MCID: NMN016
MIFTS: 42

Niemann-Pick Disease, Type B

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

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.

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 body mass index quantitative trait locus 11, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1). The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are splenomegaly and recurrent respiratory infections

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)

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.

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.

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 all 18)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type a 11.3
2 body mass index quantitative trait locus 11 11.1
3 niemann-pick disease 10.9
4 acid sphingomyelinase deficiency 10.3
5 hematopoietic stem cell transplantation 10.2
6 histiocytosis 10.2
7 arteries, anomalies of 10.0
8 emphysema, congenital lobar 10.0
9 myositis 10.0
10 infantile liver failure syndrome 1 10.0
11 coronary artery anomaly 10.0
12 hepatitis 10.0
13 thrombocytopenia 10.0
14 pulmonary alveolar proteinosis 10.0
15 interstitial lung disease 10.0
16 myositis ossificans 10.0
17 lung disease 10.0
18 lichen nitidus 10.0

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
AbdomenSpleen:
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:


constipation, vomiting, muscle weakness, dyspnea

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 7)
# 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 50-18-0, 6055-19-2 2907
4 Alkylating Agents Phase 2
5 Antineoplastic Agents, Alkylating Phase 2
6 Antirheumatic Agents Phase 2
7 Immunosuppressive Agents 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
Bone, Bone Marrow, Lung, Liver, Spleen, Brain, Kidney

Publications for Niemann-Pick Disease, Type B

Articles related to Niemann-Pick Disease, Type B:

(show all 50)
# Title Authors Year
1
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity. ( 29090525 )
2018
2
Interstitial Lung Disease Associated with Adult Niemann-Pick Disease Type B. ( 28601876 )
2017
3
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
4
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement. ( 29340494 )
2017
5
Niemann-Pick Disease Type B in a 21 Year Old Male. ( 27277377 )
2016
6
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
7
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. ( 27408787 )
2016
8
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. ( 25920558 )
2015
9
Adult Niemann-Pick disease type B with myositis ossificans: a case report. ( 26338042 )
2015
10
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
11
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
12
Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP. ( 23415435 )
2013
13
Generalized lichen nitidus in a boy with Niemann-Pick disease type B. ( 24474110 )
2013
14
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. ( 22718274 )
2013
15
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
16
Lung affectation in an adult patient with Niemann-Pick disease, type B. ( 22075404 )
2012
17
Adult-onset pulmonary involvement in Niemann-Pick disease type B. ( 22462311 )
2011
18
Imaging manifestations of Niemann-Pick disease type B. ( 20028884 )
2010
19
Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement. ( 20585986 )
2010
20
Niemann-Pick disease type B with severe coronary artery disease and early recurrence after coronary artery bypass grafting. ( 21291790 )
2009
21
Psychosocial aspects of patients with Niemann-Pick disease, type B. ( 19877061 )
2009
22
Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. ( 19864213 )
2009
23
Niemann-Pick disease type B presenting with hepatosplenomegaly and thrombocytopenia. ( 19088546 )
2008
24
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. ( 18625664 )
2008
25
Clinical findings in Niemann-Pick disease type B. ( 16472269 )
2006
26
Increased sphingomyelin content impairs HDL biogenesis and maturation in human Niemann-Pick disease type B. ( 16319418 )
2006
27
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. ( 16211396 )
2006
28
A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. ( 16163596 )
2005
29
ESI-MS quantitation of increased sphingomyelin in Niemann-Pick disease type B HDL. ( 15741650 )
2005
30
Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. ( 16199719 )
2005
31
Preimplantation genetic diagnosis for Niemann-Pick disease type B. ( 15612058 )
2004
32
Ocular manifestations of Niemann-Pick disease type B. ( 15234149 )
2004
33
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
34
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. ( 11932991 )
2002
35
Hepatic storage of glycogen in Niemann-Pick disease type B. ( 11391349 )
2001
36
Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B. ( 11524264 )
2001
37
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. ( 11732877 )
2001
38
Niemann-Pick disease type B in pregnancy. ( 9166354 )
1997
39
Asymptomatic pulmonary involvement in 2 children with Niemann-Pick disease type B. ( 8177975 )
1994
40
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. ( 8225311 )
1993
41
Fatal liver failure in two children with Niemann-Pick disease type B. ( 1919942 )
1991
42
Niemann-Pick disease type B with ocular involvement: report of a case. ( 1776442 )
1991
43
Evidence of polyglandular involvement in Niemann-Pick disease type B. ( 2820735 )
1987
44
Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation. ( 3121020 )
1987
45
Ocular involvement in Niemann-Pick disease type B. ( 3958834 )
1986
46
Niemann-Pick disease type B: clinical signs and follow-up of a new case. ( 3088327 )
1986
47
Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development. ( 3933867 )
1985
48
Ultrastructural investigations on two lymphoid cell lines from Niemann-Pick disease type B. ( 6087964 )
1984
49
Niemann Pick disease type B with oculoneural involvement. ( 6418652 )
1983
50
A report of a patient with Niemann-Pick disease type B and a review of the patients in Japan. ( 7334690 )
1981

