Rare Endocrinology News

Disease Profile

I cell disease

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

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)

Mucolipidosis 2; ML 2; ICD;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases

Summary

Mucolipidosis II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids).[1] Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers.[2] ML II can also cause heart valve abnormalities and repeated respiratory infections. This reduces the individual’s ability to breathe effectively and typically results in death by early adolescence. ML II is caused by mutation in the GNPTAB gene, and is inherited in an autosomal recessive manner. ML II is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing.[3] Treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising.[4]

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
Coarse facial features
Coarse facial appearance
0000280
Expressive language delay
0002474
Gingival overgrowth
Gum enlargement
0000212
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Motor delay
0001270
Postnatal growth retardation
Growth delay as children
0008897
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Restricted chest movement
0006596
Short stature
Decreased body height
Small stature

[ more ]

0004322
Thickened skin
Thick skin
0001072
Umbilical hernia
0001537
30%-79% of people have these symptoms
Abnormal mitral valve morphology
0001633
Abnormality of the thoracic cavity
0045027
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Craniosynostosis
0001363
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Flat face
Flat facial shape
0012368
Inability to walk
0002540
Mitral regurgitation
0001653
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Obstructive sleep apnea
0002870
Otitis media
Middle ear infection
0000388
Poor speech
0002465
Pulmonary insufficiency
0010444
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
5%-29% of people have these symptoms
Abnormal aortic valve morphology
0001646
Abnormality of long bone morphology
Abnormal shape of long bone
0011314
Aortic regurgitation
0001659
Appendicular hypotonia
0012389
Cardiomyopathy
Disease of the heart muscle
0001638
Decreased movement range in interphalangeal joints
Decreased range of movement range in hinge joints
0006203
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Dry hair
0011359
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hip contracture
0003273
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Inguinal hernia
0000023
Knee flexion contracture
0006380
Kyphosis
Hunched back
Round back

[ more ]

0002808
Left ventricular hypertrophy
0001712
Limited shoulder movement
0006467
Limited wrist movement
Limited movement of the wrist
0006248
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Oligohydramnios
Low levels of amniotic fluid
0001562
Patent foramen ovale
0001655
Prominent metopic ridge
0005487
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets

[ more ]

0000586
Stridor
0010307
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Telangiectases of the cheeks
0007421
Weight loss
0001824
White hair
0011364
1%-4% of people have these symptoms
Gastrostomy tube feeding in infancy
0011471
Respiratory failure requiring assisted ventilation
0004887
Sensorineural hearing impairment
0000407
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more

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.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • 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 I cell disease. Click on the link to view a sample search on this topic.

            References

            1. I Cell Disease. National Organization for Rare Disorders; 2007; https://rarediseases.org/rare-diseases/i-cell-disease/.
            2. Mucolipidosis II alpha/beta. Genetics Home Reference; May 2015; https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta.
            3. Jules G Leroy, MD, PhD, Sara Cathey, MD, FACMG, and Michael J Friez, PhD. Mucolipidosis II. GeneReviews; May 10, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1828/.
            4. Ah-Ra Ko, Dong-Kyu Jin, Sung Yoon Cho, Sung Won Park, Malgorzata Przybylska, Nelson S. Yew, Seng H. Cheng, Jung-Sun Kim, Min Jung Kwak, Su Jin Kim, Young Bae Sohn. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II. Molecular Genetics and Metabolism. April 2016; 117(4):447-455. https://www.ncbi.nlm.nih.gov/pubmed/26857995.

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