Rare Rheumatology News
Advertisement
Disease Profile
Fucosidosis
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 >
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 |
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 |
Low or weak muscle tone
|
0001252 |
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 | |
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 |
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 |
0002650 | ||
Shield chest | 0000914 | |
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 |
0001922 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increas
DiagnosisMaking 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
Newborn Screening
OrganizationsSupport 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 moreThese 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
References
Rare Rheumatology News |