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Disease Profile
Methylcobalamin deficiency cbl G type
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
All ages
ICD-10
E72.1
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)
Homocystinuria-megaloblastic anemia, cblG complementation type; cblG; Methionine synthase deficiency
Categories
Blood Diseases; Congenital and Genetic Diseases; Kidney and Urinary Diseases;
Summary
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain
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
|
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Blindness | 0000618 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Decreased methionine synthase activity | 0003524 | |
| Decreased methylcobalamin | 0003223 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties in infancy | 0008872 | |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Global |
0001263 | |
| Homocystinuria |
High urine homocystine levels
|
0002156 |
| Hyperhomocystinemia |
Elevated blood homocystine
|
0002160 |
| Hypomethioninemia |
Decreased plasma methionine
Decreased serum methionine
[ more ] |
0003658 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Megaloblastic |
0001889 | |
| Poor coordination | 0002370 | |
| 0001250 | ||
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.
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
-
HCU Network America
623 Creek Lane
Flourtown, PA 19031
Telephone: 630-360-2087
E-mail: info@hcunetworkamerica.org
Website: https://hcunetworkamerica.org/ -
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 Methylcobalamin deficiency cbl G type. 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.
- 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 Methylcobalamin deficiency cbl G type. Click on the link to view a sample search on this topic.
References
- Nuria Carrillo-Carrasco, MD, David Adams, MD, PhD, and Charles P Venditti, MD, PhD. Disorders of Intracellular Cobalamin Metabolism. GeneReviews. November 2013; https://www.ncbi.nlm.nih.gov/books/NBK1328/.
- Homocystinuria without methylmalonic aciduria. Orphanet. March 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=622.