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Aliases for SMPD1 Gene

Aliases for SMPD1 Gene

  • Sphingomyelin Phosphodiesterase 1 2 3 5
  • Acid Sphingomyelinase 2 3 4
  • Sphingomyelin Phosphodiesterase 1, Acid Lysosomal 2 3
  • ASMASE 3 4
  • ASM 3 4
  • Sphingomyelin Phosphodiesterase 3
  • EC 3.1.4.12 4
  • NPD 3

External Ids for SMPD1 Gene

Previous GeneCards Identifiers for SMPD1 Gene

  • GC11P007154
  • GC11P006873
  • GC11P006370
  • GC11P006376
  • GC11P006368
  • GC11P006070
  • GC11P006411

Summaries for SMPD1 Gene

Entrez Gene Summary for SMPD1 Gene

  • The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

GeneCards Summary for SMPD1 Gene

SMPD1 (Sphingomyelin Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with SMPD1 include Niemann-Pick Disease, Type B and Niemann-Pick Disease, Type A. Among its related pathways are Ovarian Infertility Genes and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and sphingomyelin phosphodiesterase activity. An important paralog of this gene is SMPDL3B.

UniProtKB/Swiss-Prot for SMPD1 Gene

  • Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.

  • Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.

  • Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.

Gene Wiki entry for SMPD1 Gene

Additional gene information for SMPD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMPD1 Gene

Genomics for SMPD1 Gene

GeneHancer (GH) Regulatory Elements for SMPD1 Gene

Promoters and enhancers for SMPD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I006387 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 564.1 -0.9 -874 4.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 KLF13 SMPD1 ENSG00000254443
GH11I006479 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.4 +91.1 91131 3.6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 TIMM10B ARFIP2 ENSG00000283977 FAM160A2 APBB1 SMPD1 TRIM34 TRIM3 GC11P006473
GH11I006400 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 13.4 +13.1 13069 5.5 SIN3A BATF IRF4 SCRT2 ETV6 BCLAF1 IKZF2 RUNX3 CBFB JUNB APBB1 SMPD1 HPX ARFIP2 TIMM10B CAVIN3 GC11P006400 PIR40798
GH11I006473 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.4 +85.0 85035 4.6 HDAC1 FOXA2 RB1 KLF17 SIN3A ZBTB40 RAD21 ZNF335 POLR2B GLIS2 TRIM3 GC11P006473 APBB1 SMPD1 TIMM10B ARFIP2
GH11I006742 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +354.9 354931 6.5 PKNOX1 SMAD1 YBX1 TCF12 ZNF766 ZNF207 RUNX3 JUNB ZNF592 SMARCA4 GVINP1 OR2AG2 ILK RRP8 ENSG00000254641 TAF10 OR10A4 APBB1 SMPD1 OR2AG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMPD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMPD1 gene promoter:

Genomic Locations for SMPD1 Gene

Genomic Locations for SMPD1 Gene
chr11:6,390,301-6,394,998
(GRCh38/hg38)
Size:
4,698 bases
Orientation:
Plus strand
chr11:6,411,644-6,416,228
(GRCh37/hg19)

Genomic View for SMPD1 Gene

Genes around SMPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMPD1 Gene

Proteins for SMPD1 Gene

  • Protein details for SMPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17405-ASM_HUMAN
    Recommended name:
    Sphingomyelin phosphodiesterase
    Protein Accession:
    P17405
    Secondary Accessions:
    • A8K8M3
    • E9PKS3
    • P17406
    • Q13811
    • Q16837
    • Q16841

    Protein attributes for SMPD1 Gene

    Size:
    629 amino acids
    Molecular mass:
    69752 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • There are two types of sphingomyelinases: ASM (acid), and NSM (neutral).

    Three dimensional structures from OCA and Proteopedia for SMPD1 Gene

    Alternative splice isoforms for SMPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMPD1 Gene

Post-translational modifications for SMPD1 Gene

  • Glycosylation at posLast=8686, posLast=175175, isoforms=2, 3, 4335, isoforms=4395, and posLast=520520

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMPD1 (SMPD1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SMPD1

No data available for DME Specific Peptides for SMPD1 Gene

Domains & Families for SMPD1 Gene

Gene Families for SMPD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P17405

UniProtKB/Swiss-Prot:

ASM_HUMAN :
  • Belongs to the acid sphingomyelinase family.
Family:
  • Belongs to the acid sphingomyelinase family.
genes like me logo Genes that share domains with SMPD1: view

Function for SMPD1 Gene

Molecular function for SMPD1 Gene

GENATLAS Biochemistry:
sphingomyelin phosphodiesterase 1,lysosomal (acid sphingomyelinase),hydrolyzing sphingomyelin to ceramide and phosphocholine,activated by TNFRSF1A and initiating the apoptotic pathway
UniProtKB/Swiss-Prot CatalyticActivity:
Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
UniProtKB/Swiss-Prot Function:
Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.
UniProtKB/Swiss-Prot Function:
Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.
UniProtKB/Swiss-Prot Function:
Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.

