NPDB
MCID: NMN016
MIFTS: 59

Niemann-Pick Disease, Type B (NPDB)

Categories: Eye diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Niemann-Pick Disease, Type B

MalaCards integrated aliases for Niemann-Pick Disease, Type B:

Name: Niemann-Pick Disease, Type B 58 30 13 6 45 41 74
Niemann-Pick Disease Type B 12 54 60 15
Niemann-Pick Disease Type E 60 76
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 76
Niemann-Pick Disease Adult Non-Neuronopathic Form 76
Niemann-Pick Disease Visceral Form 76
Niemann-Pick Disease, Type a 74
Niemann-Picks Disease Type B 56
Niemann-Pick Disease, Type E 74
Sphingomyelinase Deficiency 76
Niemann Pick Disease Type B 54
Niemann-Pick Disease Type I 76
Niemann-Pick Disease Type F 76
Sphingomyelin Lipidosis 76
Niemann-Pick Disease B 76
Niemann-Pick Diseases 74
Npdb 76
Npb 76

Characteristics:

Orphanet epidemiological data:

60
niemann-pick disease type b
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy or childhood
more common in ashkenazi jews
allelic disorder to niemann-pick disease type a


HPO:

33
niemann-pick disease, type b:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070112
OMIM 58 607616
MeSH 45 D052537
ICD10 34 E75.2
MESH via Orphanet 46 D052537
ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C0268243 C0268248

Summaries for Niemann-Pick Disease, Type B

NIH Rare Diseases : 54 Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly), short stature, problems with lung function including frequent lung infections, and a low number of platelets in the blood (thrombocytopenia). Niemann-Pick disease type B is caused by changes (mutations or variants) in the SMPD1 gene. It is inherited in an autosomal recessive fashion. Treatment is aimed at addressing the symptoms present in each individual. Bone marrow transplantation has been attempted in a few individuals. Researchers are working to develop additional options for treatment, including enzyme replacement and gene therapy.

MalaCards based summary : Niemann-Pick Disease, Type B, also known as niemann-pick disease type b, is related to niemann-pick disease, type a and niemann-pick disease, type c1, and has symptoms including muscle weakness, constipation and vomiting. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Lipoprotein metabolism and Ca, cAMP and Lipid Signaling. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are splenomegaly and recurrent respiratory infections

Disease Ontology : 12 A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has material basis in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4.

OMIM : 58 Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007). Schuchman (2007) provided a detailed review of Niemann-Pick disease type B, including clinical management. (607616)

UniProtKB/Swiss-Prot : 76 Niemann-Pick disease B: A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.

Related Diseases for Niemann-Pick Disease, Type B

Diseases in the Niemann-Pick Disease family:

Niemann-Pick Disease, Type a Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type B Niemann-Pick Disease, Type C2

