PedAM

Pediatric Disease Annotations & Medicines


	acanthocytosis

Disease ID	1019
Disease	acanthocytosis
Definition	An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Synonym	abetalipoproteinaemia abetalipoproteinemia abetalipoproteinemia (disorder) abetalipoproteinemia (disorder) [ambiguous] abetalipoproteinemia [disease/finding] abl abl - abetalipoproteinaemia abl - abetalipoproteinemia acanthocytoses bassen kornzweig dis bassen kornzweig disease bassen kornzweig syndrome bassen-kornzweig disease bassen-kornzweig syndrome betalipoprotein deficiency disease betalipoprotein deficiency diseases deficiency disease, betalipoprotein deficiency diseases, betalipoprotein disease, betalipoprotein deficiency diseases, betalipoprotein deficiency microsomal triglyceride transfer protein defic microsomal triglyceride transfer protein defic dis microsomal triglyceride transfer protein deficiency microsomal triglyceride transfer protein deficiency disease mtp deficiency
Orphanet	ORPHANET:14
OMIM	OMIM:200100
DOID	DOID:1386
UMLS	C0000744
MeSH	D000012
SNOMED-CT	SNOMEDCT_US_2016_09_01:190787008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0002871 \| anemia \| 1 C0026848 \| myopathy \| 1 C0002878 \| hemolytic anemia \| 1 C0007642 \| cellulitis \| 1 C0878544 \| cardiomyopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) MTTP \| 4547 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT APOB \| 338 \| GHR PCSK9 \| 255738 \| GHR ANGPTL3 \| 27329 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:70) 1071 \| CETP \| DISEASES 23064 \| SETX \| DISEASES 116519 \| APOA5 \| DISEASES 345 \| APOC3 \| DISEASES 339 \| APOBEC1 \| DISEASES 338 \| APOB \| DISEASES 335 \| APOA1 \| DISEASES 6626 \| SNRPA \| DISEASES 821 \| CANX \| DISEASES 348 \| APOE \| DISEASES 341 \| APOC1 \| DISEASES 23175 \| LPIN1 \| DISEASES 7274 \| TTPA \| DISEASES 64240 \| ABCG5 \| DISEASES 949 \| SCARB1 \| DISEASES 80208 \| SPG11 \| DISEASES 64788 \| LMF1 \| DISEASES 671 \| BPI \| DISEASES 3931 \| LCAT \| DISEASES 3938 \| LCT \| DISEASES 9595 \| CYTIP \| DISEASES 5443 \| POMC \| DISEASES 4547 \| MTTP \| DISEASES 4885 \| NPTX2 \| DISEASES 1436 \| CSF1R \| DISEASES 29881 \| NPC1L1 \| DISEASES 2168 \| FABP1 \| DISEASES 5267 \| SERPINA4 \| DISEASES 10999 \| SLC27A4 \| DISEASES 255738 \| PCSK9 \| DISEASES 4023 \| LPL \| DISEASES 4245 \| MGAT1 \| DISEASES 4018 \| LPA \| DISEASES 5034 \| P4HB \| DISEASES 338328 \| GPIHBP1 \| DISEASES 8694 \| DGAT1 \| DISEASES 3988 \| LIPA \| DISEASES 3141 \| HLCS \| DISEASES 94241 \| TP53INP1 \| DISEASES 31 \| ACACA \| DISEASES 1811 \| SLC26A3 \| DISEASES 3792 \| KEL \| DISEASES 50488 \| MINK1 \| DISEASES 83658 \| DYNLRB1 \| DISEASES 337 \| APOA4 \| DISEASES 23230 \| VPS13A \| DISEASES 7003 \| TEAD1 \| DISEASES 55157 \| DARS2 \| DISEASES 22796 \| COG2 \| DISEASES 336 \| APOA2 \| DISEASES 7391 \| USF1 \| DISEASES 910 \| CD1B \| DISEASES 9557 \| CHD1L \| DISEASES 27329 \| ANGPTL3 \| DISEASES 1056 \| CEL \| DISEASES 26119 \| LDLRAP1 \| DISEASES 19 \| ABCA1 \| DISEASES 978 \| CDA \| DISEASES 2395 \| FXN \| DISEASES 54840 \| APTX \| DISEASES 26278 \| SACS \| DISEASES 53635 \| PTOV1 \| DISEASES 10525 \| HYOU1 \| DISEASES 51128 \| SAR1B \| DISEASES 10062 \| NR1H3 \| DISEASES 85300 \| ATCAY \| DISEASES 279 \| AMY2A \| DISEASES 54625 \| PARP14 \| DISEASES 3949 \| LDLR \| DISEASES 344 \| APOC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1019
Disease	acanthocytosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0100022 \| Movement disorder \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0001903 \| Anemia \| 1 HP:0002910 \| Elevated transaminases \| 1 HP:0007373 \| Motor neuron atrophy \| 1 HP:0001927 \| Acanthocytosis \| 1 HP:0001878 \| Haemolytic anaemia \| 1

Disease ID	1019
Disease	acanthocytosis
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:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs146064714	NA	4547	MTTP	umls:C0000744	CLINVAR	NA	0.490867606	NA	MTTP	4	99622756	G	T
rs199422219	NA	4547	MTTP	umls:C0000744	CLINVAR	NA	0.490867606	NA	MTTP	4	99611156	C	T
rs199422220	NA	4547	MTTP	umls:C0000744	CLINVAR	NA	0.490867606	NA	MTTP	4	99608827	G	A
rs199422221	NA	4547	MTTP	umls:C0000744	CLINVAR	NA	0.490867606	NA	MTTP	4	99619094	A	T
rs199422222	NA	4547	MTTP	umls:C0000744	CLINVAR	NA	0.490867606	NA	MTTP	4	99608977	G	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.)

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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