MCID: FCS002
MIFTS: 68

Fucosidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Mental diseases categories
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Summaries for Fucosidosis

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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 based summary: Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to angiokeratoma and metachromatic leukodystrophy, and has symptoms including brachycephaly/flat occiput, frontal bossing/prominent forehead and facial dysmorphism. An important gene associated with Fucosidosis is FUCA1 (fucosidase, alpha-L- 1, tissue), and among its related pathways are Sphingolipid metabolism and Glycosphingolipid biosynthesis - globo series. The compounds Tetrahexosylceramide (d18:1/12:0) and cerebroside 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:65 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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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Fucosidosis, Aliases & Descriptions:

Name: Fucosidosis 30 8 9 42 20 22 21 46 10 44 48
Alpha-L-Fucosidase Deficiency 42 48
Fucosidase Deficiency Disease 21 62
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14500
OMIM46 230000
NCIt39 C61274
MeSH34 D005645
SNOMED-CT57 64716005, 190937009
MESH via Orphanet35 D005645
ICD10 via Orphanet26 E77.1
UMLS via Orphanet63 C0016788

Related Diseases for Fucosidosis

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Graphical network of the top 20 diseases related to Fucosidosis:



Diseases related to fucosidosis

Symptoms for Fucosidosis

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Symptoms by clinical synopsis from OMIM:

230000

Clinical features from OMIM:

230000

Symptoms:

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

HPO human phenotypes related to Fucosidosis:

(show all 67)
id Description Frequency HPO Source Accession
1 coarse facial features hallmark (90%) HP:0000280
2 hearing impairment hallmark (90%) HP:0000365
3 hypothyroidism hallmark (90%) HP:0000821
4 hyperkeratosis hallmark (90%) HP:0000962
5 hyperhidrosis hallmark (90%) HP:0000975
6 frontal bossing hallmark (90%) HP:0002007
7 hepatomegaly hallmark (90%) HP:0002240
8 skeletal dysplasia hallmark (90%) HP:0002652
9 kyphosis hallmark (90%) HP:0002808
10 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
11 mucopolysacchariduria hallmark (90%) HP:0008155
12 cognitive impairment hallmark (90%) HP:0100543
13 lipoatrophy hallmark (90%) HP:0100578
14 seizures typical (50%) HP:0001250
15 muscular hypotonia typical (50%) HP:0001252
16 hypertonia typical (50%) HP:0001276
17 splenomegaly typical (50%) HP:0001744
18 recurrent respiratory infections typical (50%) HP:0002205
19 amyotrophy typical (50%) HP:0003202
20 hemiplegia/hemiparesis typical (50%) HP:0004374
21 abnormality of the gallbladder typical (50%) HP:0005264
22 opacification of the corneal stroma typical (50%) HP:0007759
23 abnormality of the teeth occasional (7.5%) HP:0000164
24 acrocyanosis occasional (7.5%) HP:0001063
25 abnormality of the nail occasional (7.5%) HP:0001597
26 cardiomegaly occasional (7.5%) HP:0001640
27 autosomal recessive inheritance HP:0000007
28 macroglossia HP:0000158
29 thick lower lip vermilion HP:0000179
30 coarse facial features HP:0000280
31 hypertelorism HP:0000316
32 hearing impairment HP:0000365
33 wide nose HP:0000445
34 tortuosity of conjunctival vessels HP:0000503
35 thick eyebrow HP:0000574
36 shield chest HP:0000914
37 dysostosis multiplex HP:0000943
38 dry skin HP:0000958
39 anhidrosis HP:0000970
40 angiokeratoma HP:0001014
41 intellectual disability HP:0001249
42 seizures HP:0001250
43 polyneuropathy HP:0001271
44 flexion contracture HP:0001371
45 barrel-shaped chest HP:0001552
46 cardiomegaly HP:0001640
47 splenomegaly HP:0001744
48 vacuolated lymphocytes HP:0001922
49 frontal bossing HP:0002007
50 cerebral atrophy HP:0002059
51 recurrent respiratory infections HP:0002205
52 hepatomegaly HP:0002240
53 spastic tetraplegia HP:0002510
54 scoliosis HP:0002650
55 coxa valga HP:0002673
56 lumbar hyperlordosis HP:0002938
57 abnormality of the abdominal wall HP:0004298
58 short stature HP:0004322
59 cervical platyspondyly HP:0004558
60 anterior beaking of thoracic vertebrae HP:0004630
61 absent/hypoplastic paranasal sinuses HP:0005453
62 anterior beaking of lumbar vertebrae HP:0008430
63 absent/hypoplastic coccyx HP:0008436
64 oligosacchariduria HP:0010471
65 prominent forehead HP:0011220
66 elevated sweat chloride HP:0012236
67 hernia HP:0100790