Diseases related to Niemann-Pick Disease, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type a 32.4 CHIT1 NPC1 NPC2 SMPD1
2 niemann-pick disease, type c1 31.8 ABCA1 NPC1 NPC2 SMPD1
3 niemann-pick disease 31.6 CHIT1 NPC1 NPC2 SMPD1
4 acid sphingomyelinase deficiency 31.3 NPC1 SMPD1
5 sea-blue histiocyte disease 30.9 LCAT SMPD1
6 body mass index quantitative trait locus 11 11.3
7 histiocytosis 10.4
8 hematopoietic stem cell transplantation 10.3
9 niemann-pick disease type c, severe perinatal form 10.3 NPC1 NPC2
10 niemann-pick disease type c, late infantile neurologic onset 10.3 NPC1 NPC2
11 niemann-pick disease type c, severe early infantile neurologic onset 10.3 NPC1 NPC2
12 niemann-pick disease type c, adult neurologic onset 10.3 NPC1 NPC2
13 niemann-pick disease type c, juvenile neurologic onset 10.3 NPC1 NPC2
14 apo a-i deficiency 10.2 APOA1 LCAT
15 familial lcat deficiency 10.2 APOA1 LCAT
16 arteries, anomalies of 10.2
17 emphysema, congenital lobar 10.2
18 myositis 10.2
19 infantile liver failure syndrome 1 10.2
20 coronary artery anomaly 10.2
21 thrombocytopenia 10.2
22 pulmonary alveolar proteinosis 10.2
23 interstitial lung disease 10.2
24 myositis ossificans 10.2
25 lung disease 10.2
26 lichen nitidus 10.2
27 fish-eye disease 10.2 APOA1 LCAT
28 amyloidosis aa 10.2 APOA1 LCAT
29 niemann-pick disease, type c2 10.1 NPC1 NPC2 SMPD1
30 sphingolipidosis 10.1 NPC1 NPC2 SMPD1
31 fetal macrosomia 10.1 APOA1 LCAT
32 lipid storage disease 10.1 NPC1 NPC2 SMPD1
33 hypolipoproteinemia 10.0 ABCA1 APOA1 LCAT
34 vitamin e, familial isolated deficiency of 10.0 ABCA1 APOA1
35 primary biliary cholangitis 10.0 ABCA1 VDR
36 arcus corneae 10.0 APOA1 LCAT
37 hypoalphalipoproteinemia, primary 10.0 ABCA1 APOA1 LCAT
38 hyperalphalipoproteinemia 1 10.0 ABCA1 APOA1 LCAT
39 lipid metabolism disorder 9.9 ABCA1 APOA1 LCAT
40 coronary heart disease 1 9.9 ABCA1 APOA1 LCAT
41 hypercholesterolemia, familial 9.9 ABCA1 APOA1 LCAT
42 glycine n-methyltransferase deficiency 9.9 NPC1 NPC2
43 atherosclerosis susceptibility 9.9
44 beckwith-wiedemann syndrome 9.9
45 thrombocytopenic purpura, autoimmune 9.9
46 graft-versus-host disease 9.9
47 brain injury 9.9
48 lysosomal storage disease 9.9
49 purpura 9.9
50 hyperglycemia 9.9

Graphical network of the top 20 diseases related to Niemann-Pick Disease, Type B:



Diseases related to Niemann-Pick Disease, Type B

Symptoms & Phenotypes for Niemann-Pick Disease, Type B

Human phenotypes related to Niemann-Pick Disease, Type B:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 recurrent respiratory infections 33 HP:0002205
3 hepatomegaly 33 HP:0002240
4 short stature 33 HP:0004322
5 dyspnea 33 HP:0002094
6 hypertriglyceridemia 33 HP:0002155
7 diffuse reticular or finely nodular infiltrations 33 HP:0002207
8 sea-blue histiocytosis 33 HP:0001982
9 bone-marrow foam cells 33 HP:0004333
10 decreased hdl cholesterol concentration 33 HP:0003233
11 increased ldl cholesterol concentration 33 HP:0003141
12 foam cells with lamellar inclusion bodies 33 HP:0003609
13 abnormal macular morphology 33 HP:0001103

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Respiratory Lung:
dyspnea
diffuse reticular or finely nodular infiltrations
frequent respiratory infections
decreased pulmonary diffusion secondary to alveolar infiltration

Growth Height:
short stature (less common)

Head And Neck Eyes:
cherry-red maculae (less common)

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
decreased hdl cholesterol
electron microscopy of foam cells shows lamellar inclusions
increased triglycerides
decreased acid sphingomyelinase activity
multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes
more
Hematology:
large vacuolated foam cells ('np cells') on bone marrow biopsy
'sea blue' histiocytes
decreased platelets

Neurologic Central Nervous System:
absence of neurologic manifestations

Clinical features from OMIM:

607616

UMLS symptoms related to Niemann-Pick Disease, Type B:


muscle weakness, constipation, vomiting, dyspnea

GenomeRNAi Phenotypes related to Niemann-Pick Disease, Type B according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 ABCA1 APOA1 NPC1