Enzyme Numbers (IUBMB) for SMPD1 Gene

Phenotypes From GWAS Catalog for SMPD1 Gene

Gene Ontology (GO) - Molecular Function for SMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004767 sphingomyelin phosphodiesterase activity TAS --
GO:0005515 protein binding IPI 21157428
GO:0008270 zinc ion binding IDA 8702487
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with SMPD1: view
genes like me logo Genes that share phenotypes with SMPD1: view

Human Phenotype Ontology for SMPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMPD1 Gene

MGI Knock Outs for SMPD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for SMPD1 Gene

Localization for SMPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMPD1 Gene

Lysosome. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMPD1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 8702487
GO:0005764 lysosome IEA,IDA 18815062
GO:0005768 endosome IDA 20956541
GO:0005886 plasma membrane IDA 20956541
genes like me logo Genes that share ontologies with SMPD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMPD1 Gene

Pathways & Interactions for SMPD1 Gene

genes like me logo Genes that share pathways with SMPD1: view

SIGNOR curated interactions for SMPD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006684 sphingomyelin metabolic process TAS 7670466
GO:0006685 sphingomyelin catabolic process IDA 18815062
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0007165 signal transduction TAS 7670466
GO:0007399 nervous system development TAS 7670466
genes like me logo Genes that share ontologies with SMPD1: view

Drugs & Compounds for SMPD1 Gene

(30) Drugs for SMPD1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desipramine Approved, Investigational Pharma Target, inhibitor 39
Amlodipine Approved Pharma Target Calcium channel blocker 512
Chlorpromazine Approved, Investigational, Vet_approved Pharma Antagonist, Target 19
Water Approved Pharma 0

(141) Additional Compounds for SMPD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
phosphorylcholine
  • Choline phosphate
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphocholine
  • Phosphoryl-choline
3616-04-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
genes like me logo Genes that share compounds with SMPD1: view

Transcripts for SMPD1 Gene

Unigene Clusters for SMPD1 Gene

Sphingomyelin phosphodiesterase 1, acid lysosomal:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMPD1 Gene

No ASD Table

Relevant External Links for SMPD1 Gene

GeneLoc Exon Structure for
SMPD1
ECgene alternative splicing isoforms for
SMPD1

Expression for SMPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMPD1 Gene

This gene is overexpressed in Amniocyte (37.6), Islet of Langerhans (8.6), and Liver (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMPD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMPD1 Gene:

SMPD1

SOURCE GeneReport for Unigene cluster for SMPD1 Gene:

Hs.498173

Evidence on tissue expression from TISSUES for SMPD1 Gene

  • Nervous system(4.2)
  • Liver(2.7)
  • Blood(2.5)
  • Heart(2.5)
  • Kidney(2.5)
  • Lung(2.4)
  • Muscle(2.3)
  • Skin(2.3)
  • Intestine(2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMPD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SMPD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SMPD1 Gene

Orthologs for SMPD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMPD1 33 34
  • 98.99 (n)
cow
(Bos Taurus)
Mammalia SMPD1 33 34
  • 86.08 (n)
dog
(Canis familiaris)
Mammalia SMPD1 33 34
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Smpd1 33
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Smpd1 33 16 34
  • 82.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMPD1 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMPD1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMPD1 33 34
  • 68.22 (n)
lizard
(Anolis carolinensis)
Reptilia SMPD1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487433 33
  • 64.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2147 33
zebrafish
(Danio rerio)
Actinopterygii smpd1 33 34
  • 59.73 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3961 33
fruit fly
(Drosophila melanogaster)
Insecta CG3376 35 33 34
  • 52.78 (n)
CG15533 35 34
  • 32 (a)
CG15534 35 34
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011940 33
  • 52.65 (n)
worm
(Caenorhabditis elegans)
Secernentea asm-2 33 34
  • 45.49 (n)
B0252.2 35
  • 34 (a)
ZK455.4 35
  • 33 (a)
W03G1.7 35
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL091C 33
  • 44.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PPN1 34
  • 13 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06697 33
  • 43.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 10 (a)
OneToOne
Species where no ortholog for SMPD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMPD1 Gene

ENSEMBL:
Gene Tree for SMPD1 (if available)
TreeFam:
Gene Tree for SMPD1 (if available)

Paralogs for SMPD1 Gene

Paralogs for SMPD1 Gene

genes like me logo Genes that share paralogs with SMPD1: view

Variants for SMPD1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SMPD1 Gene

ASM_HUMAN-P17405
A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region.

