Rare Gastroenterology News

Disease Profile

Fucosidosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

E77.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

Categories

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;

Summary

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.[1] The only currently available treatment is bone marrow transplant, the results of which have been variable and need further study.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anterior beaking of lumbar vertebrae
0008430
Brachycephaly
Short and broad skull
0000248
Coarse facial features
Coarse facial appearance
0000280
Dysostosis multiplex
0000943
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Generalized hyperkeratosis
0005595
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hepatomegaly
Enlarged liver
0002240
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Hypothyroidism
Underactive thyroid
0000821
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Kyphosis
Hunched back
Round back

[ more ]

0002808
Lipoatrophy
Loss of fat tissue in localized area
0100578
Mucopolysacchariduria
0008155
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
30%-79% of people have these symptoms
Abnormality of the gallbladder
0005264
Corneal opacity
0007957
Decreased muscle mass
0003199
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure
0001250
Spastic tetraplegia
0002510
Vascular skin abnormality
0011276
5%-29% of people have these symptoms
Abnormal pyramidal sign
0007256
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Abnormality of the nail
0001597
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall
0004298
Absent/hypoplastic coccyx
Absent/small tailbone
Absent/underdeveloped tailbone

[ more ]

0008436
Absent/hypoplastic paranasal sinuses
0005453
Angiokeratoma
0001014
Anhidrosis
Lack of sweating
Sweating dysfunction

[ more ]

0000970
Anterior beaking of thoracic vertebrae
0004630
Autosomal recessive inheritance
0000007
Barrel-shaped chest
Barrel chest
0001552
Cerebral atrophy
Degeneration of cerebrum
0002059
Cervical platyspondyly
0004558
Coxa valga
0002673
Dry skin
0000958
Elevated sweat chloride
0012236
Flexion contracture
Flexed joint that cannot be straightened
0001371
Frontal bossing
0002007
Hernia
0100790
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Oligosacchariduria
0010471
Polyneuropathy
Peripheral nerve disease
0001271
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Scoliosis
0002650
Shield chest
0000914
Short stature
Decreased body height
Small stature

[ more ]

0004322
Splenomegaly
Increased spleen size
0001744
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Tortuosity of conjunctival vessels
0000503
Vacuolated lymphocytes
0001922
Wide nose
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increas

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Newborn Screening

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Organizations Providing General Support

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

            In-Depth Information

            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Fucosidosis. Click on the link to view a sample search on this topic.

              References

              1. Fucosidosis. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/fucosidosis. Accessed 11/19/2013.
              2. Froissart R, Maire I. Fucosidosis. Orphanet. February 2005; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=349. Accessed 11/19/2013.

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