Drugs & Therapeutics for Fucosidosis

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Drug clinical trials:

Search ClinicalTrials for Fucosidosis

Search NIH Clinical Center 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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Genetic tests related to Fucosidosis:

id Genetic test Affiliating Genes
1 Fucosidosis20 22 FUCA1

Anatomical Context for Fucosidosis

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MalaCards organs/tissues related to Fucosidosis:

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

Animal Models for Fucosidosis or affiliated genes

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Publications for Fucosidosis

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Articles related to Fucosidosis:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Siblings with fucosidosis. (25250075)
2014
2
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. (22911605)
2012
3
Fucosidosis in a domestic shorthair cat. (21115380)
2011
4
Increased cerebellar volume in the early stage of fucosidosis: a case control study. (21384124)
2011
5
Investigation of cerebrocortical and cerebellar pathology in canine fucosidosis and comparison to aged brain. (21056668)
2011
6
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. (18504684)
2008
7
Fucosidosis: a therapeutic challenge. (17845186)
2007
8
Fucosidosis with angiokeratoma. Immunohistochemical &amp; electronmicroscopic study of a new case and literature review. (16008696)
2005
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
Genomic screening for fucosidosis in English Springer Spaniels. (10376901)
1999
12
Allogeneic bone marrow transplantation for fucosidosis. (7742750)
1995
13
Mutations in fucosidosis gene: a review. (8739734)
1995
14
A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient. (7874128)
1994
15
A 5' splice site mutation in fucosidosis. (8097260)
1993
16
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient. (1281988)
1992
17
Defective expression of alpha-L-fucosidase by lymphoid cells of a fucosidosis patient. (1873910)
1991
18
Characterization and 400-MHz 1H-NMR analysis of urinary fucosyl glycoasparagines in fucosidosis. (1935941)
1991
19
Reproductive abnormalities in canine fucosidosis. (2760271)
1989
20
Improvement in the neurologic signs and storage lesions of fucosidosis in dogs given marrow transplants at an early age. (2815291)
1989
21
Fucosidosis: ultrastructural study of the eye in an adult. (2721986)
1989
22
Comparison of the urinary glycoconjugates excreted by patients with type I and type II fucosidosis. (3802494)
1987
23
Human and canine fucosidosis: a comparative lectin histochemistry study. (4050341)
1985
24
Canine fucosidosis. (4071939)
1985
25
Canine fucosidosis: a biochemical and genetic investigation. (6463379)
1984
26
Genetic and demographic characterization of a population with high incidence of fucosidosis. (7095811)
1982
27
Cranial CT in fucosidosis. (6797284)
1981
28
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. (6893741)
1980
29
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
30
Detection of carriers and prenatal diagnosis for fucosidosis in Calabria. (511146)
1979
31
Metabolic correction of fucosidosis fibroblasts by human alpha-L-fucosidase. (762198)
1979
32
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis. (728478)
1978
33
Fucosidosis in Calabria: founder effect or high gene frequency. (64894)
1977
34
Genetical and biochemical studies of two variants of fucosidosis. (614046)
1977
35
Fucosidosis with angiokeratoma. Electron microscopic changes in the skin. (578107)
1977
36
Enzyme activity in fucosidosis. (64799)
1977
37
Fucosidosis. (402253)
1977
38
alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients. (17844)
1977
39
Oral lesions in fucosidosis. (819638)
1976
40
Oligosaccharide storage in brains from patients with fucosidosis, GM1-gangliosidosis and GM2-gangliosidosis (Sandhoff's disease). (823301)
1976
41
Fucosidosis type 2. (814528)
1976
42
Ocular findings in fucosidosis. (821560)
1976
43
Structure of the accumulating oligosaccharide in fucosidosis. (972144)
1976
44
Fucosidosis: ultrastructural study of conjunctiva and skin and enzyme analysis of tears. (955828)
1976
45
Human alpha-fucosidase. Single residual enzymatic form in fucosidosis. (4135)
1976
46
Fucosidosis type 2. Repository identification Nos. GM-289 to GM-292. (1192845)
1975
47
Roentgenographic findings in fucosidosis type 2. (167599)
1975
48
Fucosidosis. (4268654)
1973
49
Mannosidosis and fucosidosis. (5450281)
1970
50
Biochemical and ultrastructural studies in a case of mucopolysaccharidosis &quot;F&quot; (fucosidosis). (4247654)
1969

