MCID: FCS002
MIFTS: 60

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 57 38 12 76 53 25 59 75 37 29 13 55 6 44 15 40
Alpha-L-Fucosidase Deficiency 57 53 59 75
Fucosidase Deficiency Disease 25 73
Lysosomal Storage Disease Caused by Defective Alpha-L-Fucosidase with Accumulation of Fucose in the Tissues 53
Alpha Fucosidase Deficiency 12
Alpha-Fucosidase Deficiency 25
a-Fucosidase Deficiency 12
Fucosidase Deficiency 25
Fuca1d 75

Characteristics:

Orphanet epidemiological data:

59
fucosidosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Childhood,Infancy;

OMIM:

57
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 : 53 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.

MalaCards based summary : Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to metachromatic leukodystrophy and angiokeratoma, 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 Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are hypothyroidism and hyperhidrosis

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)

UniProtKB/Swiss-Prot : 75 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).

Wikipedia : 76 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:

57
Head And Neck Eyes:
hypertelorism
tortuosity of conjunctival vessels
heavy eyebrows

Skeletal Spine:
scoliosis
lumbar hyperlordosis
short odontoid
cervical platyspondyly
anterior beaking of thoracic and lumbar vertebrae
more
AbdomenSpleen:
splenomegaly

Abdomen Liver:
hepatomegaly

Skeletal:
dysostosis multiplex

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skeletal Pelvis:
coxa valga
widened, scalloped acetabular roof

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

Head And Neck Ears:
hearing loss

Head And Neck Nose:
broad nose

Head And Neck Head:
normal head circumference

Chest Ribs Sternum Clavicles And Scapulae:
wide clavicles
spatulated ribs

Neurologic Central Nervous System:
seizures
cerebral atrophy
mental retardation
spastic quadriplegia
hypotonia changing to hypertonia

Head And Neck Face:
coarse facial features
prominent forehead

Respiratory:
recurrent respiratory infections

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly

Abdomen External Features:
hernia

Skin Nails Hair Skin:
angiokeratoma
anhidrosis
thin, dry skin

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

Head And Neck Mouth:
thick lips
large tongue

Growth Other:
growth retardation

Chest External Features:
broad chest

Skeletal Limbs:
joint contracture


Clinical features from OMIM:

230000

Human phenotypes related to Fucosidosis:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
7 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
8 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
9 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
12 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
13 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
14 anterior beaking of lumbar vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008430
15 vascular skin abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0011276
16 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
17 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
18 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
19 dysostosis multiplex 59 32 hallmark (90%) Very frequent (99-80%) HP:0000943
20 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
21 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
22 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
23 spastic tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002510
24 abnormality of the gallbladder 59 32 frequent (33%) Frequent (79-30%) HP:0005264
25 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
26 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
27 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
28 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
29 hypertelorism 32 HP:0000316
30 frontal bossing 32 HP:0002007
31 intellectual disability 32 HP:0001249
32 spasticity 59 Frequent (79-30%)
33 scoliosis 32 HP:0002650
34 macroglossia 32 HP:0000158
35 splenomegaly 32 HP:0001744
36 recurrent respiratory infections 32 HP:0002205
37 abnormal facial shape 59 Very frequent (99-80%)
38 thick eyebrow 32 HP:0000574
39 short stature 32 HP:0004322
40 flexion contracture 32 HP:0001371
41 abnormality of the cardiovascular system 59 Frequent (79-30%)
42 thick lower lip vermilion 32 HP:0000179
43 hernia 32 HP:0100790
44 coxa valga 32 HP:0002673
45 dry skin 32 HP:0000958
46 shield chest 32 HP:0000914
47 angiokeratoma 32 HP:0001014
48 oligosacchariduria 32 HP:0010471
49 wide nose 32 HP:0000445
50 anhidrosis 32 HP:0000970

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 9.1 AGA CTSA DCX GAA HEXA NAGLU

