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Disease Profile
Hereditary folate malabsorption
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.
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Age of onset
Infancy
ICD-10
D52.8
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)
Folate malabsorption, hereditary; Congenital folate malabsorption; Congenital defect of folate absorption;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Orpha Number: 90045
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 | ||
Anorexia | 0002039 | |
Cheilitis |
Inflammation of the lips
|
0100825 |
Decreased circulating |
0004313 | |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Global |
0001263 | |
Glossitis |
Inflammation of the tongue
Smooth swollen tongue
[ more ] |
0000206 |
Megaloblastic |
0001889 | |
Nausea and vomiting | 0002017 | |
Pallor | 0000980 | |
30%-79% of people have these symptoms | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
0009830 | ||
0001250 | ||
5%-29% of people have these symptoms | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Eosinophilia |
High blood eosinophil count
|
0001880 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Decreased immune function
|
0002721 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Low platelet count
|
0001873 | |
Percent of people who have these symptoms is not available through HPO | ||
0001251 | ||
Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
0000007 | ||
Basal ganglia calcification | 0002135 | |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Feeding difficulties in infancy | 0008872 | |
Folate-responsive megaloblastic anemia | 0004851 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Irritability |
Irritable
|
0000737 |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Oral ulcer |
Mouth ulcer
|
0000155 |
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
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
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
- Genetics Home Reference (GHR) contains information on Hereditary folate malabsorption. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.