Variations for Fucosidosis

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UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:

64
id Symbol AA change Variation ID SNP ID
1FUCA1p.Gly65AspVAR_002442
2FUCA1p.Ser68LeuVAR_002443
3FUCA1p.Leu410ArgVAR_016235

Clinvar genetic disease variations for Fucosidosis:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1FUCA1NM_000147.4(FUCA1): c.464C> T (p.Ser155Phe)single nucleotide variantPathogenicGRCh37Chr 1, 24192041: 24192041
2FUCA1NM_000147.4(FUCA1): c.790C> T (p.Arg264Ter)single nucleotide variantPathogenicGRCh37Chr 1, 24181029: 24181029
3FUCA1NM_000147.4(FUCA1): c.1279C> T (p.Gln427Ter)single nucleotide variantPathogenicrs118204450GRCh37Chr 1, 24172327: 24172327
4FUCA1FUCA1, 2-EX DELdeletionPathogenic
5FUCA1NM_000147.4(FUCA1): c.1138G> T (p.Glu380Ter)single nucleotide variantPathogenicrs80358195GRCh37Chr 1, 24175161: 24175161
6FUCA1FUCA1, IVS5DS, G-A, +1single nucleotide variantPathogenic
7FUCA1NM_000147.4(FUCA1): c.244C> T (p.Gln82Ter)single nucleotide variantPathogenicrs80358196GRCh37Chr 1, 24194533: 24194533
8FUCA1NM_000147.4(FUCA1): c.1160G> A (p.Trp387Ter)single nucleotide variantPathogenicrs80358197GRCh37Chr 1, 24175139: 24175139
9FUCA1NM_000147.4(FUCA1): c.648C> A (p.Tyr216Ter)single nucleotide variantPathogenicrs80358198GRCh37Chr 1, 24189638: 24189638
10FUCA1FUCA1, 1-BP DEL, EX2deletionPathogenic
11FUCA1FUCA1, 1-BP DEL, EX5deletionPathogenic
12FUCA1FUCA1, 1-BP DEL, EX3deletionPathogenic
13FUCA1NM_000147.4(FUCA1): c.1229T> G (p.Leu410Arg)single nucleotide variantPathogenicrs80358199GRCh37Chr 1, 24172595: 24172595

Expression for genes affiliated with Fucosidosis

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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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Pathways related to Fucosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7HEXA, GLA
29.4NAGA, HEXA, GLA
38.7FUCA1, NAGA, HEXA, GLA, AGA
48.0FUCA2, FUCA1, HEXA, ENGASE, AGA