Drugs & Therapeutics for Fucosidosis

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Alkylating Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antineoplastic Agents, Alkylating Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Methylprednisolone acetate Phase 2, Phase 3
11 Methylprednisolone Hemisuccinate Phase 2, Phase 3
12 Prednisolone acetate Phase 2, Phase 3
13 Prednisolone hemisuccinate Phase 2, Phase 3
14 Prednisolone phosphate Phase 2, Phase 3
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Mesna Approved, Investigational Phase 2 3375-50-6 598
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
22
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
23
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
26 tannic acid Approved, Nutraceutical Phase 2
27
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
28
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
29 Anti-Bacterial Agents Phase 2
30 Antibiotics, Antitubercular Phase 2
31 Antifungal Agents Phase 2
32 Anti-Infective Agents Phase 2
33 Antitubercular Agents Phase 2
34 Calcineurin Inhibitors Phase 2
35 Cyclosporins Phase 2
36 Dermatologic Agents Phase 2
37 Antimetabolites Phase 2
38 Antimetabolites, Antineoplastic Phase 2
39 N-monoacetylcystine Phase 2
40 Thioctic Acid Phase 2
41 Tocopherols Phase 2
42 Tocotrienols Phase 2
43 Vitamins Phase 2
44 Alpha-lipoic Acid Nutraceutical Phase 2
45 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
46 Krestin

Interventional clinical trials:


# 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 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 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)
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 Active, not 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:

# Genetic test Affiliating Genes
1 Fucosidosis 29 FUCA1

Anatomical Context for Fucosidosis

MalaCards organs/tissues related to Fucosidosis:

41
Bone, Brain, Skin, Bone Marrow, Tongue, Liver, Testes

Publications for Fucosidosis

Articles related to Fucosidosis:

(show top 50) (show all 194)
# Title Authors Year
1
Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice. ( 29706874 )
2018
2
A novel homozygous frameshift mutation in the <i>FUCA1</i> gene causes both severe and mild fucosidosis. ( 29588375 )
2018
3
Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions. ( 29518279 )
2018
4
Brain abnormalities in fucosidosis: transplantation or supportive therapy? ( 28238202 )
2017
5
Recalcitrant chronic rhinosinusitis in the setting of fucosidosis, a rare lysosomal storage disorder. ( 29224764 )
2017
6
Ocular findings in a patient with fucosidosis. ( 29503934 )
2016
7
Associations between neurologic dysfunction and lesions in canine fucosidosis. ( 26711085 )
2016
8
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. ( 27491075 )
2016
9
Novel mutations in the FUCA1 gene that cause fucosidosis. ( 27706744 )
2016
10
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
11
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis. ( 26537923 )
2015
12
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. ( 26713028 )
2015
13
Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. ( 26622931 )
2015
14
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
15
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. ( 25818965 )
2014
16
Siblings with fucosidosis. ( 25250075 )
2014
17
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
18
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. ( 24636010 )
2014
19
Hypomyelination With T2-hypointense Globi Pallidi in a Child With Fucosidosis. ( 23666038 )
2013
20
Teaching NeuroImages: Distinct neuroimaging features of fucosidosis. ( 22291069 )
2012
21
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
22
Treatment of canine fucosidosis by intracisternal enzyme infusion. ( 21575633 )
2011
23
Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain. ( 21056668 )
2011
24
Canine fucosidosis: a neuroprogressive disorder. ( 21282938 )
2011
25
Myelin genes are downregulated in canine fucosidosis. ( 21683140 )
2011
26
Increased cerebellar volume in the early stage of fucosidosis: a case control study. ( 21384124 )
2011
27
Fucosidosis in a domestic shorthair cat. ( 21115380 )
2011
28
Characteristic MR spectroscopy in fucosidosis: in vitro investigation. ( 20336288 )
2010
29
Phenotypic spectrum of fucosidosis in Tunisia. ( 18651239 )
2008
30
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. ( 18504684 )
2008
31
Mutation identification and characterization of a Taiwanese patient with fucosidosis. ( 17427030 )
2007
32
Anesthesia for fucosidosis. ( 17767638 )
2007
33
Fucosidosis and anesthesia. ( 17768480 )
2007
34
Fucosidosis: MRI and MRS findings. ( 17704911 )
2007
35
Fucosidosis: a therapeutic challenge. ( 17845186 )
2007
36
Diagnosis of fucosidosis through a skin rash. ( 16158002 )
2005
37
Fucosidosis with angiokeratoma. Immunohistochemical &amp;amp; electronmicroscopic study of a new case and literature review. ( 16008696 )
2005
38
Crystal structure of Thermotoga maritima alpha-L-fucosidase. Insights into the catalytic mechanism and the molecular basis for fucosidosis. ( 14715651 )
2004
39
Fucosidosis with hypothyroidism: a case report. ( 15214749 )
2004
40
A novel FUCA1 mutation causing fucosidosis in a Chinese boy. ( 12408193 )
2002
41
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. ( 11360116 )
2001
42
MR brain imaging of fucosidosis type I. ( 11290499 )
2001
43
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. ( 10761834 )
2000
44
Fucosidosis: immunological studies and chronological neuroradiological changes. ( 10102160 )
1999
45
Mutation analysis of a Japanese patient with fucosidosis. ( 10496076 )
1999
46
Spectrum of mutations in fucosidosis. ( 10094192 )
1999
47
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
48
Genomic screening for fucosidosis in English Springer Spaniels. ( 10376901 )
1999
49
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ( 10571005 )
1999
50
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. ( 9762612 )
1998

