MCID: FCS002
MIFTS: 67

Fucosidosis malady

Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Fucosidosis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to angiokeratoma and lysosomal storage disease, and has symptoms including abnormal vertebral size/shape, vascular anomalies of skin/mucosae and mucopolysacchariduria. An important gene associated with Fucosidosis is FUCA1 (fucosidase, alpha-L- 1, tissue), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Lysosome. The compounds cerebroside and gal(beta1-3)galnac have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin.

Genetics Home Reference:21 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:63 Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that... more...

Description from OMIM:46 230000

Aliases & Classifications for Fucosidosis

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
fucosidosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fucosidosis 8 9 42 20 22 21 46 10 44 48 30
alpha-l-fucosidase deficiency 42 48
fucosidase deficiency disease 21 60
lysosomal storage disease caused by defective alpha-l-fucosidase with accumulation of fucose in the tissues 42
alpha fucosidase deficiency 8
alpha-fucosidase deficiency 21
a-fucosidase deficiency 8
fucosidase deficiency 21


External Ids:

Disease Ontology8 DOID:14500
MeSH34 D005645
NCIt39 C61274
OMIM46 230000
SNOMED-CT56 190937009, 64716005
MESH via Orphanet35 D005645
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet57 64716005

Related Diseases for Fucosidosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Fucosidosis:



Diseases related to fucosidosis

Clinical Features for Fucosidosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

230000

Clinical synopsis from OMIM:

230000

Symptoms:

48 (show all 35)
  • abnormal vertebral size/shape
  • vascular anomalies of skin/mucosae
  • mucopolysacchariduria
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • brachycephaly/flat occiput
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • lipoatrophy
  • gallbladder/common bile duct anomalies
  • structural anomalies of the cardio-circulatory system
  • nails anomalies
  • cardiomegaly
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • anomalies of teeth and dentition
  • facial dysmorphism
  • hyperhidrosis/increased sweating
  • kyphosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypertonia/spasticity/rigidity/stiffness
  • pyramidal syndrome
  • motor deficit/trouble
  • autosomal recessive inheritance
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypothyroidy
  • hypotonia
  • repeat respiratory infections
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • storage liver disease
  • hearing loss/hypoacusia/deafness
  • corneal clouding/opacity/vascularisation
  • coarse face
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Fucosidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Fucosidosis

Drug clinical trials:

Search ClinicalTrials for Fucosidosis

Search NIH Clinical Center for Fucosidosis

Search CenterWatch for Fucosidosis

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Fucosidosis cell therapies at LifeMap Discovery.

Genetic Tests for Fucosidosis

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20GeneTests, 22GTR
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Genetic tests related to Fucosidosis:

id Genetic test Affiliating Genes
1 Fucosidosis20 22 FUCA1

Anatomical Context for Fucosidosis

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32MalaCards
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MalaCards organs/tissues related to Fucosidosis:

32
Bone, Brain, Skin, Bone marrow, Liver, Eye, Testes, Small intestine

Animal Models for Fucosidosis or affiliated genes

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Publications for Fucosidosis

