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Prevalence (%) of clinical parameters based on data from 3 references describing 207 individuals
Foam cells
Sea-blue histiocytes
Clumsiness
Cognitive deficits
Ataxia
Vertical gaze palsy
Dysphagia
Dysarthria
Cerebral atrophy
Cataplexy
Jaundice
Respiratory failure
Seizures
Cerebellar atrophy
Sleep disturbances
Splenomegaly
Hepatomegaly
Psychiatric symptom
Corpus callosum thining
Ascites
Hearing loss
Hypotonia
Vertigo
Tinitus
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