I cell disease

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Disease Profile

I cell disease

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

E77.0

Inheritance

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Mucolipidosis 2; ML 2; ICD;

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.

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.

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/

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.

References

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

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Rare Pulmonology News

Neonatal

E77.0

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Treatment

Management Guidelines

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

Rare Pulmonology News

Rare Pulmonology News

Neonatal

E77.0

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Treatment

Management Guidelines

Related diseases

Organizations

Organizations Supporting this Disease

Learn more

Where to Start

In-Depth Information

References

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.

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