PedAM

Pediatric Disease Annotations & Medicines


	niemann-pick disease

Disease ID	458
Disease	niemann-pick disease
Definition	caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness.
Synonym	disease neimann picks disease niemann picks disease niemann-pick histiocytosis, lipid lipidosis, sphingomyelin lipoid histiocytosis (classical phosphatide) neimann pick disease neimann-pick disease neuronal cholesterol lipidosis neuronal cholesterol lipidosis, nos niemann pick dis niemann pick disease niemann pick diseases niemann-pick disease, nos niemann-pick diseases niemann-pick diseases [disease/finding] sphingomyelin lipidosis sphingomyelin lipidosis, nos sphingomyelin/cholesterol lipidosis sphingomyelin/cholesterol lipidosis (disorder) sphingomyelin/cholesterol lipidosis, nos sphingomyelinase deficiency
OMIM	OMIM:257200
DOID	DOID:14504
UMLS	C0028064
MeSH	D009542
SNOMED-CT	SNOMEDCT_US_2016_09_01:58459009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0039373 \| tay-sachs disease \| 2 C0033117 \| priapism \| 1 C0085078 \| lysosomal storage disorders \| 1 C0024623 \| gastric cancer \| 1 C0017205 \| gaucher disease \| 1 C0021053 \| immune dysfunction \| 1 C0028064 \| sphingomyelinase deficiency \| 1 C0027765 \| neurological disorder \| 1 C0027121 \| myositis \| 1 C0085078 \| lysosomal storage disease \| 1 C0027122 \| myositis ossificans \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) NPC2 \| 10577 \| UniProtKB-KW;GHR SMPD1 \| 6609 \| CLINVAR;CTD_human;UniProtKB-KW;GHR NPC1 \| 4864 \| UniProtKB-KW;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:130) 4074 \| M6PR \| DISEASES 6362 \| CCL18 \| DISEASES 8935 \| SKAP2 \| DISEASES 5009 \| OTC \| DISEASES 4504 \| MT3 \| DISEASES 50487 \| PLA2G3 \| DISEASES 9567 \| GTPBP1 \| DISEASES 410 \| ARSA \| DISEASES 5816 \| PVALB \| DISEASES 54 \| ACP5 \| DISEASES 23659 \| PLA2G15 \| DISEASES 8767 \| RIPK2 \| DISEASES 6348 \| CCL3 \| DISEASES 4669 \| NAGLU \| DISEASES 4848 \| CNOT2 \| DISEASES 5564 \| PRKAB1 \| DISEASES 7942 \| TFEB \| DISEASES 335 \| APOA1 \| DISEASES 9525 \| VPS4B \| DISEASES 348 \| APOE \| DISEASES 684 \| BST2 \| DISEASES 5565 \| PRKAB2 \| DISEASES 6538 \| SLC6A11 \| DISEASES 27183 \| VPS4A \| DISEASES 23640 \| HSPBP1 \| DISEASES 90070 \| LACRT \| DISEASES 6610 \| SMPD2 \| DISEASES 23205 \| ACSBG1 \| DISEASES 7274 \| TTPA \| DISEASES 3832 \| KIF11 \| DISEASES 2184 \| FAH \| DISEASES 6505 \| SLC1A1 \| DISEASES 3783 \| KCNN4 \| DISEASES 8647 \| ABCB11 \| DISEASES 5007 \| OSBP \| DISEASES 3931 \| LCAT \| DISEASES 60482 \| SLC5A7 \| DISEASES 3938 \| LCT \| DISEASES 2891 \| GRIA2 \| DISEASES 1356 \| CP \| DISEASES 3383 \| ICAM1 \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 7879 \| RAB7A \| DISEASES 793 \| CALB1 \| DISEASES 3073 \| HEXA \| DISEASES 4864 \| NPC1 \| DISEASES 285362 \| SUMF1 \| DISEASES 2893 \| GRIA4 \| DISEASES 23643 \| LY96 \| DISEASES 351 \| APP \| DISEASES 5018 \| OXA1L \| DISEASES 3156 \| HMGCR \| DISEASES 29881 \| NPC1L1 \| DISEASES 3060 \| HCRT \| DISEASES 134429 \| STARD4 \| DISEASES 84889 \| SLC7A3 \| DISEASES 2350 \| FOLR2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 1200 \| TPP1 \| DISEASES 3308 \| HSPA4 \| DISEASES 8436 \| SDPR \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 7368 \| UGT8 \| DISEASES 5319 \| PLA2G1B \| DISEASES 2629 \| GBA \| DISEASES 4018 \| LPA \| DISEASES 284359 \| IZUMO1 \| DISEASES 5271 \| SERPINB8 \| DISEASES 10227 \| MFSD10 \| DISEASES 256933 \| NPB \| DISEASES 3916 \| LAMP1 \| DISEASES 3043 \| HBB \| DISEASES 3988 \| LIPA \| DISEASES 3141 \| HLCS \| DISEASES 9679 \| FAM53B \| DISEASES 857 \| CAV1 \| DISEASES 6609 \| SMPD1 \| DISEASES 8717 \| TRADD \| DISEASES 2583 \| B4GALNT1 \| DISEASES 1508 \| CTSB \| DISEASES 57515 \| SERINC1 \| DISEASES 9514 \| GAL3ST1 \| DISEASES 3638 \| INSIG1 \| DISEASES 347 \| APOD \| DISEASES 6720 \| SREBF1 \| DISEASES 5625 \| PRODH \| DISEASES 2760 \| GM2A \| DISEASES 64919 \| BCL11B \| DISEASES 257194 \| NEGR1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 51454 \| GULP1 \| DISEASES 6721 \| SREBF2 \| DISEASES 5742 \| PTGS1 \| DISEASES 1118 \| CHIT1 \| DISEASES 5321 \| PLA2G4A \| DISEASES 6646 \| SOAT1 \| DISEASES 10924 \| SMPDL3A \| DISEASES 4082 \| MARCKS \| DISEASES 5710 \| PSMD4 \| DISEASES 1520 \| CTSS \| DISEASES 5309 \| PITX3 \| DISEASES 89885 \| FATE1 \| DISEASES 1718 \| DHCR24 \| DISEASES 27069 \| GHITM \| DISEASES 5476 \| CTSA \| DISEASES 7099 \| TLR4 \| DISEASES 7357 \| UGCG \| DISEASES 19 \| ABCA1 \| DISEASES 2512 \| FTL \| DISEASES 54840 \| APTX \| DISEASES 2665 \| GDI2 \| DISEASES 7054 \| TH \| DISEASES 427 \| ASAH1 \| DISEASES 11202 \| KLK8 \| DISEASES 1267 \| CNP \| DISEASES 5660 \| PSAP \| DISEASES 4668 \| NAGA \| DISEASES 146713 \| RBFOX3 \| DISEASES 5229 \| PGGT1B \| DISEASES 2632 \| GBE1 \| DISEASES 1020 \| CDK5 \| DISEASES 9367 \| RAB9A \| DISEASES 84000 \| TMPRSS13 \| DISEASES 53373 \| TPCN1 \| DISEASES 10577 \| NPC2 \| DISEASES 2108 \| ETFA \| DISEASES 348120 \| LINC01193 \| DISEASES 4555 \| MT-TD \| DISEASES
Locus	(Waiting for update.)

