PedAM

Pediatric Disease Annotations & Medicines


	hypobetalipoproteinemia

Disease ID	1017
Disease	hypobetalipoproteinemia
Definition	Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
Synonym	familial hypobetalipoproteinemia hypo beta lipoproteinemia hypo beta lipoproteinemias hypo-beta-lipoproteinaemia hypo-beta-lipoproteinemia hypo-beta-lipoproteinemia (disorder) hypobetalipoproteinemias hypobetalipoproteinemias [disease/finding]
Orphanet	ORPHANET:31154
DOID	DOID:1390 DOID:1386
UMLS	C0020597
MeSH	D006995
SNOMED-CT	SNOMEDCT_US_2016_09_01:190786004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0024523 \| malabsorption \| 1 C0037773 \| hereditary spastic paraplegia \| 1 C0023890 \| cirrhosis \| 1 C0011991 \| diarrhea \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) APOB \| 338 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 338 \| APOB \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 345 \| APOC3 \| DISEASES 7035 \| TFPI \| DISEASES 338 \| APOB \| DISEASES 335 \| APOA1 \| DISEASES 348 \| APOE \| DISEASES 341 \| APOC1 \| DISEASES 9388 \| LIPG \| DISEASES 949 \| SCARB1 \| DISEASES 80208 \| SPG11 \| DISEASES 3931 \| LCAT \| DISEASES 4547 \| MTTP \| DISEASES 5045 \| FURIN \| DISEASES 81628 \| TSC22D4 \| DISEASES 255738 \| PCSK9 \| DISEASES 4023 \| LPL \| DISEASES 4018 \| LPA \| DISEASES 6432 \| SRSF7 \| DISEASES 6906 \| SERPINA7 \| DISEASES 7127 \| TNFAIP2 \| DISEASES 2266 \| FGG \| DISEASES 50488 \| MINK1 \| DISEASES 23230 \| VPS13A \| DISEASES 9619 \| ABCG1 \| DISEASES 22796 \| COG2 \| DISEASES 336 \| APOA2 \| DISEASES 9557 \| CHD1L \| DISEASES 27329 \| ANGPTL3 \| DISEASES 5476 \| CTSA \| DISEASES 51128 \| SAR1B \| DISEASES 54625 \| PARP14 \| DISEASES 2972 \| BRF1 \| DISEASES 344 \| APOC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1017
Disease	hypobetalipoproteinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0011900 \| Hypofibrinogenemia \| 1 HP:0002028 \| Chronic diarrhea \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0002014 \| Diarrhea \| 1

Disease ID	1017
Disease	hypobetalipoproteinemia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918383	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21013379	G	C,A
rs121918384	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21011301	AC	-
rs121918385	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21003241	C	-
rs121918386	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21010615	G	A
rs121918387	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21007669	T	-
rs121918389	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21012439	G	A
rs121918390	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21009304	G	A
rs281865425	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21011602	TGTT	-
rs3816873	14732481	4547	MTTP	umls:C0020597	BeFree	MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia.	0.00408156	2004	MTTP	4	99583507	T	C
rs387906569	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21004451	C	-
rs397514255	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21011405	C	-
rs397514256	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21012516	C	-
rs587776852	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21005156	G	-
rs606231236	NA	338	APOB	umls:C1862596	CLINVAR	NA	0.256286512	NA	APOB	2	21033517	-	CC
rs61750974	14732481	4547	MTTP	umls:C0020597	BeFree	MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia.	0.00408156	2004	MTTP	4	99591235	G	A
rs797045253	NA	338	APOB	umls:C0020597	CLINVAR	NA	0.170611248	NA	APOB	2	21002397	G	-

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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