MGI Mouse Phenotypes related to Niemann-Pick Disease, Type B:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ABCA1 APOA1 NPC1 NPC2 PITX3 SMPD1
2 cardiovascular system MP:0005385 9.95 ABCA1 APOA1 LCAT NPC1 NPC2 PITX3
3 endocrine/exocrine gland MP:0005379 9.87 ABCA1 APOA1 LCAT NPC1 NPC2 PITX3
4 hematopoietic system MP:0005397 9.86 ABCA1 LCAT NPC1 NPC2 PITX3 SMPD1
5 homeostasis/metabolism MP:0005376 9.81 ABCA1 APOA1 LCAT NPC1 NPC2 PITX3
6 immune system MP:0005387 9.56 ABCA1 CHIT1 NPC1 NPC2 PITX3 SMPD1
7 liver/biliary system MP:0005370 9.23 ABCA1 APOA1 LCAT NPC1 NPC2 PITX3

Drugs & Therapeutics for Niemann-Pick Disease, Type B

Drugs for Niemann-Pick Disease, Type B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
4 Antineoplastic Agents, Immunological Phase 2
5 Alkylating Agents Phase 2
6 Immunosuppressive Agents Phase 2
7 Immunologic Factors Phase 2
8 Antirheumatic Agents Phase 2
9 Antineoplastic Agents, Alkylating Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan

Search NIH Clinical Center for Niemann-Pick Disease, Type B

Cochrane evidence based reviews: niemann-pick disease, type b

Genetic Tests for Niemann-Pick Disease, Type B

Genetic tests related to Niemann-Pick Disease, Type B:

# Genetic test Affiliating Genes
1 Niemann-Pick Disease, Type B 30 SMPD1

Anatomical Context for Niemann-Pick Disease, Type B

MalaCards organs/tissues related to Niemann-Pick Disease, Type B:

42
Bone, Bone Marrow, Liver, Lung, Spleen, Brain, Kidney

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 62)
# Title Authors Year
1
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. ( 30795770 )
2019
2
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. ( 30846233 )
2019
3
The Effects of Liver Transplantation in Children with Niemann-Pick Disease Type B. ( 30912297 )
2019
4
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
5
Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts. ( 30025906 )
2018
6
Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B. ( 30050708 )
2018
7
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
8
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2017
9
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement. ( 29340494 )
2017
10
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
11
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. ( 27198631 )
2016
12
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
13
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B. ( 29485843 )
2016
14
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. ( 25920558 )
2015
15
Adult Niemann-Pick disease type B with myositis ossificans: a case report. ( 26338042 )
2015
16
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). ( 25834946 )
2015
17
Two siblings with hepatosplenomegaly and pulmonary reticulation. Niemann-Pick disease type B. ( 26582814 )
2015
18
A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic. ( 24643943 )
2014
19
Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. ( 23415435 )
2013
20
Generalized lichen nitidus in a boy with Niemann-Pick disease type B. ( 24474110 )
2013
21
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. ( 22718274 )
2013
22
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
23
Lung affectation in an adult patient with Niemann-Pick disease, type B. ( 22075404 )
2012
24
Adult-onset pulmonary involvement in Niemann-Pick disease type B. ( 22462311 )
2011
25
Imaging manifestations of Niemann-Pick disease type B. ( 20028884 )
2010
26
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement. ( 20585986 )
2010
27
Niemann-Pick disease type B with severe coronary artery disease and early recurrence after coronary artery bypass grafting. ( 21291790 )
2009
28
Psychosocial aspects of patients with Niemann-Pick disease, type B. ( 19877061 )
2009
29
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 19864213 )
2009
30
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 30256875 )
2009
31
Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia. ( 19088546 )
2008
32
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. ( 18625664 )
2008
33
Clinical findings in Niemann-Pick disease type B. ( 16472269 )
2006
34
Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B. ( 16319418 )
2006
35
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. ( 16211396 )
2006
36
A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. ( 16163596 )
2005
37
ESI-MS quantitation of increased sphingomyelin in Niemann-Pick disease type B HDL. ( 15741650 )
2005
38
Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. ( 16199719 )
2005
39
Preimplantation genetic diagnosis for Niemann-Pick disease type B. ( 15612058 )
2004
40
Ocular manifestations of Niemann-Pick disease type B. ( 15234149 )
2004
41
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. ( 12694237 )
2003
42
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. ( 11932991 )
2002
43
Hepatic storage of glycogen in Niemann-Pick disease type B. ( 11391349 )
2001
44
Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B. ( 11524264 )
2001
45
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. ( 11732877 )
2001
46
Niemann-Pick disease type B in pregnancy. ( 9166354 )
1997
47
Asymptomatic pulmonary involvement in 2 children with Niemann-Pick disease type B. ( 8177975 )
1994
48
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. ( 8225311 )
1993
49
Fatal liver failure in two children with Niemann-Pick disease type B. ( 1919942 )
1991
50
Niemann-Pick disease type B with ocular involvement: report of a case. ( 1776442 )
1991

