Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of vitamin metabolism (HP:0100508)

Parent Node:
Abnormality of vitamin E metabolism (HP:0100514)

..Starting node
..Low levels of vitamin E (HP:0100513)

Term ID:

100513

Name:

Low levels of vitamin E

Synonym:

Alpha-tocopherol deficiency; Vitamin E deficiency

Definition:

A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.

Comments:

Reference:

HP:0100513

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100513	HP:0100513	Low levels of vitamin E	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0100513	HP:0100513	Low levels of vitamin E	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0100513	HP:0100513	Low levels of vitamin E	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0100513	HP:0100513	Low levels of vitamin E	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0100513	HP:0100513	Low levels of vitamin E	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0100513	HP:0100513	Low levels of vitamin E	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0100513	HP:0100513	Low levels of vitamin E	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100513	HP:0100513	Low levels of vitamin E	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100513	HP:0100513	Low levels of vitamin E	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040281 - Very frequent	81
HP:0100513	HP:0100513	Low levels of vitamin E	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0100513	HP:0100513	Low levels of vitamin E	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0100513	HP:0100513	Low levels of vitamin E	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100513	HP:0100513	Low levels of vitamin E	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0100513	HP:0100513	Low levels of vitamin E	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0100513	HP:0100513	Low levels of vitamin E	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0100513	HP:0100513	Low levels of vitamin E	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100513	HP:0100513	Low levels of vitamin E	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62

Genes (17) :AKR1D1 APOB DNAJC21 DZIP1L EFL1 FOCAD GPR35 MST1 MTTP PKHD1 SBDS SEMA4D SLC30A10 SLC51B SRP54 TCF4 TTPA

Diseases (10) :ORPHA:79303 OMIM:615558 ORPHA:811 ORPHA:731 OMIM:619991 ORPHA:171 ORPHA:14 ORPHA:309854 OMIM:619481 OMIM:277460

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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