Variations for Fucosidosis

UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:

75
# 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 top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 FUCA1 NM_000147.4(FUCA1): c.1160G> A (p.Trp387Ter) single nucleotide variant Pathogenic rs80358197 GRCh38 Chromosome 1, 23848649: 23848649
2 FUCA1 NM_000147.4(FUCA1): c.648C> A (p.Tyr216Ter) single nucleotide variant Pathogenic rs80358198 GRCh37 Chromosome 1, 24189638: 24189638
3 FUCA1 NM_000147.4(FUCA1): c.648C> A (p.Tyr216Ter) single nucleotide variant Pathogenic rs80358198 GRCh38 Chromosome 1, 23863148: 23863148
4 FUCA1 NM_000147.4(FUCA1): c.1279C> T (p.Gln427Ter) single nucleotide variant Pathogenic rs118204450 GRCh37 Chromosome 1, 24172327: 24172327
5 FUCA1 NM_000147.4(FUCA1): c.1279C> T (p.Gln427Ter) single nucleotide variant Pathogenic rs118204450 GRCh38 Chromosome 1, 23845837: 23845837
6 FUCA1 FUCA1, 2-EX DEL deletion Pathogenic
7 FUCA1 NM_000147.4(FUCA1): c.1138G> T (p.Glu380Ter) single nucleotide variant Pathogenic rs80358195 GRCh37 Chromosome 1, 24175161: 24175161
8 FUCA1 NM_000147.4(FUCA1): c.1138G> T (p.Glu380Ter) single nucleotide variant Pathogenic rs80358195 GRCh38 Chromosome 1, 23848671: 23848671
9 FUCA1 FUCA1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
10 FUCA1 NM_000147.4(FUCA1): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs80358196 GRCh37 Chromosome 1, 24194533: 24194533
11 FUCA1 NM_000147.4(FUCA1): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs80358196 GRCh38 Chromosome 1, 23868043: 23868043
12 FUCA1 NM_000147.4(FUCA1): c.1160G> A (p.Trp387Ter) single nucleotide variant Pathogenic rs80358197 GRCh37 Chromosome 1, 24175139: 24175139
13 FUCA1 FUCA1, 1-BP DEL, EX2 deletion Pathogenic
14 FUCA1 FUCA1, 1-BP DEL, EX5 deletion Pathogenic
15 FUCA1 FUCA1, 1-BP DEL, EX3 deletion Pathogenic
16 FUCA1 NM_000147.4(FUCA1): c.1229T> G (p.Leu410Arg) single nucleotide variant Pathogenic rs80358199 GRCh37 Chromosome 1, 24172595: 24172595
17 FUCA1 NM_000147.4(FUCA1): c.1229T> G (p.Leu410Arg) single nucleotide variant Pathogenic rs80358199 GRCh38 Chromosome 1, 23846105: 23846105
18 FUCA1 NM_000147.4(FUCA1): c.464C> T (p.Ser155Phe) single nucleotide variant Pathogenic rs587779398 GRCh37 Chromosome 1, 24192041: 24192041
19 FUCA1 NM_000147.4(FUCA1): c.464C> T (p.Ser155Phe) single nucleotide variant Pathogenic rs587779398 GRCh38 Chromosome 1, 23865551: 23865551
20 FUCA1 NM_000147.4(FUCA1): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs587779399 GRCh37 Chromosome 1, 24181029: 24181029
21 FUCA1 NM_000147.4(FUCA1): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs587779399 GRCh38 Chromosome 1, 23854539: 23854539
22 FUCA1 NM_000147.4(FUCA1): c.-12T> C single nucleotide variant Benign/Likely benign rs2070954 GRCh37 Chromosome 1, 24194788: 24194788
23 FUCA1 NM_000147.4(FUCA1): c.-12T> C single nucleotide variant Benign/Likely benign rs2070954 GRCh38 Chromosome 1, 23868298: 23868298
24 FUCA1 NM_000147.4(FUCA1): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs2070955 GRCh37 Chromosome 1, 24194773: 24194773
25 FUCA1 NM_000147.4(FUCA1): c.4C> T (p.Arg2Trp) single nucleotide variant Benign rs2070955 GRCh38 Chromosome 1, 23868283: 23868283
26 FUCA1 NM_000147.4(FUCA1): c.29C> G (p.Pro10Arg) single nucleotide variant Benign rs2070956 GRCh37 Chromosome 1, 24194748: 24194748