Disease ID	458
Disease	niemann-pick disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0002524 \| Cataplexy \| 2 HP:0003077 \| Hyperlipidemia \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0200023 \| Priapism \| 1 HP:0001399 \| Liver failure \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0002180 \| Neurodegeneration \| 1

Disease ID	458
Disease	niemann-pick disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:19) C1512411 \| hepatocellular carcinoma C1291474 \| deficiency of phospholipase c C1274778 \| nodular panniculitis C0748159 \| pulmonary involvement C0546982 \| meconium ileus C0376480 \| gingival enlargement C0277792 \| pathognomonic sign C0268242 \| sphingomyelinase deficiency C0162538 \| selective iga deficiency C0085078 \| lysosomal storage disorders C0043324 \| juvenile xanthogranuloma C0042075 \| urologic disease C0037284 \| skin lesions C0029443 \| osteomyelitis C0024115 \| lung disease C0021831 \| enteropathy C0017919 \| glycogen storage disease C0008370 \| cholestasis C0007384 \| cataplexy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0007384 \| cataplexy \| 2 C0028064 \| sphingomyelinase deficiency \| 1 C0085078 \| lysosomal storage disorders \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1050228	25811928	6609	SMPD1	umls:C0028064	BeFree	Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).	0.266098146	2015	SMPD1	11	6390705	T	C
rs120074117	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6394204	G	A,T
rs120074118	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6394539	CGC	-
rs120074124	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6391976	T	C
rs120074126	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6393620	C	T
rs182812968	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6393981	C	T
rs370129081	9516458	6609	SMPD1	umls:C0028064	BeFree	For this purpose, we have used cultured Niemann-Pick disease (NPD) lymphoid cells with a defined mutation (R600H) in the aSMase protein.	0.266098146	1998	SMPD1	11	6394516	G	A
rs387906289	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6392061	C	-
rs398123478	23188845	6609	SMPD1	umls:C0028064	BeFree	We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.	0.266098146	2014	SMPD1	11	6394335	C	T
rs747342458	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6394445	G	A
rs797044797	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6391481	T	C
rs797044798	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6391657	G	C
rs797044799	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6391939	C	A
rs797044800	NA	6609	SMPD1	umls:C0028064	CLINVAR	NA	0.266098146	NA	SMPD1	11	6392141	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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