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.Gly242Arg VAR_005058
2 SMPD1 p.Glu246Gln VAR_005059
3 SMPD1 p.Met382Ile VAR_005061
4 SMPD1 p.Asn383Ser VAR_005062
5 SMPD1 p.Trp391Gly VAR_005064
6 SMPD1 p.Ser436Arg VAR_005065
7 SMPD1 p.Cys157Arg VAR_011387
8 SMPD1 p.Ser248Arg VAR_015287
9 SMPD1 p.Pro371Ser VAR_015289
10 SMPD1 p.His421Tyr VAR_015290
11 SMPD1 p.Pro475Leu VAR_015292
12 SMPD1 p.Cys92Trp VAR_060871
13 SMPD1 p.Leu103Pro VAR_060872
14 SMPD1 p.Val130Ala VAR_060873
15 SMPD1 p.Leu137Pro VAR_060874
16 SMPD1 p.Gly166Arg VAR_060875
17 SMPD1 p.Ile176Asn VAR_060876
18 SMPD1 p.Ala196Pro VAR_060878
19 SMPD1 p.Arg200Cys VAR_060879
20 SMPD1 p.Leu225Met VAR_060880
21 SMPD1 p.Leu225Pro VAR_060881
22 SMPD1 p.Arg228Cys VAR_060882
23 SMPD1 p.Gly232Asp VAR_060884
24 SMPD1 p.Trp244Cys VAR_060886
25 SMPD1 p.Gly245Ser VAR_060887
26 SMPD1 p.Ala281Thr VAR_060891
27 SMPD1 p.Pro323Ala VAR_060896
28 SMPD1 p.Pro330Arg VAR_060897
29 SMPD1 p.Ala357Asp VAR_060899
30 SMPD1 p.Arg376His VAR_060901
31 SMPD1 p.Arg376Leu VAR_060902
32 SMPD1 p.Ser379Pro VAR_060903
33 SMPD1 p.Ala413Val VAR_060905
34 SMPD1 p.Cys431Arg VAR_060907
35 SMPD1 p.Leu432Pro VAR_060908
36 SMPD1 p.Trp435Cys VAR_060909
37 SMPD1 p.Ala452Val VAR_060911
38 SMPD1 p.Gly456Asp VAR_060912
39 SMPD1 p.Arg474Trp VAR_060914
40 SMPD1 p.Phe480Leu VAR_060915
41 SMPD1 p.Thr486Ala VAR_060918
42 SMPD1 p.Tyr488Asn VAR_060919
43 SMPD1 p.Gly494Ser VAR_060920
44 SMPD1 p.Arg496Cys VAR_060921
45 SMPD1 p.His514Gln VAR_060924
46 SMPD1 p.Glu515Val VAR_060925
47 SMPD1 p.Trp533Arg VAR_060927
48 SMPD1 p.Leu549Pro VAR_060928
49 SMPD1 p.Asp563Tyr VAR_060929
50 SMPD1 p.Lys576Asn VAR_060930

