National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

I cell disease


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:
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

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
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Last updated: 7/1/2020

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.

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.

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

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 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.

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

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

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.

News

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.

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.

  1. I Cell Disease. National Organization for Rare Disorders; 2007; http://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; http://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. http://www.ncbi.nlm.nih.gov/pubmed/26857995.