Sequence variations from dbSNP and Humsavar for SMPD1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1050228 benign, not specified, Sphingomyelin/cholesterol lipidosis 6,390,705(+) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1050233 benign, Sphingomyelin/cholesterol lipidosis 6,392,036(+) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1050239 benign, likely-benign, not specified, Sphingomyelin/cholesterol lipidosis 6,394,233(+) G/A/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057516403 likely-pathogenic, pathogenic, Niemann-Pick disease, type A, not provided 6,394,495(+) TTT/T 3_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057516432 likely-pathogenic, Niemann-Pick disease, type A 6,393,263(+) TCTCTCTC/TCTCTC coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SMPD1 Gene

Variant ID Type Subtype PubMed ID
nsv553371 CNV loss 21841781

Variation tolerance for SMPD1 Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.42; 81.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMPD1 Gene

Human Gene Mutation Database (HGMD)
SMPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMPD1

Disorders for SMPD1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for SMPD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
niemann-pick disease, type b
  • niemann-pick disease, type a
niemann-pick disease, type a
  • sphingomyelin lipidosis
niemann-pick disease
  • lipoid histiocytosis
acid sphingomyelinase deficiency
  • niemann-pick disease, type a
narcissistic personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search SMPD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASM_HUMAN
  • Niemann-Pick disease A (NPDA) [MIM:257200]: An early-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. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. 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. {ECO:0000269 PubMed:12556236, ECO:0000269 PubMed:1391960, ECO:0000269 PubMed:15221801, ECO:0000269 PubMed:15877209, ECO:0000269 PubMed:1618760, ECO:0000269 PubMed:1718266, ECO:0000269 PubMed:18815062, ECO:0000269 PubMed:19405096, ECO:0000269 PubMed:2023926, ECO:0000269 PubMed:20386867, ECO:0000269 PubMed:22818240, ECO:0000269 PubMed:23252888, ECO:0000269 PubMed:23430884, ECO:0000269 PubMed:26499107, ECO:0000269 PubMed:27338287, ECO:0000269 PubMed:8680412, ECO:0000269 PubMed:8693491, ECO:0000269 PubMed:9266408}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Niemann-Pick disease B (NPDB) [MIM:607616]: 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. {ECO:0000269 PubMed:12369017, ECO:0000269 PubMed:12556236, ECO:0000269 PubMed:1301192, ECO:0000269 PubMed:15241805, ECO:0000269 PubMed:16010684, ECO:0000269 PubMed:1618760, ECO:0000269 PubMed:16472269, ECO:0000269 PubMed:18815062, ECO:0000269 PubMed:1885770, ECO:0000269 PubMed:19050888, ECO:0000269 PubMed:19405096, ECO:0000269 PubMed:20386867, ECO:0000269 PubMed:21621718, ECO:0000269 PubMed:22613662, ECO:0000269 PubMed:22818240, ECO:0000269 PubMed:23252888, ECO:0000269 PubMed:23430512, ECO:0000269 PubMed:25920558, ECO:0000269 PubMed:26084044, ECO:0000269 PubMed:26499107, ECO:0000269 PubMed:27338287, ECO:0000269 PubMed:27659707, ECO:0000269 PubMed:8051942, ECO:0000269 PubMed:8664904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SMPD1 Gene

Niemann-Pick disease,types A & B

Additional Disease Information for SMPD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMPD1: view

Publications for SMPD1 Gene

  1. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. (PMID: 18815062) Jones I … Schuchman EH (Molecular genetics and metabolism 2008) 3 4 22 58
  2. Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol. (PMID: 18088425) Dastani Z … Marcil M (BMC medical genetics 2007) 3 4 22 58
  3. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. (PMID: 16010684) Dardis A … Pittis MG (Human mutation 2005) 3 4 22 58
  4. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. (PMID: 15241805) Pittis MG … Bembi B (Human mutation 2004) 3 4 22 58
  5. Human acid sphingomyelinase. (PMID: 12631268) Lansmann S … Sandhoff K (European journal of biochemistry 2003) 3 4 22 58

Products for SMPD1 Gene

Sources for SMPD1 Gene

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