27 FUCA1 NM_000147.4(FUCA1): c.29C> G (p.Pro10Arg) single nucleotide variant Benign rs2070956 GRCh38 Chromosome 1, 23868258: 23868258
28 FUCA1 NM_000147.4(FUCA1): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs794727774 GRCh38 Chromosome 1, 23848684: 23848684
29 FUCA1 NM_000147.4(FUCA1): c.1125G> A (p.Trp375Ter) single nucleotide variant Pathogenic rs794727774 GRCh37 Chromosome 1, 24175174: 24175174
30 FUCA1 NM_000147.4(FUCA1): c.402G> C (p.Leu134Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs143691289 GRCh37 Chromosome 1, 24192103: 24192103
31 FUCA1 NM_000147.4(FUCA1): c.402G> C (p.Leu134Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs143691289 GRCh38 Chromosome 1, 23865613: 23865613
32 FUCA1 NM_000147.4(FUCA1): c.*544T> A single nucleotide variant Uncertain significance rs886046321 GRCh38 Chromosome 1, 23845171: 23845171
33 FUCA1 NM_000147.4(FUCA1): c.*544T> A single nucleotide variant Uncertain significance rs886046321 GRCh37 Chromosome 1, 24171661: 24171661
34 FUCA1 NM_000147.4(FUCA1): c.*527A> G single nucleotide variant Uncertain significance rs886046322 GRCh37 Chromosome 1, 24171678: 24171678
35 FUCA1 NM_000147.4(FUCA1): c.*527A> G single nucleotide variant Uncertain significance rs886046322 GRCh38 Chromosome 1, 23845188: 23845188
36 FUCA1 NM_000147.4(FUCA1): c.*438_*442delGCAGG deletion Uncertain significance rs886046323 GRCh37 Chromosome 1, 24171763: 24171767
37 FUCA1 NM_000147.4(FUCA1): c.*438_*442delGCAGG deletion Uncertain significance rs886046323 GRCh38 Chromosome 1, 23845273: 23845277
38 FUCA1 NM_000147.4(FUCA1): c.1148C> T (p.Thr383Ile) single nucleotide variant Benign/Likely benign rs114490852 GRCh37 Chromosome 1, 24175151: 24175151
39 FUCA1 NM_000147.4(FUCA1): c.1148C> T (p.Thr383Ile) single nucleotide variant Benign/Likely benign rs114490852 GRCh38 Chromosome 1, 23848661: 23848661
40 FUCA1 NM_000147.4(FUCA1): c.825A> T (p.Gly275=) single nucleotide variant Uncertain significance rs199675692 GRCh37 Chromosome 1, 24180994: 24180994
41 FUCA1 NM_000147.4(FUCA1): c.825A> T (p.Gly275=) single nucleotide variant Uncertain significance rs199675692 GRCh38 Chromosome 1, 23854504: 23854504
42 FUCA1 NM_000147.4(FUCA1): c.437C> T (p.Pro146Leu) single nucleotide variant Likely benign rs2228424 GRCh37 Chromosome 1, 24192068: 24192068
43 FUCA1 NM_000147.4(FUCA1): c.437C> T (p.Pro146Leu) single nucleotide variant Likely benign rs2228424 GRCh38 Chromosome 1, 23865578: 23865578
44 FUCA1 NM_000147.4(FUCA1): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs61996282 GRCh37 Chromosome 1, 24194770: 24194770
45 FUCA1 NM_000147.4(FUCA1): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs61996282 GRCh38 Chromosome 1, 23868280: 23868280
46 FUCA1 NM_000147.4(FUCA1): c.4C> A (p.Arg2=) single nucleotide variant Uncertain significance rs2070955 GRCh37 Chromosome 1, 24194773: 24194773
47 FUCA1 NM_000147.4(FUCA1): c.4C> A (p.Arg2=) single nucleotide variant Uncertain significance rs2070955 GRCh38 Chromosome 1, 23868283: 23868283
48 FUCA1 NM_000147.4(FUCA1): c.-44G> A single nucleotide variant Uncertain significance rs139832548 GRCh37 Chromosome 1, 24194820: 24194820
49 FUCA1 NM_000147.4(FUCA1): c.-44G> A single nucleotide variant Uncertain significance rs139832548 GRCh38 Chromosome 1, 23868330: 23868330
50 FUCA1 NM_000147.4(FUCA1): c.405G> A (p.Thr135=) single nucleotide variant Uncertain significance rs145153173 GRCh37 Chromosome 1, 24192100: 24192100

