NIEMANN-PICK DISEASE, TYPE C2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 38
OrphanetNr:
OMIM Id: 607625
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000511) Vertical supranuclear gaze palsy 4 / 7739
2
(HPO:0000709) Psychosis 61 / 7739
3
(HPO:0001270) Motor delay 322 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0002311) Incoordination 84 / 7739
6
(HPO:0000708) Behavioral abnormality 212 / 7739
7
(HPO:0002066) Gait ataxia 327 / 7739
8
(HPO:0000726) Dementia 131 / 7739
9
(HPO:0001250) Seizures 1245 / 7739
10
(HPO:0000733) Stereotypy 58 / 7739
11
(HPO:0001332) Dystonia 197 / 7739
12
(HPO:0002015) Dysphagia 301 / 7739
13
(HPO:0001260) Dysarthria 329 / 7739
14
(HPO:0002371) Loss of speech 15 / 7739
15
(HPO:0001251) Ataxia 413 / 7739
16
(HPO:0001249) Intellectual disability 1089 / 7739
17
(HPO:0002524) Cataplexy 8 / 7739
18
(HPO:0001257) Spasticity 251 / 7739
19
(HPO:0001268) Mental deterioration 88 / 7739
20
(HPO:0001791) Fetal ascites 4 / 7739
21
(HPO:0002240) Hepatomegaly 467 / 7739
22
(HPO:0001744) Splenomegaly 337 / 7739
23
(HPO:0006579) Prolonged neonatal jaundice 25 / 7739
24
(HPO:0003640) Foam cells in visceral organs and CNS 2 / 7739
25
(HPO:0001982) Sea-blue histiocytosis 7 / 7739
26
(HPO:0004333) Bone-marrow foam cells 11 / 7739
27
(HPO:0003349) Low cholesterol esterification rates 4 / 7739
28
(HPO:0003464) Abnormal cholesterol homeostasis 2 / 7739
29
(HPO:0002093) Respiratory insufficiency 410 / 7739
30
(HPO:0001324) Muscle weakness 859 / 7739
31
(HPO:0001252) Muscular hypotonia 990 / 7739
32
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
(HPO:0010547) Muscle flaccidity 466 / 7739
34
(OMIM) Foam cells on bone marrow biopsy 2 / 7739
35
(HPO:0002185) Neurofibrillary tangles 14 / 7739
36
(OMIM) Pulmonary involvement, severe 1 / 7739
37
(OMIM) Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy 2 / 7739
38
(OMIM) Normal or mildly reduced sphingomyelinase activity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; 257200), the visceral form (type B; 607616), the subacute or juvenile form (type C), and the Nova Scotian variant (type D; see 257220). Since ...
Clinical Description OMIM Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder that affects the viscera and central nervous system. The fatal damage in NPC disease is neurodegeneration starting from early life. NPC has a highly variable clinical ...
Molecular genetics OMIM In 2 patients with NPC2, Naureckiene et al. (2000) identified mutations in the HE1 (NPC2) gene (601015.0001-601015.0002).

In 6 unrelated patients with NPC2, Verot et al. (2007) identified 5 different mutations in the NPC2 gene (see, ...