PedAM

Pediatric Disease Annotations & Medicines


	tay-sachs disease

Disease ID	106
Disease	tay-sachs disease
Definition	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Synonym	b variant gm2 gangliosidosis b variant gm2-gangliosidoses b variant gm2-gangliosidosis defic dis hexosaminidase a deficiency disease hexosaminidase a deficiency hexosaminidase disease sach tay disease sach's tay disease sachs tay disease tay sach disease tay sachs disease tay-sachs disease, tay-sachs diseases sachs tay diseases sachs tays diseases tay sachs g(m2) gangliosidosis, type i gangliosidosis g(m2), type i gangliosidosis gm 02 b variant gangliosidosis gm 02 type i gangliosidosis gm2 , type 1 gangliosidosis gm2 type 1 gangliosidosis gm2 type i gangliosidosis gm2, b variant gangliosidosis gm2, type i gm gangliosidosis 02 type i gm2 gangliosidosis type i gm2 gangliosidosis, b variant gm2 gangliosidosis, type 1 gm2 gangliosidosis, type i gm2-gangliosidosis, b variant gm2-gangliosidosis, type i gm₂ gangliosidosis, type 1 gm>2< gangliosidosis, type 1 hexa deficiency hexosaminidase a defic dis hexosaminidase a deficiency hexosaminidase a deficiency disease infantile ganglioside lipidosis lipidosis, ganglioside, infantile severe hexosaminidase a deficiency sphingolipidosis, tay sachs sphingolipidosis, tay-sachs tay sach's disease tay sachs dis tay sachs disease tay sachs disease, b variant tay-sachs disease (disorder) tay-sachs disease [disease/finding] tay-sachs disease, b variant tay-sachs sphingolipidosis tsd type i gm2-gangliosidosis
Orphanet	ORPHANET:845
OMIM	OMIM:272800
DOID	DOID:3320
ICD10	ICD10CM:E75.02
UMLS	C0039373
MeSH	D013661
SNOMED-CT	SNOMEDCT_US_2016_09_01:111385000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0236642 \| pick disease \| 2 C0028064 \| niemann-pick disease \| 2 C0023522 \| metachromatic leukodystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) HEXA \| 3073 \| CLINVAR;CTD_human;UNIPROT;GHR GM2A \| 2760 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3073 \| HEXA \| infer 3074 \| HEXB \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:60) 4074 \| M6PR \| DISEASES 8935 \| SKAP2 \| DISEASES 410 \| ARSA \| DISEASES 7942 \| TFEB \| DISEASES 7903 \| ST8SIA4 \| DISEASES 4759 \| NEU2 \| DISEASES 3425 \| IDUA \| DISEASES 53 \| ACP2 \| DISEASES 3832 \| KIF11 \| DISEASES 3074 \| HEXB \| DISEASES 57679 \| ALS2 \| DISEASES 3371 \| TNC \| DISEASES 4986 \| OPRK1 \| DISEASES 4885 \| NPTX2 \| DISEASES 3073 \| HEXA \| DISEASES 5428 \| POLG \| DISEASES 285362 \| SUMF1 \| DISEASES 3087 \| HHEX \| DISEASES 10825 \| NEU3 \| DISEASES 178 \| AGL \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 4884 \| NPTX1 \| DISEASES 6620 \| SNCB \| DISEASES 51228 \| GLTP \| DISEASES 64231 \| MS4A6A \| DISEASES 274 \| BIN1 \| DISEASES 4351 \| MPI \| DISEASES 129807 \| NEU4 \| DISEASES 8706 \| B3GALNT1 \| DISEASES 23467 \| NPTXR \| DISEASES 80789 \| INTS5 \| DISEASES 10871 \| CD300C \| DISEASES 5367 \| PMCH \| DISEASES 5521 \| PPP2R2B \| DISEASES 1798 \| DPAGT1 \| DISEASES 3476 \| IGBP1 \| DISEASES 3482 \| IGF2R \| DISEASES 2760 \| GM2A \| DISEASES 280 \| AMY2B \| DISEASES 10724 \| MGEA5 \| DISEASES 55157 \| DARS2 \| DISEASES 5730 \| PTGDS \| DISEASES 5476 \| CTSA \| DISEASES 229 \| ALDOB \| DISEASES 4758 \| NEU1 \| DISEASES 54840 \| APTX \| DISEASES 26278 \| SACS \| DISEASES 2706 \| GJB2 \| DISEASES 8301 \| PICALM \| DISEASES 5660 \| PSAP \| DISEASES 174 \| AFP \| DISEASES 4668 \| NAGA \| DISEASES 85300 \| ATCAY \| DISEASES 2632 \| GBE1 \| DISEASES 643680 \| MS4A4E \| DISEASES 51366 \| UBR5 \| DISEASES 3748 \| KCNC3 \| DISEASES 4850 \| CNOT4 \| DISEASES 2108 \| ETFA \| DISEASES
Locus	(Waiting for update.)