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

6
(show top 50) (show all 90)
# 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.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh37 Chromosome 11, 6414445: 6414445
20 SMPD1 NM_000543.4(SMPD1): c.1092-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs398123474 GRCh38 Chromosome 11, 6393215: 6393215
21 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh37 Chromosome 11, 6414882: 6414882
22 SMPD1 NM_000543.4(SMPD1): c.1299T> G (p.Cys433Trp) single nucleotide variant Likely pathogenic rs398123475 GRCh38 Chromosome 11, 6393652: 6393652
23 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh37 Chromosome 11, 6415205: 6415206
24 SMPD1 NM_000543.4(SMPD1): c.1420_1421delCT (p.Leu474Glufs) deletion Pathogenic rs398123476 GRCh38 Chromosome 11, 6393975: 6393976
25 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh37 Chromosome 11, 6415211: 6415211
26 SMPD1 NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp) single nucleotide variant Pathogenic/Likely pathogenic rs182812968 GRCh38 Chromosome 11, 6393981: 6393981
27 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh37 Chromosome 11, 6415565: 6415565
28 SMPD1 NM_000543.4(SMPD1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs398123478 GRCh38 Chromosome 11, 6394335: 6394335
29 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic/Likely pathogenic rs398123479 GRCh37 Chromosome 11, 6413052: 6413052
30 SMPD1 NM_000543.4(SMPD1): c.757G> C (p.Asp253His) single nucleotide variant Pathogenic/Likely pathogenic rs398123479 GRCh38 Chromosome 11, 6391822: 6391822
31 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh37 Chromosome 11, 6413137: 6413144
32 SMPD1 NM_000543.4(SMPD1): c.842_849dupTCCCCGCA (p.His284Serfs) duplication Pathogenic rs281860677 GRCh38 Chromosome 11, 6391907: 6391914
33 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh37 Chromosome 11, 6413034: 6413034
34 SMPD1 NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779408 GRCh38 Chromosome 11, 6391804: 6391804
35 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh37 Chromosome 11, 6415434: 6415434
36 SMPD1 NM_000543.4(SMPD1): c.1493G> A (p.Arg498His) single nucleotide variant Likely pathogenic rs120074117 GRCh38 Chromosome 11, 6394204: 6394204
37 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic rs727504166 GRCh37 Chromosome 11, 6412770: 6412770
38 SMPD1 NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg) single nucleotide variant Pathogenic rs727504166 GRCh38 Chromosome 11, 6391540: 6391540
39 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh37 Chromosome 11, 6412649: 6412649
40 SMPD1 NM_000543.4(SMPD1): c.354delC (p.Ile119Serfs) deletion Pathogenic/Likely pathogenic rs727504165 GRCh38 Chromosome 11, 6391419: 6391419
41 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh37 Chromosome 11, 6412868: 6412868
42 SMPD1 NM_000543.4(SMPD1): c.573delT (p.Ser192Alafs) deletion Pathogenic rs727504167 GRCh38 Chromosome 11, 6391638: 6391638
43 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh37 Chromosome 11, 6413080: 6413102
44 SMPD1 NM_000543.4(SMPD1): c.785_807del23 (p.Leu262Argfs) deletion Pathogenic rs794727252 GRCh38 Chromosome 11, 6391850: 6391872
45 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh37 Chromosome 11, 6412853: 6412854
46 SMPD1 NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs) insertion Pathogenic rs756366019 GRCh38 Chromosome 11, 6391623: 6391624
47 SMPD1 NM_000543.4(SMPD1): c.1340+7C> T single nucleotide variant Benign/Likely benign rs116480929 GRCh37 Chromosome 11, 6414930: 6414930
48 SMPD1 NM_000543.4(SMPD1): c.1340+7C> T single nucleotide variant Benign/Likely benign rs116480929 GRCh38 Chromosome 11, 6393700: 6393700
49 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh37 Chromosome 11, 6415770: 6415772
50 SMPD1 NM_000543.4(SMPD1): c.1829_1831delGCC (p.Arg610del) deletion Pathogenic rs120074118 GRCh38 Chromosome 11, 6394540: 6394542

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

Sources for Niemann-Pick Disease, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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