Expression for Fucosidosis

Search GEO for disease gene expression data for Fucosidosis.

Pathways for Fucosidosis

Pathways related to Fucosidosis according to KEGG:

37
# 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 11.26 AGA CTSA FUCA1 GAA HEXA NAGA
2
Show member pathways
10.82 HEXA NAGA
3
Show member pathways
10.46 HEXA NAGLU
4 10.39 AGA FUCA1 HEXA

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 9.8 AGA CTSA FUCA1 GAA HEXA NAGA
2 lysosomal lumen GO:0043202 9.35 CTSA FUCA1 GAA HEXA NAGLU
3 azurophil granule lumen GO:0035578 9.33 AGA CTSA FUCA1
4 lysosome GO:0005764 9.17 AGA CTSA FUCA1 GAA HEXA NAGA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.62 AGA CTSA FUCA1 GAA
2 carbohydrate metabolic process GO:0005975 9.46 FUCA1 GAA HEXA NAGA
3 glycosphingolipid metabolic process GO:0006687 9.43 CTSA HEXA
4 lysosome organization GO:0007040 9.4 GAA NAGLU
5 glycosaminoglycan catabolic process GO:0006027 9.37 FUCA1 NAGLU
6 metabolic process GO:0008152 9.35 FUCA1 GAA HEXA NAGA NAGLU
7 glycoside catabolic process GO:0016139 9.26 FUCA1 NAGA
8 glycolipid catabolic process GO:0019377 8.62 FUCA1 NAGA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 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 9.02 FUCA1 GAA HEXA NAGA NAGLU

Sources for Fucosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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