Disease ID	106
Disease	tay-sachs disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:32) HP:0009058 \| Increased muscle lipid content HP:0001263 \| Global developmental delay HP:0002353 \| EEG abnormality HP:0004374 \| Hemiplegia/hemiparesis HP:0002361 \| Psychomotor deterioration HP:0002361 \| Psychomotor degeneration HP:0001251 \| Ataxia HP:0001252 \| Hypotonia HP:0001744 \| Splenomegaly HP:0001250 \| Seizures HP:0002267 \| Exaggerated startle response HP:0000618 \| Blindness HP:0000365 \| Hearing impairment HP:0001257 \| Spasticity HP:0001252 \| Muscular hypotonia HP:0002376 \| Developmental regression HP:0002240 \| Hepatomegaly HP:0010729 \| Macular cherry red spot HP:0000505 \| Visual impairment HP:0000726 \| Dementia HP:0006887 \| Intellectual disability, progressive HP:0000256 \| Macrocephaly HP:0003495 \| GM2-ganglioside accumulation HP:0002421 \| Poor head control HP:0001347 \| Hyperreflexia HP:0002205 \| Recurrent respiratory infections HP:0000741 \| Apathy HP:0002835 \| Aspiration HP:0100022 \| Abnormality of movement HP:0000648 \| Optic atrophy HP:0010729 \| Cherry red spot of the macula HP:0002486 \| Myotonia
Text Mined Phenotype	(Waiting for update.)

Disease ID	106
Disease	tay-sachs disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0036161 \| o variant
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:52)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907952	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345528	C	T
rs121907954	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72350518	C	T
rs121907957	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353129	C	T
rs121907958	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346597	C	G
rs121907960	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349153	GAA	-
rs121907961	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351176	G	A
rs121907962	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72355562	G	A
rs121907963	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346680	G	A
rs121907964	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375895	C	T
rs121907965	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375972	T	G,C
rs121907966	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345477	G	A
rs121907968	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345519	A	G
rs121907969	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353098	G	C,A
rs121907970	1384323	3073	HEXA	umls:C0039373	BeFree	We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.	0.470660457	1992	HEXA	15	72350584	G	A
rs121907972	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353130	G	A
rs121907974	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351173	A	G
rs121907975	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72355591	A	C
rs121907976	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351194	T	C
rs121907977	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349163	A	C
rs121907978	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346296	C	T
rs121907979	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375857	A	C
rs147324677	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346234	C	G
rs1800429	1825792	3073	HEXA	umls:C0039373	UNIPROT	The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.	0.470660457	1991	HEXA	15	72351207	C	T
rs1800429	9090523	3073	HEXA	umls:C0039373	UNIPROT	Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.	0.470660457	1997	HEXA	15	72351207	C	T
rs199578185	14566483	3073	HEXA	umls:C0039373	UNIPROT	Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.	0.470660457	2003	HEXA	15	72349181	T	C
rs200926928	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349076	T	C
rs267606862	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346681	C	T
rs28940871	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346305	G	C
rs28941770	9090523	3073	HEXA	umls:C0039373	UNIPROT	Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.	0.470660457	1997	HEXA	15	72353105	C	T,G,A
rs28941770	1825792	3073	HEXA	umls:C0039373	UNIPROT	The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.	0.470660457	1991	HEXA	15	72353105	C	T,G,A
rs28941770	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353105	C	T,G,A
rs28941771	8757036	3073	HEXA	umls:C0039373	UNIPROT	Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life.	0.470660457	1996	HEXA	15	72353100	A	G
rs28942071	1837283	3073	HEXA	umls:C0039373	UNIPROT	Total RNA was isolated from cultured fibroblasts from 12 unrelated patients with Tay-Sachs disease, an autosomal recessive disorder due to beta-hexosaminidase A deficiency. beta-Hexosaminidase mRNA was amplified by cDNA-PCR in four overlapping segments spanning the entire coding sequence.	0.470660457	1991	HEXA	15	72345462	G	A
rs28942071	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345462	G	A
rs370266293	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346679	C	T
rs387906309	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346579	-	GATA
rs387906949	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375800	C	T,A
rs587779405	NA	2760	GM2A	umls:C0039373	CLINVAR	NA	0.120542884	NA	GM2A	5	151266820	C	-
rs587779406	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346552	G	A
rs587779407	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72350604	-	A
rs748190164	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72356531	C	G
rs76173977	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72348047	C	T
rs766138785	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72347709	C	-
rs770932296	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349266	C	T
rs777042785	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346549	TA	-
rs778155650	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349148	AAG	-
rs786204515	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349117	-	T
rs786204585	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72344139	G	A
rs786204721	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375971	A	G
rs786204754	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353067	C	T
rs797044432	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72356524	C	G
rs797044433	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345462	G	-

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia;HP:0100022	Abnormality of movement

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004374	Hemiplegia/hemiparesis	MP:0000010	abnormal abdominal fat pad morphology;HP:0002311	Incoordination

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.)