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	niemann-pick disease type a

Disease ID	620
Disease	niemann-pick disease type a
Definition	The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Synonym	cholesterol lipidoses, neuronal cholesterol lipidoses, sphingomyelin cholesterol lipidosis, neuronal cholesterol lipidosis, sphingomyelin classical niemann pick dis classical niemann pick disease classical niemann-pick disease deficiencies, sphingomyelinase deficiency, sphingomyelinase lipidoses, neuronal cholesterol lipidoses, sphingomyelin lipidoses, sphingomyelin cholesterol lipidosis, neuronal cholesterol lipidosis, sphingomyelin cholesterol neuronal cholesterol lipidoses niemann pick dis acute neuronopathic form niemann pick dis acute neurovisceral form niemann pick dis neuronopathic type niemann pick dis type a niemann pick disease, acute neuronopathic form niemann pick disease, acute neurovisceral form niemann pick disease, neuronopathic type niemann pick disease, type a niemann pick's disease type a niemann picks dis type a niemann-pick disease neuropathic type niemann-pick disease type niemann-pick disease, acute neuronopathic form niemann-pick disease, acute neuropathic form niemann-pick disease, acute neurovisceral form niemann-pick disease, classical niemann-pick disease, neuronopathic type niemann-pick disease, type a niemann-pick disease, type a (disorder) niemann-pick disease, type a [disease/finding] niemann-pick's disease type a ophthalmoplegia, supraoptic vertical ophthalmoplegias, supraoptic vertical sphingomyelin cholesterol lipidoses sphingomyelin cholesterol lipidosis sphingomyelin lipidoses sphingomyelinase defic dis sphingomyelinase deficiencies sphingomyelinase deficiency disease sphingomyelinase deficiency diseases supraoptic vertical ophthalmoplegias type a niemann pick dis type a niemann pick disease type a niemann-pick disease vertical ophthalmoplegia, supraoptic vertical ophthalmoplegias, supraoptic
Orphanet	ORPHANET:77292
OMIM	OMIM:257200
DOID	DOID:14504
ICD10	ICD10CM:E75.240
UMLS	C0268242
MeSH	D052536
SNOMED-CT	SNOMEDCT_US_2016_09_01:52165006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0021053 \| immune dysfunction \| 1 C0008370 \| cholestasis \| 1 C0027121 \| myositis \| 1 C0027765 \| neurological disease \| 1 C0027122 \| myositis ossificans \| 1 C0027765 \| neurological disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6609 \| SMPD1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) SMPD1 \| 11p15.4

Disease ID	620
Disease	niemann-pick disease type a
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002524 \| Cataplexy \| 2 HP:0002015 \| Swallowing difficulty \| 1 HP:0001396 \| Cholestasis \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0002180 \| Neurodegeneration \| 1

Disease ID	620
Disease	niemann-pick disease type a
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:4)
Gene	Mutation	DOI	Article Title
SMPD1	p.R497L	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
SMPD1	p.R610del3350,51	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
SMPD1	c.996delC	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
SMPD1	p.L304P	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

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

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs120074117	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6394204	G	A,T
rs120074119	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6394446	G	A
rs120074120	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391853	T	A
rs120074121	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393276	G	A
rs120074124	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391976	T	C
rs120074127	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393680	C	G,T
rs120074128	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391945	C	A
rs182812968	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393981	C	T
rs267607074	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393961	A	C
rs267607075	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6394006	C	A,T
rs370129081	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6394516	G	A
rs387906289	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6392061	C	-
rs398123479	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391822	G	C
rs587779408	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391804	G	A
rs727504166	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391540	T	C
rs753508874	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393985	C	T
rs756366019	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391623	-	C,T
rs786204506	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6390694	G	A
rs786204514	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6393235	CT	-
rs786204694	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391603	TT	-
rs786204733	NA	6609	SMPD1	umls:C0268242	CLINVAR	NA	0.562171535	NA	SMPD1	11	6391583	-	T

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.)

Disease ID	620
Disease	niemann-pick disease type a
Case	(Waiting for update.)