Variations for Niemann-Pick Disease, Type B

UniProtKB/Swiss-Prot genetic disease variations for Niemann-Pick Disease, Type B:

76 (show top 50) (show all 65)
# Symbol AA change Variation ID SNP ID
1 SMPD1 p.Gly244Arg VAR_005058 rs120074122
2 SMPD1 p.Glu248Gln VAR_005059 rs200763423
3 SMPD1 p.Met384Ile VAR_005061 rs120074121
4 SMPD1 p.Asn385Ser VAR_005062 rs120074123
5 SMPD1 p.Trp393Gly VAR_005064 rs120074125
6 SMPD1 p.Ser438Arg VAR_005065 rs267607073
7 SMPD1 p.Cys159Arg VAR_011387 rs727504166
8 SMPD1 p.Ser250Arg VAR_015287 rs750779804
9 SMPD1 p.Pro373Ser VAR_015289
10 SMPD1 p.His423Tyr VAR_015290 rs120074126
11 SMPD1 p.Pro477Leu VAR_015292 rs753508874
12 SMPD1 p.Cys94Trp VAR_060871
13 SMPD1 p.Leu105Pro VAR_060872 rs751269562
14 SMPD1 p.Val132Ala VAR_060873
15 SMPD1 p.Leu139Pro VAR_060874 rs797044797
16 SMPD1 p.Gly168Arg VAR_060875
17 SMPD1 p.Ile178Asn VAR_060876 rs749780769
18 SMPD1 p.Ala198Pro VAR_060878 rs797044798
19 SMPD1 p.Arg202Cys VAR_060879 rs749595299
20 SMPD1 p.Leu227Met VAR_060880
21 SMPD1 p.Leu227Pro VAR_060881 rs764317969
22 SMPD1 p.Arg230Cys VAR_060882 rs989639224
23 SMPD1 p.Gly234Asp VAR_060884
24 SMPD1 p.Trp246Cys VAR_060886
25 SMPD1 p.Gly247Ser VAR_060887 rs587779408
26 SMPD1 p.Ala283Thr VAR_060891 rs752148586
27 SMPD1 p.Pro325Ala VAR_060896 rs761308217
28 SMPD1 p.Pro332Arg VAR_060897 rs202081954
29 SMPD1 p.Ala359Asp VAR_060899 rs797044800
30 SMPD1 p.Arg378His VAR_060901 rs559088058
31 SMPD1 p.Arg378Leu VAR_060902
32 SMPD1 p.Ser381Pro VAR_060903
33 SMPD1 p.Ala415Val VAR_060905 rs145119979
34 SMPD1 p.Cys433Arg VAR_060907 rs779528546
35 SMPD1 p.Leu434Pro VAR_060908
36 SMPD1 p.Trp437Cys VAR_060909
37 SMPD1 p.Ala454Val VAR_060911 rs140273402
38 SMPD1 p.Gly458Asp VAR_060912
39 SMPD1 p.Arg476Trp VAR_060914 rs182812968
40 SMPD1 p.Phe482Leu VAR_060915
41 SMPD1 p.Thr488Ala VAR_060918
42 SMPD1 p.Tyr490Asn VAR_060919 rs398123477
43 SMPD1 p.Gly496Ser VAR_060920
44 SMPD1 p.Arg498Cys VAR_060921 rs769904764
45 SMPD1 p.His516Gln VAR_060924
46 SMPD1 p.Glu517Val VAR_060925 rs142787001
47 SMPD1 p.Trp535Arg VAR_060927
48 SMPD1 p.Leu551Pro VAR_060928
49 SMPD1 p.Asp565Tyr VAR_060929
50 SMPD1 p.Lys578Asn VAR_060930 rs747342458

ClinVar genetic disease variations for Niemann-Pick Disease, Type B:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
2 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
3 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727504166 GRCh37 Chromosome 11, 6412770: 6412770
4 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727504166 GRCh38 Chromosome 11, 6391540: 6391540
5 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh37 Chromosome 11, 6412649: 6412649
6 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh38 Chromosome 11, 6391419: 6391419
7 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh37 Chromosome 11, 6412868: 6412868
8 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh38 Chromosome 11, 6391638: 6391638
9 SMPD1 NM_000543.4(SMPD1): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs1803161 GRCh37 Chromosome 11, 6413167: 6413167
10 SMPD1 NM_000543.4(SMPD1): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs1803161 GRCh38 Chromosome 11, 6391937: 6391937
11 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs1554934241 GRCh37 Chromosome 11, 6412853: 6412854
12 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs1554934241 GRCh38 Chromosome 11, 6391623: 6391624
13 SMPD1 NM_000543.4(SMPD1): c.1340+7C> T single nucleotide variant Benign/Likely benign rs116480929 GRCh37 Chromosome 11, 6414930: 6414930
14 SMPD1 NM_000543.4(SMPD1): c.1340+7C> T single nucleotide variant Benign/Likely benign rs116480929 GRCh38 Chromosome 11, 6393700: 6393700
15 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
16 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh38 Chromosome 11, 6394540: 6394542
17 SMPD1 NM_000543.4(SMPD1): c.1492C> T (p.Arg498Cys) single nucleotide variant Likely pathogenic rs769904764 GRCh37 Chromosome 11, 6415433: 6415433
18 SMPD1 NM_000543.4(SMPD1): c.1492C> T (p.Arg498Cys) single nucleotide variant Likely pathogenic rs769904764 GRCh38 Chromosome 11, 6394203: 6394203
19 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
20 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
21 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh37 Chromosome 11, 6414897: 6414897
22 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh38 Chromosome 11, 6393667: 6393667
23 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh37 Chromosome 11, 6413025: 6413025
24 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh38 Chromosome 11, 6391795: 6391795
25 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh37 Chromosome 11, 6414508: 6414508
26 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh38 Chromosome 11, 6393278: 6393278
27 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh37 Chromosome 11, 6413206: 6413206
28 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh38 Chromosome 11, 6391976: 6391976
29 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh37 Chromosome 11, 6414850: 6414850
30 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh38 Chromosome 11, 6393620: 6393620
31 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh37 Chromosome 11, 6414910: 6414910
32 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh38 Chromosome 11, 6393680: 6393680
33 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh37 Chromosome 11, 6413175: 6413175
34 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh38 Chromosome 11, 6391945: 6391945
35 SMPD1 NM_000543.4(SMPD1): c.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh37 Chromosome 11, 6413366: 6413366
36 SMPD1 NM_000543.4(SMPD1): c.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh38 Chromosome 11, 6392136: 6392136
37 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh37 Chromosome 11, 6414445: 6414445
38 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh38 Chromosome 11, 6393215: 6393215
39 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh37 Chromosome 11, 6414882: 6414882
40 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh38 Chromosome 11, 6393652: 6393652
41 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh37 Chromosome 11, 6415205: 6415206
42 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh38 Chromosome 11, 6393975: 6393976
43 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh37 Chromosome 11, 6415211: 6415211
44 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh38 Chromosome 11, 6393981: 6393981
45 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh37 Chromosome 11, 6415565: 6415565
46 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh38 Chromosome 11, 6394335: 6394335
47 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh37 Chromosome 11, 6413137: 6413144
48 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh38 Chromosome 11, 6391907: 6391914
49 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
50 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh38 Chromosome 11, 6391804: 6391804

Expression for Niemann-Pick Disease, Type B

Search GEO for disease gene expression data for Niemann-Pick Disease, Type B.

Pathways for Niemann-Pick Disease, Type B

GO Terms for Niemann-Pick Disease, Type B

Cellular components related to Niemann-Pick Disease, Type B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 APOA1 CHIT1 LCAT NPB NPC1 NPC2
2 high-density lipoprotein particle GO:0034364 9.16 APOA1 LCAT
3 lysosome GO:0005764 9.02 CHIT1 NPC1 NPC2 SMPD1 SQSTM1

Biological processes related to Niemann-Pick Disease, Type B according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 ABCA1 APOA1 LCAT NPC1 NPC2
2 response to drug GO:0042493 9.86 ABCA1 APOA1 NPC1 SMPD1
3 lipid transport GO:0006869 9.8 ABCA1 APOA1 GULP1 NPC1 NPC2
4 steroid metabolic process GO:0008202 9.72 ABCA1 APOA1 LCAT NPC1 NPC2
5 phospholipid transport GO:0015914 9.67 ABCA1 APOA1 NPC2
6 cholesterol homeostasis GO:0042632 9.65 ABCA1 APOA1 LCAT NPC1 NPC2
7 reverse cholesterol transport GO:0043691 9.63 ABCA1 APOA1 LCAT
8 response to cocaine GO:0042220 9.62 PITX3 SMPD1
9 phosphatidylcholine biosynthetic process GO:0006656 9.61 APOA1 LCAT
10 lipoprotein metabolic process GO:0042157 9.61 ABCA1 APOA1
11 intracellular cholesterol transport GO:0032367 9.61 ABCA1 NPC1 NPC2
12 low-density lipoprotein particle clearance GO:0034383 9.6 NPC1 NPC2
13 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.59 ABCA1 NPC1
14 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 LCAT
15 high-density lipoprotein particle assembly GO:0034380 9.58 ABCA1 APOA1
16 phospholipid efflux GO:0033700 9.57 ABCA1 APOA1
17 phospholipid homeostasis GO:0055091 9.55 ABCA1 APOA1
18 cholesterol metabolic process GO:0008203 9.55 ABCA1 APOA1 LCAT NPC1 NPC2
19 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOA1 LCAT
20 lipoprotein biosynthetic process GO:0042158 9.54 ABCA1 APOA1 LCAT
21 regulation of Cdc42 protein signal transduction GO:0032489 9.52 ABCA1 APOA1
22 regulation of high-density lipoprotein particle assembly GO:0090107 9.48 ABCA1 LCAT
23 cholesterol efflux GO:0033344 9.26 ABCA1 APOA1 NPC1 NPC2
24 cholesterol transport GO:0030301 9.02 ABCA1 APOA1 LCAT NPC1 NPC2

Molecular functions related to Niemann-Pick Disease, Type B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid transporter activity GO:0005548 9.37 ABCA1 APOA1
2 lipid transporter activity GO:0005319 9.33 ABCA1 APOA1 NPC1
3 high-density lipoprotein particle binding GO:0008035 9.32 ABCA1 APOA1
4 apolipoprotein A-I binding GO:0034186 9.26 ABCA1 LCAT
5 cholesterol transporter activity GO:0017127 9.13 ABCA1 APOA1 NPC2
6 cholesterol binding GO:0015485 8.92 ABCA1 APOA1 NPC1 NPC2

Sources for Niemann-Pick Disease, Type B

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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70 SNOMED-CT via HPO
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