Rare Cardiology News

Disease Profile

Mucolipidosis III alpha/beta

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems. Many individuals with ML III develop low bone density (osteoporosis), which causes pain and may lead to bone fractures.[1] Heart deformities and repeated respiratory infections can reduce the individual’s ability to breathe effectively and may result in death during mid-adulthood. ML III is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. Mucolipidosis III is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing.[2] Treatment is focused on relieving the individual symptoms of each person. 

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
Short stature
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 palate
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
Autosomal recessive inheritance
0000007
Broad ribs
Wide ribs
0000885
Carpal bone hypoplasia
Small carpal bones
Small carpals

[ more ]

0001498
Constrictive median neuropathy
0012185
Craniosynostosis
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
Intellectual disability
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
Scoliosis
0002650
Shallow acetabular fossae
0003182
Short long bone
Long bone shortening
0003026
Short ribs
0000773
Soft tissue swelling of interphalangeal joints
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

        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

          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

            1. Mucolipidosis III alpha/beta. Genetics Home Reference; October 2014; https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta#genes.
            2. 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/.