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50PubMed
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Articles related to Fucosidosis:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Increased cerebellar volume in the early stage of fucosidosis: a case control study. (21384124)
2011
2
Treatment of canine fucosidosis by intracisternal enzyme infusion. (21575633)
2011
3
Characteristic MR spectroscopy in fucosidosis: in vitro investigation. (20336288)
2010
4
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. (18504684)
2008
5
Phenotypic spectrum of fucosidosis in Tunisia. (18651239)
2008
6
Fucosidosis: a therapeutic challenge. (17845186)
2007
7
Anesthesia for fucosidosis. (17767638)
2007
8
A novel FUCA1 mutation causing fucosidosis in a Chinese boy. (12408193)
2002
9
MR brain imaging of fucosidosis type I. (11290499)
2001
10
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. (10761834)
2000
11
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
12
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
13
A PCR-based diagnostic test for fucosidosis in English springer spaniels. (9564263)
1998
14
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. (9267851)
1997
15
Allogeneic bone marrow transplantation for fucosidosis. (7742750)
1995
16
Another unusual case of fucosidosis. (7623457)
1995
17
A single-base deletion mutation in a Turkish patient with fucosidosis. (8081399)
1994
18
Fucosidosis in a Chinese girl. (7967488)
1994
19
Angiokeratoma corporis diffusum in fucosidosis. (7837199)
1994
20
Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer. (1525209)
1992
21
Characterization and 400-MHz 1H-NMR analysis of urinary fucosyl glycoasparagines in fucosidosis. (1935941)
1991
22
Recurrent respiratory infections in a child with fucosidosis: is the mucus too thin for effective transport? (1896242)
1991
23
Heterogeneity of mRNA expression in Italian fucosidosis patients. (2565868)
1989
24
Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients. (2803224)
1989
25
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis. (2903668)
1988
26
Intrafamilial variability in fucosidosis. (3409541)
1988
27
Low fibroblast fucosidase activity: false-positive diagnosis of fucosidosis in a patient with pseudohypoparathyroidism. (3116340)
1987
28
Lysosomal enzyme replacement in neural tissue by allogeneic bone marrow transplantation following total lymphoid irradiation in canine fucosidosis. (3547950)
1987
29
Human and canine fucosidosis: a comparative lectin histochemistry study. (4050341)
1985
30
Fucosidosis type 3 with angiokeratoma corporis diffusum. (3928723)
1985
31
The enzymic defect and storage products in canine fucosidosis. (6477509)
1984
32
Genetic and demographic characterization of a population with high incidence of fucosidosis. (7095811)
1982
33
Urinary glycopeptides of fucosidosis. (438217)
1979
34
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis. (728478)
1978
35
Alpha-L-fucosidase in cultured bone marrow fibroblasts from fucosidosis patients. (122446)
1978
36
Prenatal diagnosis of fucosidosis. (723904)
1978
37
Genetical and biochemical studies of two variants of fucosidosis. (614046)
1977
38
Fucosidosis with angiokeratoma. Electron microscopic changes in the skin. (578107)
1977
39
Enzyme activity in fucosidosis. (64799)
1977
40
Fucosidosis. II. Ultrastructure. (577598)
1977
41
Fucosidosis: a neuropathological study. (1032031)
1976
42
Ocular findings in a case of fucosidosis. (952824)
1976
43
Fucosidosis. (937107)
1976
44
Characterization of alpha-L-fucosidase from two different families with fucosidosis. (11911)
1976
45
Roentgenographic findings in fucosidosis type 2. (167599)
1975
46
Fucosidosis: detection of the carrier state in peripheral blood leukocytes. (1185419)
1975
47
Silent allele as genetic basis of fucosidosis. (1178039)
1975
48
Prenatal diagnosis of fucosidosis. (1181074)
1975
49
Alpha-L-fucosidase and alpha-D-mannosidase activity in the white blood cells in the disease and carrier state of fucosidosis. (4746732)
1973
50
Mannosidosis and fucosidosis. (5450281)
1970

Genetic Variations for Fucosidosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fucosidosis:

62
id Symbol AA change Variation ID SNP ID
1FUCA1p.Gly65AspVAR_002442
2FUCA1p.Ser68LeuVAR_002443
3FUCA1p.Leu410ArgVAR_016235

Expression for genes affiliated with Fucosidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fucosidosis

Search GEO for disease gene expression data for Fucosidosis.

Pathways for genes affiliated with Fucosidosis

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29KEGG
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Pathways related to Fucosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6NAGA, GLA, HEXA
28.7HEXA, MFSD8, AGA, GLA, NAGA, FUCA1
38.1FUCA2, FUCA1, ENGASE, AGA, HEXA

Compounds for genes affiliated with Fucosidosis

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Fucosidosis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1cerebroside4410.0HEXA, GLA
2gal(beta1-3)galnac449.9LGALS1, NAGA
3xylose449.8LGALS1, GLA
4glycolipid449.8HEXA, GLA, NAGA
5carbon449.7GLA, NAGA, FUCA1
61-deoxynojirimycin44 59 1111.7FUCA1, LGALS1, GLA
7glutaraldehyde449.7FUCA1, LGALS1, GLA
8sucrose44 11 2411.6FUCA1, GLA, MAL
9l-fucose44 2410.6FUCA2, FUCA1
10n-acetyllactosamine44 2410.6GLA, LGALS1
11mannose 6-phosphate44 2410.5HEXA, AGA, GLA, FUCA1
12methionine449.4FUCA1, LGALS1, GLA
13con a449.4FUCA1, LGALS1
14ganglioside449.3HEXA, GLA, LGALS1, FUCA1
15mannose449.3HEXA, GLA, LGALS1, FUCA1
16n-acetylglucosamine449.1FUCA1, LGALS1, NAGA, AGA, HEXA

GO Terms for genes affiliated with Fucosidosis

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16Gene Ontology
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Cellular components related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.5FUCA2, FUCA1, NAGA, GLA, AGA

Biological processes related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:04647710.0NAGA, GLA
2glycoside catabolic processGO:01613910.0NAGA, GLA
3oligosaccharide metabolic processGO:0093119.8GLA, NAGA
4glycosphingolipid metabolic processGO:0066879.8GLA, HEXA
5myelinationGO:0425529.5MAL, HEXA
6fucose metabolic processGO:0060049.4FUCA2, FUCA1

Molecular functions related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.9NAGA, GLA
2fucose bindingGO:0428069.4FUCA2, FUCA1
3galactoside bindingGO:0169369.4LGALS1, GLA
4alpha-L-fucosidase activityGO:0045609.3FUCA2, FUCA1

Products for genes affiliated with Fucosidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fucosidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet