Niemann-Pick disease type C

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.



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Total: 93 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(28.5%)		 25536905
 Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.
Benussi A, Alberici A, Premi E, Bertasi V, Cotelli MS, Turla M, Dardis A, Zampieri S, Marchina E, Paghera B, Gallivanone F, Castiglioni I, Padovani A, Borroni B.
J Neurol. 2015;262(3):642-7.
Dysarthria Ankle clonus
c|SUB|C|2662|T p|SUB|P|888|S
Brain DNA Mutational Analysis Females Homo sapiens Magnetic Resonance Imaging Male Niemann-Pick Disease, Type C Phenotype Positron-Emission Tomography Young Adult
2
(24.9%)		 29928259
(5997782)
 First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.
Ples L, Sima RM, Nedelea F, Moga M.
Front Endocrinol (Lausanne). 2018;9:292.
Cystic hygroma
NPC2
c|SUB|G|441+1|A;RS#:140130028
3
(21.2%)		 11590212
 Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C.
Alvelius G, Hjalmarson O, Griffiths WJ, Bjorkhem I, Sjovall J.
J Lipid Res. 2001;42(10):1571-7.
Hypotonia Rickets
C3 C7
Bile Acids and Salts Child, Preschool Gas Chromatography-Mass Spectrometry Homo sapiens Infant Liver Male Niemann-Pick Diseases Spectrometry, Mass, Electrospray Ionization
3
(21.2%)		 9584266
 Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
Sequeira JS, Vellodi A, Vanier MT, Clayton PT.
J Inherit Metab Dis. 1998;21(2):149-54.
Motor delay Rickets
rs121917816
Bile Acids and Salts Fatty Acids Homo sapiens Infant Male Niemann-Pick Diseases Oxidation-Reduction
5
(17.5%)		 30119649
(6098631)
 Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y.
BMC Neurol. 2018;18(1):117.
Vertical supranuclear gaze palsy Frequent falls
NPC1
c|INS|160_161|G c|SUB|C|1421|T;RS#:372445155 c|SUB|C|3011|T;RS#:150334966 c|SUB|T|3722|C p|FS|D|54|G|4 p|SUB|L|1241|S p|SUB|P|474|L;RS#:372445155 p|SUB|S|1004|L;RS#:150334966
Adult Biological Variation, Population Carrier Proteins Females Homo sapiens Intracellular Signaling Peptides and Proteins Male Membrane Glycoproteins Niemann-Pick C1 Protein Niemann-Pick Disease, Type C Schizophrenia
5
(17.5%)		 29536386
 Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
Tozza S, Dubbioso R, Iodice R, Topa A, Esposito M, Ruggiero L, Spina E, De Rosa A, Sacca F, Santoro L, Manganelli F.
Neurol Sci. 2018;39(6):1015-1019.
Spasticity
1-Deoxynojirimycin Adult Enzyme Inhibitors Females Homo sapiens Niemann-Pick Disease, Type C Sibling
5
(17.5%)		 27900365
(5111003)
 Genome sequencing in a case of Niemann-Pick type C.
Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA.
Cold Spring Harb Mol Case Stud. 2016;2(6):a001222.
Dementia Spasticity
NPC1 NPC2
p|SUB|N|1156|S;RS#:28942105 p|SUB|V|950|M;RS#:120074135 rs120074135 rs28942105
Base Sequence Brain Carrier Proteins Dementia Homo sapiens Intracellular Signaling Peptides and Proteins Male Membrane Glycoproteins Missense Mutation Mutation Neurodegenerative Disorders Niemann-Pick C1 Protein Niemann-Pick Disease, Type C Niemann-Pick Diseases Whole Genome Sequencing
5
(17.5%)		 23711246
 Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
Chiba Y, Komori H, Takei S, Hasegawa-Ishii S, Kawamura N, Adachi K, Nanba E, Hosokawa M, Enokido Y, Kouchi Z, Yoshida F, Shimada A.
Neuropathology. 2014;34(1):49-57.
Supranuclear ophthalmoplegia Bulbar palsy
NPC1 NPC2
c|SUB|A|1017|T p|SUB|Y|1088|C;RS#:28942106
Adult Brain Stem Carrier Proteins Homo sapiens Intracellular Signaling Peptides and Proteins Lewy Bodies Male Membrane Glycoproteins Mutation Niemann-Pick C1 Protein Niemann-Pick Disease, Type C Temporal Lobe
5
(17.5%)		 18937049
 Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.
Santos ML, Raskin S, Telles DS, Lohr A Jr, Liberalesso PB, Vieira SC, Cordeiro ML.
J Inherit Metab Dis. 2008;31 Suppl 2:S357-61.
Ptosis Difficulty walking
1-Deoxynojirimycin Brazil Child Child Behavior Child Development Disability Evaluation Enzyme Inhibitors Females Glucosyltransferases Homo sapiens Magnetic Resonance Imaging Niemann-Pick Disease, Type C Recovery of Function Severity of Illness Index Time Factors
5
(17.5%)		 9489503
 Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.
Campo JV, Stowe R, Slomka G, Byler D, Gracious B.
Dev Med Child Neurol. 1998;40(2):126-9.
Psychosis Hypertonia
Cognition Disorders Delusions Differential Diagnosis Homo sapiens Male Neuropsychological Tests Niemann-Pick Diseases Psychomotor Disorders Psychotic Disorders
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000952 Jaundice Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001332 Dystonia Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001618 Dysphonia Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0001541 Ascites Occasional (29-5%)
HP:0002072 Chorea Occasional (29-5%)
HP:0007256 Abnormal pyramidal sign Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 31

HPO ID Term # of case reports
HP:0001250 Seizures 8
HP:0002524 Cataplexy 8
HP:0001744 Splenomegaly 6
HP:0001433 Hepatosplenomegaly 5
HP:0000709 Psychosis 4
HP:0001251 Ataxia 4
HP:0001396 Cholestasis 4
HP:0003651 Foam cells 4
HP:0001336 Myoclonus 3
HP:0003271 Visceromegaly 3
HP:0000511 Vertical supranuclear gaze palsy 2
HP:0000623 Supranuclear ophthalmoplegia 2
HP:0000726 Dementia 2
HP:0001257 Spasticity 2
HP:0001332 Dystonia 2
HP:0006579 Prolonged neonatal jaundice 2
HP:0012115 Hepatitis 2
HP:0000597 Ophthalmoparesis 1
HP:0000602 Ophthalmoplegia 1
HP:0000952 Jaundice 1
HP:0001268 Mental deterioration 1
HP:0001541 Ascites 1
HP:0001791 Fetal ascites 1
HP:0002072 Chorea 1
HP:0002185 Neurofibrillary tangles 1
HP:0002371 Loss of speech 1
HP:0002716 Lymphadenopathy 1
HP:0040148 Cortical myoclonus 1
HP:0100543 Cognitive impairment 1
HP:0100753 Schizophrenia 1
HP:0200026 Ocular pain 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID