Rare Endocrinology News

Disease Profile

Mucolipidosis type 4

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

Infancy

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ICD-10

E75.1

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)

ML 4; Berman syndrome; Ganglioside neuraminidase deficiency;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]

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
Abnormality of mucopolysaccharide metabolism
0011020
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles

[ more ]

0010318
Corneal opacity
0007957
Developmental stagnation
0007281
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Ganglioside accumulation
0004345
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Retinopathy
Noninflammatory retina disease
0000488
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
30%-79% of people have these symptoms
Ataxia
0001251
EEG abnormality
0002353
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
5%-29% of people have these symptoms
Abnormal electroretinogram
0000512
Abnormal nasal morphology
Abnormal of nasal shape
Abnormal of shape of nose

[ more ]

0005105
Abnormality of retinal pigmentation
0007703
Biparietal narrowing
0004422
Coarse facial features
Coarse facial appearance
0000280
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microdontia
Decreased width of tooth
0000691
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Percent of people who have these symptoms is not available through HPO
Abnormal abdomen morphology
Abnormality of abdomen structure
0001438
Achlorhydria
0032448
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral dysmyelination
0007266
Decreased lightand dark-adapted electroretinogram amplitude
0000654
Dysplastic corpus callosum
0006989
Dystonia
0001332
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Global developmental delay
0001263
Hypergastrinemia
Elevated gastrin in the blood
Increased blood gastrin

[ more ]

0500167
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Opacification of the corneal stroma
0007759
Optic atrophy
0000648
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Retinal degeneration
Retina degeneration
0000546
Spastic tetraplegia
0002510
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505

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

      Organizations Providing General Support

        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 type 4. Click on the link to view a sample search on this topic.

            References

            1. Mucolipidosis type IV. Genetics Home Reference. August 2013; https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv.
            2. Raphael Schiffmann, MD, MHSc, Yulia Grishchuk, PhD, and Ehud Goldin, PhD. Mucolipidosis IV. GeneReviews. July 2015; https://www.ncbi.nlm.nih.gov/books/NBK1214/.
            3. Mucolipidoses Fact Sheet. National Institute of Neurological Disorders and Stroke. June 2015; https://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm.