NPDB
MCID: NMN016
MIFTS: 62

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 57 29 13 6 44 40 73
Niemann-Pick Disease Type B 12 53 59 15
Niemann-Pick Disease Type E 59 75
Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression 75
Niemann-Pick Disease Adult Non-Neuronopathic Form 75
Niemann-Pick Disease Visceral Form 75
Niemann-Pick Disease, Type a 73
Niemann-Picks Disease Type B 55
Niemann-Pick Disease, Type E 73
Sphingomyelinase Deficiency 75
Niemann Pick Disease Type B 53
Niemann-Pick Disease Type I 75
Niemann-Pick Disease Type F 75
Sphingomyelin Lipidosis 75
Niemann-Pick Disease B 75
Niemann-Pick Diseases 73
Npdb 75
Npb 75

Characteristics:

Orphanet epidemiological data:

59
niemann-pick disease type b
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

57
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:

32
niemann-pick disease, type b:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607616
Disease Ontology 12 DOID:0070112
ICD10 33 E75.2
MESH via Orphanet 45 D052537
UMLS via Orphanet 74 C0268243 C0268248
ICD10 via Orphanet 34 E75.2
MeSH 44 D052537

Summaries for Niemann-Pick Disease, Type B

NIH Rare Diseases : 53 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, 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 : 57 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 : 75 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 57)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type a 32.6 NPC1 NPC2 SMPD1
2 niemann-pick disease, type c1 31.9 ABCA1 NPC1 NPC2 SMPD1
3 niemann-pick disease 31.8 NPC1 NPC2 SMPD1
4 body mass index quantitative trait locus 11 31.3 ABCA1 APOA1 LPA NPB
5 acid sphingomyelinase deficiency 31.0 NPC1 SMPD1
6 sea-blue histiocyte disease 30.9 LCAT SMPD1
7 arteries, anomalies of 30.2 ABCA1 APOA1 LPA
8 atherosclerosis susceptibility 29.7 ABCA1 APOA1 LPA
9 histiocytosis 10.4
10 hematopoietic stem cell transplantation 10.3
11 niemann-pick disease type c, severe perinatal form 10.2 NPC1 NPC2
12 niemann-pick disease type c, late infantile neurologic onset 10.2 NPC1 NPC2
13 niemann-pick disease type c, severe early infantile neurologic onset 10.2 NPC1 NPC2
14 niemann-pick disease type c, adult neurologic onset 10.2 NPC1 NPC2
15 niemann-pick disease type c, juvenile neurologic onset 10.2 NPC1 NPC2
16 apo a-i deficiency 10.2 APOA1 LCAT
17 familial lcat deficiency 10.2 APOA1 LCAT
18 gangliosidosis gm2 10.2 HEXA NPC1
19 fish-eye disease 10.2 APOA1 LCAT
20 emphysema, congenital lobar 10.2
21 myositis 10.2
22 infantile liver failure syndrome 1 10.2
23 coronary artery anomaly 10.2
24 thrombocytopenia 10.2
25 pulmonary alveolar proteinosis 10.2
26 interstitial lung disease 10.2
27 myositis ossificans 10.2
28 lung disease 10.2
29 lichen nitidus 10.2
30 niemann-pick disease, type c2 10.1 NPC1 NPC2 SMPD1
31 sandhoff disease 10.1 HEXA NPC1
32 lipoprotein glomerulopathy 10.1 LCAT LPA
33 fetal macrosomia 10.1 APOA1 LCAT
34 leukodystrophy, hypomyelinating, 3 10.1 APOA1 LPA
35 hyperlipidemia, familial combined 10.1 APOA1 LPA
36 inherited metabolic disorder 10.1 APOA1 HEXA NPC1
37 hypoalphalipoproteinemia, primary 10.1 ABCA1 APOA1 LCAT
38 amyloidosis aa 10.1 APOA1 LCAT LPA
39 sphingolipidosis 10.0 HEXA NPC1 NPC2 SMPD1
40 hyperalphalipoproteinemia 1 10.0 ABCA1 APOA1 LCAT
41 lipid storage disease 10.0 HEXA NPC1 NPC2 SMPD1
42 arcus corneae 10.0 APOA1 LCAT LPA
43 familial hyperlipidemia 10.0 APOA1 LCAT LPA
44 primary biliary cholangitis 10.0 ABCA1 VDR
45 aortic atherosclerosis 10.0 ABCA1 LPA
46 vitamin e, familial isolated deficiency of 10.0 ABCA1 APOA1
47 lecithin:cholesterol acyltransferase deficiency 9.9 APOA1 CSF1R LCAT LPA
48 hypolipoproteinemia 9.9 ABCA1 APOA1 LCAT LPA
49 lipid metabolism disorder 9.9 ABCA1 APOA1 LCAT LPA
50 hypobetalipoproteinemia, familial, 2 9.9 APOA1 LPA

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 recurrent respiratory infections 32 HP:0002205
3 hepatomegaly 32 HP:0002240
4 short stature 32 HP:0004322
5 dyspnea 32 HP:0002094
6 hypertriglyceridemia 32 HP:0002155
7 diffuse reticular or finely nodular infiltrations 32 HP:0002207
8 sea-blue histiocytosis 32 HP:0001982
9 bone-marrow foam cells 32 HP:0004333
10 decreased hdl cholesterol concentration 32 HP:0003233
11 increased ldl cholesterol concentration 32 HP:0003141
12 foam cells with lamellar inclusion bodies 32 HP:0003609
13 abnormal macular morphology 32 HP:0001103

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.28 ABCA1 CSF1R HEXA LPA MFSD10 PITX3
2 Decreased free cholesterol GR00340-A-2 9.26 ABCA1 APOA1 LPA NPC1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CSF1R HEXA NPB NPC1 NPC2 PITX3
2 cellular MP:0005384 10.11 ABCA1 APOA1 CSF1R NPC1 NPC2 PITX3
3 growth/size/body region MP:0005378 10.1 ABCA1 CSF1R HEXA NPB NPC1 NPC2
4 homeostasis/metabolism MP:0005376 10.06 ABCA1 APOA1 CSF1R HEXA LCAT NPC1
5 endocrine/exocrine gland MP:0005379 10.03 ABCA1 APOA1 CSF1R LCAT NPC1 NPC2
6 hematopoietic system MP:0005397 10.02 ABCA1 CSF1R LCAT NPC1 NPC2 PITX3
7 liver/biliary system MP:0005370 9.91 ABCA1 APOA1 HEXA LCAT NPC1 NPC2
8 nervous system MP:0003631 9.81 ABCA1 CSF1R HEXA NPC1 NPC2 PITX3
9 reproductive system MP:0005389 9.5 ABCA1 CSF1R HEXA NPC1 PITX3 SMPD1
10 skeleton MP:0005390 9.17 ABCA1 CSF1R HEXA NPC1 PITX3 SQSTM1

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
2
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4 Antineoplastic Agents, Alkylating Phase 2
5 Immunosuppressive Agents Phase 2
6 Alkylating Agents Phase 2
7 Antirheumatic Agents Phase 2
8 Immunologic Factors 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 29 SMPD1

Anatomical Context for Niemann-Pick Disease, Type B

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

41
Liver, Bone, Bone Marrow, Lung, Spleen, Brain, Eye

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show top 50) (show all 59)
# Title Authors Year
1
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
2
Niemann-Pick Disease Type B: A Rare Cause of Lung Cysts. ( 30025906 )
2018
3
Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B. ( 30050708 )
2018
4
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
5
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
6
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement. ( 29340494 )
2017
7
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
8
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
9
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
10
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B. ( 29485843 )
2016
11
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. ( 25920558 )
2015
12
Adult Niemann-Pick disease type B with myositis ossificans: a case report. ( 26338042 )
2015
13
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
14
Two siblings with hepatosplenomegaly and pulmonary reticulation. Niemann-Pick disease type B. ( 26582814 )
2015
15
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
16
Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. ( 23415435 )
2013
17
Generalized lichen nitidus in a boy with Niemann-Pick disease type B. ( 24474110 )
2013
18
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. ( 22718274 )
2013
19
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
20
Lung affectation in an adult patient with Niemann-Pick disease, type B. ( 22075404 )
2012
21
Adult-onset pulmonary involvement in Niemann-Pick disease type B. ( 22462311 )
2011
22
Imaging manifestations of Niemann-Pick disease type B. ( 20028884 )
2010
23
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement. ( 20585986 )
2010
24
Niemann-Pick disease type B with severe coronary artery disease and early recurrence after coronary artery bypass grafting. ( 21291790 )
2009
25
Psychosocial aspects of patients with Niemann-Pick disease, type B. ( 19877061 )
2009
26
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 19864213 )
2009
27
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 30256875 )
2009
28
Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia. ( 19088546 )
2008
29
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. ( 18625664 )
2008
30
Clinical findings in Niemann-Pick disease type B. ( 16472269 )
2006
31
Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B. ( 16319418 )
2006
32
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. ( 16211396 )
2006
33
A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. ( 16163596 )
2005
34
ESI-MS quantitation of increased sphingomyelin in Niemann-Pick disease type B HDL. ( 15741650 )
2005
35
Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. ( 16199719 )
2005
36
Preimplantation genetic diagnosis for Niemann-Pick disease type B. ( 15612058 )
2004
37
Ocular manifestations of Niemann-Pick disease type B. ( 15234149 )
2004
38
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
39
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. ( 11932991 )
2002
40
Hepatic storage of glycogen in Niemann-Pick disease type B. ( 11391349 )
2001
41
Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B. ( 11524264 )
2001
42
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. ( 11732877 )
2001
43
Niemann-Pick disease type B in pregnancy. ( 9166354 )
1997
44
Asymptomatic pulmonary involvement in 2 children with Niemann-Pick disease type B. ( 8177975 )
1994
45
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. ( 8225311 )
1993
46
Fatal liver failure in two children with Niemann-Pick disease type B. ( 1919942 )
1991
47
Niemann-Pick disease type B with ocular involvement: report of a case. ( 1776442 )
1991
48
Evidence of polyglandular involvement in Niemann-Pick disease type B. ( 2820735 )
1987
49
Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation. ( 3121020 )
1987
50
Niemann-Pick disease type B: clinical signs and follow-up of a new case. ( 3088327 )
1986

Variations for Niemann-Pick Disease, Type B

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

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

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

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
2 SMPD1 NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
3 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh37 Chromosome 11, 6414897: 6414897
4 SMPD1 NM_000543.4(SMPD1): c.1314C> A (p.Ser438Arg) single nucleotide variant Pathogenic rs267607073 GRCh38 Chromosome 11, 6393667: 6393667
5 SMPD1 NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile) single nucleotide variant Pathogenic rs120074121 GRCh37 Chromosome 11, 6414506: 6414506
6 SMPD1 NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile) single nucleotide variant Pathogenic rs120074121 GRCh38 Chromosome 11, 6393276: 6393276
7 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh37 Chromosome 11, 6413025: 6413025
8 SMPD1 NM_000543.4(SMPD1): c.730G> A (p.Gly244Arg) single nucleotide variant Pathogenic rs120074122 GRCh38 Chromosome 11, 6391795: 6391795
9 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh37 Chromosome 11, 6414508: 6414508
10 SMPD1 NM_000543.4(SMPD1): c.1154A> G (p.Asn385Ser) single nucleotide variant Pathogenic rs120074123 GRCh38 Chromosome 11, 6393278: 6393278
11 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh37 Chromosome 11, 6413206: 6413206
12 SMPD1 NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro) single nucleotide variant Pathogenic rs120074124 GRCh38 Chromosome 11, 6391976: 6391976
13 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh37 Chromosome 11, 6414850: 6414850
14 SMPD1 NM_000543.4(SMPD1): c.1267C> T (p.His423Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs120074126 GRCh38 Chromosome 11, 6393620: 6393620
15 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh37 Chromosome 11, 6414910: 6414910
16 SMPD1 NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs120074127 GRCh38 Chromosome 11, 6393680: 6393680
17 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh37 Chromosome 11, 6413175: 6413175
18 SMPD1 NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys) single nucleotide variant Pathogenic rs120074128 GRCh38 Chromosome 11, 6391945: 6391945
19 SMPD1 NM_000543.4(SMPD1): c.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh37 Chromosome 11, 6413366: 6413366
20 SMPD1 NM_000543.4(SMPD1): c.1071C> T (p.Ala357=) single nucleotide variant Conflicting interpretations of pathogenicity rs72896268 GRCh38 Chromosome 11, 6392136: 6392136
21 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh37 Chromosome 11, 6414445: 6414445
22 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh38 Chromosome 11, 6393215: 6393215
23 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh37 Chromosome 11, 6414882: 6414882
24 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh38 Chromosome 11, 6393652: 6393652
25 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh37 Chromosome 11, 6415205: 6415206
26 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh38 Chromosome 11, 6393975: 6393976
27 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh37 Chromosome 11, 6415211: 6415211
28 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh38 Chromosome 11, 6393981: 6393981
29 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh37 Chromosome 11, 6415565: 6415565
30 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh38 Chromosome 11, 6394335: 6394335
31 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic/Likely pathogenic rs398123479 GRCh37 Chromosome 11, 6413052: 6413052
32 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic/Likely pathogenic rs398123479 GRCh38 Chromosome 11, 6391822: 6391822
33 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh37 Chromosome 11, 6413137: 6413144
34 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh38 Chromosome 11, 6391907: 6391914
35 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
36 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh38 Chromosome 11, 6391804: 6391804
37 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
38 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
39 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727504166 GRCh37 Chromosome 11, 6412770: 6412770
40 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs727504166 GRCh38 Chromosome 11, 6391540: 6391540
41 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh37 Chromosome 11, 6412649: 6412649
42 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh38 Chromosome 11, 6391419: 6391419
43 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh37 Chromosome 11, 6412868: 6412868
44 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh38 Chromosome 11, 6391638: 6391638
45 SMPD1 NM_000543.4(SMPD1): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs1803161 GRCh37 Chromosome 11, 6413167: 6413167
46 SMPD1 NM_000543.4(SMPD1): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs1803161 GRCh38 Chromosome 11, 6391937: 6391937
47 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh37 Chromosome 11, 6413080: 6413102
48 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh38 Chromosome 11, 6391850: 6391872
49 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh37 Chromosome 11, 6412853: 6412854
50 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh38 Chromosome 11, 6391623: 6391624

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 9.87 APOA1 LCAT LPA NPB NPC1 NPC2
2 extracellular exosome GO:0070062 9.8 APOA1 HEXA LCAT NPC1 NPC2 SMPD1
3 high-density lipoprotein particle GO:0034364 9.16 APOA1 LCAT
4 lysosomal lumen GO:0043202 9.13 HEXA NPC2 SMPD1
5 lysosome GO:0005764 9.02 HEXA 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 9.95 ABCA1 APOA1 LCAT LPA NPC1 NPC2
2 response to drug GO:0042493 9.88 ABCA1 APOA1 NPC1 SMPD1
3 steroid metabolic process GO:0008202 9.8 ABCA1 APOA1 LCAT NPC1 NPC2
4 cholesterol homeostasis GO:0042632 9.72 ABCA1 APOA1 LCAT NPC1 NPC2
5 phospholipid transport GO:0015914 9.69 ABCA1 APOA1 NPC2
6 cholesterol metabolic process GO:0008203 9.65 ABCA1 APOA1 LCAT NPC1 NPC2
7 reverse cholesterol transport GO:0043691 9.63 ABCA1 APOA1 LCAT
8 glycosphingolipid metabolic process GO:0006687 9.62 HEXA 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 9.57 ABCA1 APOA1
16 phospholipid efflux GO:0033700 9.56 ABCA1 APOA1
17 phospholipid homeostasis GO:0055091 9.55 ABCA1 APOA1
18 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOA1 LCAT
19 lipoprotein biosynthetic process GO:0042158 9.54 ABCA1 APOA1 LCAT
20 regulation of Cdc42 protein signal transduction GO:0032489 9.52 ABCA1 APOA1
21 regulation of high-density lipoprotein particle assembly GO:0090107 9.49 ABCA1 LCAT
22 cholesterol efflux GO:0033344 9.46 ABCA1 APOA1 NPC1 NPC2
23 lipid transport GO:0006869 9.43 ABCA1 APOA1 GULP1 LPA 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 9.4 ABCA1 APOA1
2 apolipoprotein binding GO:0034185 9.37 ABCA1 LPA
3 lipid transporter activity GO:0005319 9.33 ABCA1 APOA1 NPC1
4 high-density lipoprotein particle binding GO:0008035 9.32 ABCA1 APOA1
5 apolipoprotein A-I binding GO:0034186 9.26 ABCA1 LCAT
6 cholesterol transporter activity GO:0017127 9.13 ABCA1 APOA1 NPC2
7 cholesterol binding GO:0015485 8.92 ABCA1 APOA1 NPC1 NPC2

Sources for Niemann-Pick Disease, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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