I cell disease

Title

Other Names:

Mucolipidosis 2; ML 2; ICD; Mucolipidosis 2; ML 2; ICD; GNPTA; Inclusion cell disease; Leroy Disease; N-acetylglucosamine 1phosphotransferase deficiency; ML disorder type 2 See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases

Summary 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]

Last updated: 7/19/2016

Symptoms 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.

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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
Abnormality of the rib cage		0001547
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Atlantoaxial dislocation		0003414
Autosomal recessive inheritance		0000007
Beaking of vertebral bodies T12-L3		0004562
Bullet-shaped phalanges of the hand	Bullet-shaped hand bones	0009769
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Carpal bone hypoplasia	Small carpal bones Small carpals [ more ]	0001498
Cavernous hemangioma	Collection of dilated blood vessels that forms mass	0001048
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Death in childhood		0003819
Deficiency of N-acetylglucosamine-1-phosphotransferase		0003264
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Flared iliac wings		0002869
Flat acetabular roof		0003180
Global developmental delay		0001263
Heart murmur	Heart murmurs	0030148
Hepatomegaly	Enlarged liver	0002240
High forehead		0000348
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Hypoplasia of the odontoid process		0003311
Hypoplastic scapulae	Small shoulder blade	0000882
Increased serum beta-hexosaminidase		0003333
Increased serum iduronate sulfatase level		0003538
Large sella turcica	Big sella turcica	0002690
Long philtrum		0000343
Lower thoracic interpediculate narrowness		0008470
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Megalocornea	Enlarged cornea	0000485
Metaphyseal widening	Broad wide portion of long bone	0003016
Mucopolysacchariduria		0008155
Myelopathy		0002196
Narrow forehead	Decreased width of the forehead	0000341
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Opacification of the corneal stroma		0007759
Osteopenia		0000938
Ovoid vertebral bodies		0003300
Palpebral edema	Fullness of eyelids Puffy eyelids Puffy lids Swelling of eyelids [ more ]	0100540
Pathologic fracture	Spontaneous fracture	0002756
Progressive alveolar ridge hypertropy	Increasing size of gum ridge	0009092
Recurrent bronchitis		0002837
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent pneumonia		0006532
Severe global developmental delay		0011344
Severe postnatal growth retardation	Marked growth retardation Severe growth delay in children Severe postnatal growth failure [ more ]	0008850
Short long bone	Long bone shortening	0003026
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Split hand	Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ]	0001171
Thickened calvaria	Increased thickness of skull cap Thickened skull cap [ more ]	0002684
Thoracolumbar kyphoscoliosis		0003423
Varus deformity of humeral neck		0006362
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610

Showing of 112 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Hurler syndrome; GM1 gangliosidosis type 1; the infantile form of galactosialidosis; sialidosis type 2; free sialic acid storage disease, infantile form; hypocalcemic rickets; and ML III. Pacman dysplasia (see these terms) is in many instances the prenatal expression of ML II. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to I cell disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations 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: info@mpssociety.org
Website: https://mpssociety.org/
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: info@ismrd.org
Website: https://www.ismrd.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

Other Conferences

2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
Location: Crowne Plaza Hotel, Charleston, SC
Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

I Cell Disease. National Organization for Rare Disorders; 2007; http://rarediseases.org/rare-diseases/i-cell-disease/.
Mucolipidosis II alpha/beta. Genetics Home Reference; May 2015; https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta.
Jules G Leroy, MD, PhD, Sara Cathey, MD, FACMG, and Michael J Friez, PhD. Mucolipidosis II. GeneReviews; May 10, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1828/.
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. http://www.ncbi.nlm.nih.gov/pubmed/26857995.