MCID: FCS002
MIFTS: 59

Fucosidosis malady

Neuronal, Bone, Metabolic, Fetal categories

Summaries for Fucosidosis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 metachromatic leukodystrophy, and has symptoms including frontal bossing/prominent forehead, autosomal recessive inheritance and motor deficit/trouble. 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 skin, liver and brain.

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

Description from OMIM:47 230000

Aliases & Classifications for Fucosidosis

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fucosidosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fucosidosis 8 9 43 20 22 21 47 10 45 49 31
alpha-l-fucosidase deficiency 43 49
fucosidase deficiency disease 21 61
lysosomal storage disease caused by defective alpha-l-fucosidase with accumulation of fucose in the tissues 43
alpha fucosidase deficiency 8
alpha-fucosidase deficiency 21
a-fucosidase deficiency 8
fucosidase deficiency 21


External Ids:

Disease Ontology8 DOID:14500
MeSH35 D005645
NCIt40 C61274
OMIM47 230000
SNOMED-CT57 190937009, 64716005
MESH via Orphanet36 D005645
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet58 64716005

Related Diseases for Fucosidosis

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



Diseases related to fucosidosis

Clinical Features for Fucosidosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

230000

Clinical synopsis from OMIM:

230000

Symptoms:

49 (show all 35)
  • frontal bossing/prominent forehead
  • autosomal recessive inheritance
  • motor deficit/trouble
  • pyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • kyphosis
  • hyperhidrosis/increased sweating
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypothyroidy
  • hypotonia
  • coarse face
  • corneal clouding/opacity/vascularisation
  • hearing loss/hypoacusia/deafness
  • storage liver disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • repeat respiratory infections
  • facial dysmorphism
  • anomalies of teeth and dentition
  • 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

Drugs & Therapeutics for Fucosidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Fucosidosis:

id Genetic test Affiliating Genes
1 Fucosidosis20 22 FUCA1

Anatomical Context for Fucosidosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Fucosidosis:

33
Skin, Liver, Brain, Bone marrow, Small intestine

Animal Models for Fucosidosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Fucosidosis

Sources:
51PubMed
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Articles related to Fucosidosis:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Teaching NeuroImages: Distinct neuroimaging features of fucosidosis. (22291069)
2012
2
Fucosidosis in a domestic shorthair cat. (21115380)
2011
3
Treatment of canine fucosidosis by intracisternal enzyme infusion. (21575633)
2011
4
Canine fucosidosis: a neuroprogressive disorder. (21282938)
2011
5
Fucosidosis: a therapeutic challenge. (17845186)
2007
6
Diagnosis of fucosidosis through a skin rash. (16158002)
2005
7
MR brain imaging of fucosidosis type I. (11290499)
2001
8
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation. (11360116)
2001
9
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
10
Fucosidosis: immunological studies and chronological neuroradiological changes. (10102160)
1999
11
Mutation analysis of a Japanese patient with fucosidosis. (10496076)
1999
12
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. (9762612)
1998
13
Cutaneous manifestations of fucosidosis. (9155966)
1997
14
Fucosidosis: genetic and biochemical analysis of eight cases. (9039984)
1997
15
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. (9267851)
1997
16
The molecular defect underlying canine fucosidosis. (8730282)
1996
17
Allogeneic bone marrow transplantation for fucosidosis. (7742750)
1995
18
Mutations in fucosidosis gene: a review. (8739734)
1995
19
A nonsense mutation in two German patients with fucosidosis. (7581404)
1995
20
Angiokeratoma and fucosidosis. Immunohistochemical and ultrastructural study]. (8526427)
1995
21
Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy. (8600803)
1995
22
Fucosidosis in a Chinese girl. (7967488)
1994
23
Angiokeratoma corporis diffusum in fucosidosis. (7837199)
1994
24
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations. (8401503)
1993
25
Fucosidosis: four new mutations and a new polymorphism. (8504303)
1993
26
Defective expression of alpha-L-fucosidase by lymphoid cells of a fucosidosis patient. (1873910)
1991
27
Recurrent respiratory infections in a child with fucosidosis: is the mucus too thin for effective transport? (1896242)
1991
28
Heterogeneity of mRNA expression in Italian fucosidosis patients. (2565868)
1989
29
Low fibroblast fucosidase activity: false-positive diagnosis of fucosidosis in a patient with pseudohypoparathyroidism. (3116340)
1987
30
Adult fucosidosis: histochemical and ultrastructural studies of rectal mucosa biopsy. (6538300)
1984
31
The enzymic defect and storage products in canine fucosidosis. (6477509)
1984
32
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. (6893741)
1980
33
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis. (728478)
1978
34
Alpha-L-fucosidase in cultured bone marrow fibroblasts from fucosidosis patients. (122446)
1978
35
Fucosidosis and I-cell disease: a fine structural and silver-staining study of abnormal inclusion bodies in small-intestinal cells. (77075)
1978
36
Prenatal diagnosis of fucosidosis. (723904)
1978
37
Fucosidosis in Calabria: founder effect or high gene frequency. (64894)
1977
38
Genetical and biochemical studies of two variants of fucosidosis. (614046)
1977
39
Fucosidosis. I. Clinical and enzymological studies. (17840)
1977
40
Fucosidosis in a native-born Briton. (845276)
1977
41
Radiographic features of fucosidosis. (122443)
1977
42
Oral lesions in fucosidosis. (819638)
1976
43
Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292. (1192845)
1975
44
Roentgenographic findings in fucosidosis type 2. (167599)
1975
45
Fucosidosis: How many cases undetected? (51273)
1975
46
Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases. (4206842)
1974
47
Fucosidosis. (4268654)
1973
48
Letter: Genetic heterogeneity in fucosidosis. (4127242)
1973
49
Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts. (4624449)
1972
50
Fucosidosis. (4241464)
1969

Genetic Variations for Fucosidosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fucosidosis:

63
id Symbol AA change Variation SNP ID
1FUCA1p.Gly65AspVAR_002442
2FUCA1p.Ser68LeuVAR_002443
3FUCA1p.Leu410ArgVAR_016235

Expression for genes affiliated with Fucosidosis

Sources:
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

Sources:
30KEGG
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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

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Fucosidosis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1cerebroside4510.0HEXA, GLA
2gal(beta1-3)galnac459.9LGALS1, NAGA
3xylose459.8LGALS1, GLA
4glycolipid459.8HEXA, GLA, NAGA
5carbon459.7GLA, NAGA, FUCA1
61-deoxynojirimycin45 60 1111.7FUCA1, LGALS1, GLA
7glutaraldehyde459.7FUCA1, LGALS1, GLA
8sucrose45 11 2411.6FUCA1, GLA, MAL
9l-fucose45 2410.6FUCA2, FUCA1
10n-acetyllactosamine45 2410.6GLA, LGALS1
11mannose 6-phosphate45 2410.5HEXA, AGA, GLA, FUCA1
12methionine459.4FUCA1, LGALS1, GLA
13con a459.4FUCA1, LGALS1
14ganglioside459.3HEXA, GLA, LGALS1, FUCA1
15mannose459.3HEXA, GLA, LGALS1, FUCA1
16n-acetylglucosamine459.1FUCA1, LGALS1, NAGA, AGA, HEXA

GO Terms for genes affiliated with Fucosidosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fucosidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet