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Prevalence (%) of clinical parameters based on data from 3 references describing 207 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Sea-blue histiocytes | circulatory | 100 % | 7924073 | 2020-01-24 | |
| Foam cells | circulatory | 100 % | 7924073 | 2020-01-24 | |
| Cognitive deficits | nervous | 87 % | 17497724 | 2020-01-24 | |
| Clumsiness | nervous | 87 % | 17497724 | 2020-01-24 | |
| Ataxia | nervous | 83 % | 17497724 | 2020-01-24 | |
| Vertical gaze palsy | nervous | 81 % | 17497724 | 2020-01-24 | |
| Dysphagia | nervous | 80 % | 17497724 | 2020-01-24 | |
| Dysarthria | nervous | 70 % | 17497724 | 2020-01-24 | |
| Cerebral atrophy | nervous | 60 % | 17003072 | 2020-01-24 | |
| Jaundice | digestive | 52 % | 17497724 | 2020-01-24 | |
| Cataplexy | nervous | 52 % | 17497724 | 2020-01-24 | |
| Respiratory failure | respiratory | 52 % | 17497724 | 2020-01-24 | |
| Seizures | nervous | 52 % | 17497724 | 2020-01-24 | |
| Cerebellar atrophy | nervous | 50 % | 17003072 | 2020-01-24 | |
| Sleep disturbances | nervous | 42 % | 17497724 | 2020-01-24 | |
| Splenomegaly | circulatory | 36 % | 17497724 | 2020-01-24 | |
| Hepatomegaly | digestive | 31 % | 17497724 | 2020-01-24 | |
| Psychiatric symptom | nervous | 28 % | 17497724 | 2020-01-24 | |
| Corpus callosum thining | nervous | 20 % | 17003072 | 2020-01-24 | |
| Ascites | digestive | 19 % | 17497724 | 2020-01-24 | |
| Hearing loss | nervous | 15 % | 17497724 | 2020-01-24 | |
| Hypotonia | nervous | 6 % | 17497724 | 2020-01-24 | |
| Vertigo | nervous | 6 % | 17497724 | 2020-01-24 | |
| Tinitus | nervous | 1 % | 17497724 | 2020-01-24 |
List of references:
Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.
C J van de Vlasakker, F J Gabreëls, H C Wijburg, R A Wevers,
Clinical neurology and neurosurgery - May 1994
The National Niemann-Pick C1 disease database: report of clinical features and health problems.
William S Garver, Gordon A Francis, David Jelinek, Glen Shepherd, James Flynn, Graciela Castro, Cate Walsh Vockley, Donald L Coppock, Kathleen M Pettit, Randy A Heidenreich, F John Meaney,
American journal of medical genetics. Part A - Jun 2007
The adult form of Niemann-Pick disease type C.
Mathieu Sévin, Gaëtan Lesca, Nicole Baumann, Gilles Millat, Olivier Lyon-Caen, Marie T Vanier, Frédéric Sedel,
Brain : a journal of neurology - Jan 2007