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Disease Profile
Mucolipidosis III alpha/beta
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.
Unknown
Age of onset
Childhood
ICD-10
E77.0
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)
ML3; ML 3 A; Pseudo-Hurler polydystrophy;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases
Summary
Mucolipidosis III (ML III) is a rare and progressive
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 | ||
Abnormal form of the vertebral bodies | 0003312 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Hypoplastic inferior ilia | 0008821 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Large iliac wings | 0008818 | |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
30%-79% of people have these symptoms | ||
Acne | 0001061 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Corneal opacity | 0007957 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Inguinal hernia | 0000023 | |
5%-29% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Cleft roof of mouth
|
0000175 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Percent of people who have these symptoms is not available through HPO | ||
Aortic regurgitation | 0001659 | |
0000007 | ||
Broad ribs |
Wide ribs
|
0000885 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
Constrictive median neuropathy | 0012185 | |
0001363 | ||
Deficiency of N-acetylglucosamine-1-phosphotransferase | 0003264 | |
Dysostosis multiplex | 0000943 | |
Hyperopic astigmatism | 0000484 | |
Increased serum beta-hexosaminidase | 0003333 | |
Increased serum iduronate sulfatase level | 0003538 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Irregular carpal bones | 0004236 | |
J-shaped sella turcica | 0002680 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Opacification of the corneal stroma | 0007759 | |
Retinal degeneration |
Retina degeneration
|
0000546 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
0002650 | ||
Shallow acetabular fossae | 0003182 | |
Short long bone |
Long bone shortening
|
0003026 |
Short ribs | 0000773 | |
Soft |
Soft tissue swelling of hinge joints
|
0006162 |
Specific learning disability | 0001328 | |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
Thickened skin |
Thick skin
|
0001072 |
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.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
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
-
National MPS Society
P.O. Box 14686
Durham, NC 27709-4686
Toll-free: 1-877-MPS-1001 (1-877-677-1001)
Telephone: +1-919-806-0101
Fax: +1-919-806-2055
E-mail: [email protected]
Website: https://mpssociety.org/ -
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: [email protected]
Website: https://www.ismrd.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
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic diseases.
- Genetics Home Reference (GHR) contains information on Mucolipidosis III alpha/beta. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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 Mucolipidosis III alpha/beta. Click on the link to view a sample search on this topic.
References
- Mucolipidosis III alpha/beta. Genetics Home Reference; October 2014; https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta#genes.
- Jules G Leroy, MD, PhD, Sara S Cathey, MD, FACMG, and Michael J Friez, PhD. Mucolipidosis III Alpha/Beta. GeneReviews; May 10, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1875/.