FUCA1D
MCID: FCS002
MIFTS: 57

Fucosidosis (FUCA1D) malady

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

Aliases & Classifications for Fucosidosis

Aliases & Descriptions for Fucosidosis:

Name: Fucosidosis 54 38 12 50 24 25 56 66 29 13 52 42 14
Alpha-L-Fucosidase Deficiency 50 24 56 66
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 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
fucosidosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 230000
Disease Ontology 12 DOID:14500
ICD10 33 E77.1
MeSH 42 D005645
NCIt 47 C61274
SNOMED-CT 64 190937009 64716005
Orphanet 56 ORPHA349
MESH via Orphanet 43 D005645
UMLS via Orphanet 70 C0016788
ICD10 via Orphanet 34 E77.1
MedGen 40 C0016788
UMLS 69 C0016788

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 mannosidosis and fucosidosis type 1, and has symptoms including seizures, abnormal pyramidal signs and hypothyroidism. 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.

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... (230000) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 by clinical synopsis from OMIM:

230000

Clinical features from OMIM:

230000

Human phenotypes related to Fucosidosis:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 abnormal pyramidal signs 56 32 Occasional (29-5%) HP:0007256
3 hypothyroidism 56 32 Very frequent (99-80%) HP:0000821
4 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
5 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
6 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
7 kyphosis 56 32 Very frequent (99-80%) HP:0002808
8 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
9 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
10 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
11 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
12 corneal opacity 56 32 Frequent (79-30%) HP:0007957
13 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
14 anterior beaking of lumbar vertebrae 56 32 Very frequent (99-80%) HP:0008430
15 vascular skin abnormality 56 32 Frequent (79-30%) HP:0011276
16 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
17 decreased muscle mass 56 32 Frequent (79-30%) HP:0003199
18 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
19 dysostosis multiplex 56 32 Very frequent (99-80%) HP:0000943
20 acrocyanosis 56 32 Occasional (29-5%) HP:0001063
21 abnormality of the nail 56 32 Occasional (29-5%) HP:0001597
22 cardiomegaly 56 32 Occasional (29-5%) HP:0001640
23 spastic tetraplegia 56 32 Frequent (79-30%) HP:0002510
24 abnormality of the gallbladder 56 32 Frequent (79-30%) HP:0005264
25 generalized hyperkeratosis 56 32 Very frequent (99-80%) HP:0005595
26 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
27 prominent forehead 56 32 Very frequent (99-80%) HP:0011220
28 lipoatrophy 56 32 Very frequent (99-80%) HP:0100578
29 dry skin 32 HP:0000958
30 hypertelorism 32 HP:0000316
31 frontal bossing 32 HP:0002007
32 intellectual disability 32 HP:0001249
33 spasticity 56 Frequent (79-30%)
34 scoliosis 32 HP:0002650
35 macroglossia 32 HP:0000158
36 splenomegaly 32 HP:0001744
37 recurrent respiratory infections 32 HP:0002205
38 abnormal facial shape 56 Very frequent (99-80%)
39 thick eyebrow 32 HP:0000574
40 short stature 32 HP:0004322
41 flexion contracture 32 HP:0001371
42 abnormality of the cardiovascular system 56 Frequent (79-30%)
43 thick lower lip vermilion 32 HP:0000179
44 hernia 32 HP:0100790
45 coxa valga 32 HP:0002673
46 angiokeratoma 32 HP:0001014
47 oligosacchariduria 32 HP:0010471
48 wide nose 32 HP:0000445
49 anhidrosis 32 HP:0000970
50 polyneuropathy 32 HP:0001271

UMLS symptoms related to Fucosidosis:


seizures

Drugs & Therapeutics for Fucosidosis

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

(show all 45)
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 Prednisolone hemisuccinate Phase 2, Phase 3
8 Prednisolone phosphate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Antilymphocyte Serum Phase 2, Phase 3
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3
15
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
16
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
17
rituximab Approved Phase 2 174722-31-7 10201696
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Thiotepa Approved Phase 2 52-24-4 5453
20
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
21
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Mesna Approved Phase 2 3375-50-6 598
26
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
28 tannic acid Approved, Nutraceutical Phase 2
29 N-monoacetylcystine Phase 2
30 Thioctic Acid Phase 2
31 Tocopherols Phase 2
32 Tocotrienols Phase 2
33 Vitamins Phase 2
34 Antimetabolites Phase 2
35 Antimetabolites, Antineoplastic 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 Tocopherol Nutraceutical Phase 2
43 Tocotrienol Nutraceutical Phase 2
44 Alpha-lipoic Acid Nutraceutical Phase 2
45 Krestin

