Rare Rheumatology News

Disease Profile

Niemann-Pick disease type C1

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

#N/A

ICD-10

#N/A

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)

Niemann-Pick disease, type C; NPC1; Niemann-Pick disease with cholesterol esterification block;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 646

Definition
Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.

Visit the Orphanet disease page for more resources.

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
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hepatomegaly
Enlarged liver
0002240
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Low cholesterol esterification rate
0003349
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Vertical supranuclear gaze palsy
0000511
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles

[ more ]

0010318
Axial dystonia
0002530
Bone-marrow foam cells
0004333
Dysarthria
Difficulty articulating speech
0001260
Dysphonia
Inability to produce voice sounds
0001618
Foam cells
0003651
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Limb dystonia
0002451
Progressive gait ataxia
0007240
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Abnormal pyramidal sign
0007256
Abnormal social behavior
Abnormal social behaviour
0012433
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Apathy
Lack of feeling, emotion, interest
0000741
Auditory hallucinations
Hallucinations of sound
Hearing sounds

[ more ]

0008765
Cataplexy
0002524
Central hypotonia
0011398
Cerebellar vermis atrophy
0006855
Chorea
0002072
Clumsiness
0002312
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Depressivity
Depression
0000716
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Disinhibition
0000734
Focal-onset seizure
Seizure affecting one half of brain
0007359
Frequent falls
0002359
Gastrostomy tube feeding in infancy
0011471
Generalized-onset seizure
0002197
Global developmental delay
0001263
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Intention tremor
0002080
Leukodystrophy
0002415
Low frustration tolerance
0000744
Lower limb spasticity
0002061
Muscular hypotonia
Low or weak muscle tone
0001252
Myoclonus
0001336
Narcolepsy
0030050
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Psychosis
0000709
Schizophrenia
0100753
Specific learning disability
0001328
Speech apraxia
0011098
Visual hallucinations
0002367
1%-4% of people have these symptoms
Aspiration pneumonia
0011951
Bipolar affective disorder
Bipolar disorder
0007302
Demyelinating peripheral neuropathy
0007108
Fetal ascites
0001791
Frontal cortical atrophy
0006913
Hepatic failure
Liver failure
0001399
Hydrops fetalis
0001789
Pulmonary infiltrates
Lung infiltrates
0002113
Respiratory failure
0002878
Seizure

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

      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 Niemann-Pick disease type C1. Click on the link to view a sample search on this topic.

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