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Disease Profile
Niemann-Pick disease type C1
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.
#N/A
Age of onset
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ICD-10
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Inheritance
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.
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.
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)
Niemann-Pick disease, type C; NPC1; Niemann-Pick disease with cholesterol esterification block;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Orpha Number: 646
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 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
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 |
0002530 | |
Bone-marrow foam |
0004333 | |
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 |
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 |
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, progressive
Progressive dementia
[ more ] |
0000726 | |
Depressivity |
Depression
|
0000716 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Disinhibition | 0000734 | |
Focal-onset |
Seizure affecting one half of brain
|
0007359 |
Frequent falls | 0002359 | |
Gastrostomy tube feeding in infancy | 0011471 | |
Generalized-onset seizure | 0002197 | |
Global |
0001263 | |
Enlarged liver and spleen
|
0001433 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intention tremor | 0002080 | |
Leukodystrophy | 0002415 | |
Low frustration tolerance | 0000744 | |
Lower limb |
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 |
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 |
DiagnosisMaking 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
OrganizationsSupport 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 moreThese 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
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