) SNV Uncertain significance 456362 rs150422575 GRCh37: 1:24172332-24172332
GRCh38: 1:23845842-23845842
47 FUCA1 NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) SNV Uncertain significance 568113 rs770492031 GRCh37: 1:24194568-24194568
GRCh38: 1:23868078-23868078
48 FUCA1 NM_000147.4(FUCA1):c.882G>C (p.Glu294Asp) SNV Uncertain significance 569974 rs1483687600 GRCh37: 1:24180937-24180937
GRCh38: 1:23854447-23854447
49 FUCA1 NM_000147.4(FUCA1):c.943G>A (p.Val315Ile) SNV Uncertain significance 573270 rs746590345 GRCh37: 1:24180876-24180876
GRCh38: 1:23854386-23854386
50 FUCA1 NM_000147.4(FUCA1):c.923G>A (p.Arg308His) SNV Uncertain significance 587455 rs372537257 GRCh37: 1:24180896-24180896
GRCh38: 1:23854406-23854406

UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:

72
# Symbol AA change Variation ID SNP ID
1 FUCA1 p.Gly65Asp VAR_002442 rs135377898
2 FUCA1 p.Ser68Leu VAR_002443
3 FUCA1 p.Leu410Arg VAR_016235 rs80358199

Expression for Fucosidosis

Search GEO for disease gene expression data for Fucosidosis.

Pathways for Fucosidosis

Pathways related to Fucosidosis according to KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Lysosome hsa04142

Pathways related to Fucosidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 NAGLU MAN2B1 IDUA GLB1 CHIT1 ARSB
2
Show member pathways
12.13 NAGLU IDUA GLB1 ARSB
3 11.38 NAGLU NAGA MAN2B1 IDUA GLB1 GALNS
4 10.71 MAN2B1 GLB1 FUCA2 FUCA1
5
Show member pathways
10.65 NAGLU IDUA GLB1 GALNS ARSB

GO Terms for Fucosidosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 NAGLU NAGA MAN2B1 LGALS1 IDUA GLB1
2 extracellular region GO:0005576 9.92 MAN2B1 LGALS1 GLB1 GALNS FUCA2 FUCA1
3 azurophil granule lumen GO:0035578 9.63 MAN2B1 GLB1 GALNS FUCA2 FUCA1 ARSB
4 lysosomal lumen GO:0043202 9.5 NAGLU MAN2B1 IDUA GLB1 GALNS FUCA1
5 lysosome GO:0005764 9.32 NAGLU NAGA MAN2B1 IDUA GLB1 GALNS

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.87 MAN2B1 GLB1 GALNS FUCA2 FUCA1 CHIT1
2 carbohydrate metabolic process GO:0005975 9.5 NAGA MAN2B1 IDUA GLB1 FUCA2 FUCA1
3 chondroitin sulfate catabolic process GO:0030207 9.46 IDUA ARSB
4 glycosaminoglycan catabolic process GO:0006027 9.46 NAGLU IDUA GLB1 FUCA1
5 keratan sulfate catabolic process GO:0042340 9.43 GLB1 GALNS
6 glycoside catabolic process GO:0016139 9.43 NAGA FUCA2 FUCA1
7 fucose metabolic process GO:0006004 9.4 FUCA2 FUCA1
8 glycolipid catabolic process GO:0019377 9.37 NAGA FUCA1
9 metabolic process GO:0008152 9.23 NAGLU NAGA MAN2B1 IDUA GLB1 FUCA2

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 NAGLU NAGA MAN2B1 IDUA GLB1 GALNS
2 catalytic activity GO:0003824 9.73 NAGA MAN2B1 GALNS ARSB
3 sulfuric ester hydrolase activity GO:0008484 9.4 GALNS ARSB
4 arylsulfatase activity GO:0004065 9.37 GALNS ARSB
5 alpha-L-fucosidase activity GO:0004560 9.32 FUCA2 FUCA1
6 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 GALNS ARSB
7 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 NAGA IDUA GLB1 CHIT1
8 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 NAGLU NAGA MAN2B1 IDUA GLB1 FUCA2

Sources for Fucosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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