Interventional clinical trials:


id Name Status NCT ID Phase
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
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
5 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
6 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
7 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
8 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
9 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900

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, Liver, Testes, Small Intestine

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
Novel mutations in the FUCA1 gene that cause fucosidosis. ( 27706744 )
2016
3
Associations between neurologic dysfunction and lesions in canine fucosidosis. ( 26711085 )
2016
4
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. ( 27491075 )
2016
5
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
6
Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder. ( 26622931 )
2015
7
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. ( 26713028 )
2015
8
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
9
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis. ( 26537923 )
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
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
12
Siblings with fucosidosis. ( 25250075 )
2014
13
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. ( 25818965 )
2014
14
Hypomyelination With T2-hypointense Globi Pallidi in a Child With Fucosidosis. ( 23666038 )
2013
15
Teaching NeuroImages: Distinct neuroimaging features of fucosidosis. ( 22291069 )
2012
16
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
17
Increased cerebellar volume in the early stage of fucosidosis: a case control study. ( 21384124 )
2011
18
Treatment of canine fucosidosis by intracisternal enzyme infusion. ( 21575633 )
2011
19
Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain. ( 21056668 )
2011
20
Fucosidosis in a domestic shorthair cat. ( 21115380 )
2011
21
Myelin genes are downregulated in canine fucosidosis. ( 21683140 )
2011
22
Canine fucosidosis: a neuroprogressive disorder. ( 21282938 )
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
Fucosidosis: a therapeutic challenge. ( 17845186 )
2007
27
Fucosidosis and anesthesia. ( 17768480 )
2007
28
Fucosidosis: MRI and MRS findings. ( 17704911 )
2007
29
Anesthesia for fucosidosis. ( 17767638 )
2007
30
Mutation identification and characterization of a Taiwanese patient with fucosidosis. ( 17427030 )
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
MR brain imaging of fucosidosis type I. ( 11290499 )
2001
37
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. ( 11360116 )
2001
38
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. ( 10761834 )
2000
39
Spectrum of mutations in fucosidosis. ( 10094192 )
1999
40
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ( 10571005 )
1999
41
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
42
Fucosidosis: immunological studies and chronological neuroradiological changes. ( 10102160 )
1999
43
Genomic screening for fucosidosis in English Springer Spaniels. ( 10376901 )
1999
44
Mutation analysis of a Japanese patient with fucosidosis. ( 10496076 )
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
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. ( 9267851 )
1997
49
Cutaneous manifestations of fucosidosis. ( 9155966 )
1997
50
The molecular defect underlying canine fucosidosis. ( 8730282 )
1996

Variations for Fucosidosis

UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:

66
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 GRCh37 Chromosome 1, 24194533: 24194533
2 FUCA1 NM_000147.4(FUCA1): c.1279C> T (p.Gln427Ter) single nucleotide variant Pathogenic rs118204450 GRCh37 Chromosome 1, 24172327: 24172327
3 FUCA1 FUCA1, 2-EX DEL deletion Pathogenic
4 FUCA1 NM_000147.4(FUCA1): c.1138G> T (p.Glu380Ter) single nucleotide variant Pathogenic rs80358195 GRCh37 Chromosome 1, 24175161: 24175161
5 FUCA1 FUCA1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
6 FUCA1 NM_000147.4(FUCA1): c.1160G> A (p.Trp387Ter) single nucleotide variant Pathogenic rs80358197 GRCh37 Chromosome 1, 24175139: 24175139
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 9.56 FUCA1 GAA HEXA NAGA
2 neutrophil degranulation GO:0043312 9.46 AGA CTSA FUCA1 GAA
3 glycosphingolipid metabolic process GO:0006687 9.32 CTSA HEXA
4 glycoside catabolic process GO:0016139 8.96 FUCA1 NAGA
5 carbohydrate metabolic process GO:0005975 8.92 FUCA1 GAA HEXA 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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