Rare Nephrology News
Disease Profile
RFT1-CDG (CDG-In)
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
Age of onset
Neonatal
ICD-10
E77.8
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)
CDG syndrome type In; Congenital disorder of glycosylation, type In ; CDG-In;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Orpha Number: 244310
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
|
|---|---|---|
| 100% of people have these symptoms | ||
| Global |
0001263 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 0001250 | ||
| 80%-99% of people have these symptoms | ||
| Arthrogryposis multiplex congenita | 0002804 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| 30%-79% of people have these symptoms | ||
| Abnormal bleeding |
Bleeding tendency
|
0001892 |
| Abnormal thrombosis |
Abnormal blood clot
|
0001977 |
| Abnormality of coagulation | 0001928 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Inverted nipples | 0003186 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
| 5%-29% of people have these symptoms | ||
| Abnormal posterior cranial fossa morphology | 0000932 | |
| 0001251 | ||
| Bilateral basal ganglia lesions | 0007146 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Hyperintensity of cerebral white matter on |
0030890 | |
| Stroke-like episode | 0002401 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal isoelectric focusing of serum transferrin | 0003160 | |
| Abnormality of the coagulation cascade | 0003256 | |
| Adducted thumb |
Inward turned thumb
|
0001181 |
| 0000007 | ||
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Myoclonus | 0001336 | |
| Pes valgus | 0008081 | |
| Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
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
-
CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: info@cdgcare.com
Website: https://cdgcare.com/
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.
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.