Compounds for genes affiliated with Fucosidosis

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 61Tocris Bioscience
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Compounds related to Fucosidosis according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1Tetrahexosylceramide (d18:1/12:0)2410.1HEXA, NAGA
2cerebroside4410.1HEXA, GLA
3Trihexosylceramide (d18:1/24:0)2410.0HEXA, GLA
4gal(beta1-3)galnac4410.0LGALS1, NAGA
5Trihexosylceramide (d18:1/24:1(15Z))2410.0GLA, HEXA
6con a4410.0LGALS1, FUCA1
7Trihexosylceramide (d18:1/25:0)2410.0GLA, HEXA
8Trihexosylceramide (d18:1/26:1(17Z))2410.0GLA, HEXA
9Trihexosylceramide (d18:1/9Z-18:1)2410.0GLA, HEXA
10Trihexosylceramide (d18:1/22:0)2410.0HEXA, GLA
11Trihexosylceramide (d18:1/12:0)249.9GLA, HEXA
12xylose449.9LGALS1, GLA
13Trihexosylceramide (d18:1/16:0)249.9GLA, HEXA
14n-acetyllactosamine44 2410.9LGALS1, GLA
15Trihexosylceramide (d18:1/18:0)249.9GLA, HEXA
16Trihexosylceramide (d18:1/20:0)249.9GLA, HEXA
17carbon449.8GLA, NAGA, FUCA1
18Lactosylceramide (d18:1/25:0)249.8HEXA, GLA
19Lactosylceramide (d18:1/26:0)249.8GLA, HEXA
20glycolipid449.8NAGA, HEXA, GLA
21Lactosylceramide (d18:1/26:1(17Z))249.8GLA, HEXA
22lactose44 1110.8GLA, LGALS1
23l-fucose44 2410.7FUCA1, FUCA2
24Lactosylceramide (d18:1/24:1(15Z))249.7HEXA, GLA
251-deoxynojirimycin61 44 1111.7GLA, LGALS1, FUCA1
26glutaraldehyde449.7GLA, LGALS1, FUCA1
27methionine449.6GLA, LGALS1, FUCA1
28Lactosylceramide (d18:1/16:0)249.6HEXA, GLA
29galactose449.6GLA, LGALS1
30mannose 6-phosphate44 2410.5FUCA1, HEXA, GLA, AGA
31Lactosylceramide (d18:1/12:0)249.4HEXA, GLA
32glucose449.3FUCA1, NAGA, LGALS1, GLA
33ganglioside449.3FUCA1, HEXA, LGALS1, GLA
34mannose449.3FUCA1, HEXA, LGALS1, GLA
35n-acetylglucosamine449.0AGA, LGALS1, HEXA, NAGA, FUCA1
36Water248.6FUCA2, FUCA1, NAGA, HEXA, GLA

GO Terms for genes affiliated with Fucosidosis

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Cellular components related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.7GLA, HEXA
2lysosomeGO:0057648.0AGA, GLA, NAGA, FUCA1, FUCA2

Biological processes related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:0464779.8NAGA, GLA
2sphingolipid metabolic processGO:0066659.7HEXA, GLA
3oligosaccharide metabolic processGO:0093119.7GLA, NAGA
4glycosphingolipid metabolic processGO:0066879.4HEXA, GLA
5fucose metabolic processGO:0060049.4FUCA1, FUCA2
6glycoside catabolic processGO:0161398.8FUCA2, FUCA1, NAGA, GLA

Molecular functions related to Fucosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:0045579.8GLA, NAGA
2fucose bindingGO:0428069.4FUCA1, FUCA2
3galactoside bindingGO:0169369.3GLA, LGALS1
4alpha-L-fucosidase activityGO:0045609.3FUCA1, FUCA2

Products for genes affiliated with Fucosidosis

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet