Human Phenotype Ontology

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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 alkaline phosphatase level (HP:0004379)

Parent Node:
Elevated circulating alkaline phosphatase concentration (HP:0003155)

..Starting node
..Elevated tissue non-specific alkaline phosphatase (HP:0010679)

Term ID:

10679

Name:

Elevated tissue non-specific alkaline phosphatase

Synonym:

Elevated alkaline phosphatase, liver/bone/kidney; Elevated tissue non-specific ALP

Definition:

An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

Comments:

Reference:

HP:0010679

Genes and Diseases:

Child Nodes:

........

Elevated alkaline phosphatase of hepatic origin (HP:0010638)

........

Elevated alkaline phosphatase of bone origin (HP:0010639)

........

Elevated alkaline phosphatase of renal origin (HP:0010680)

Sister Nodes:

Elevated intestinal alkaline phosphatase (HP:0010681)

Elevated leukocyte alkaline phosphatase (HP:0008318)

Elevated placental alkaline phosphatase (HP:0010682)

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:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2		47
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0010679	HP:0010679	Elevated tissue non-specific alkaline phosphatase	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0010679	HP:0010680	Elevated alkaline phosphatase of renal origin	1	CL E G H
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0010679	HP:0010638	Elevated alkaline phosphatase of hepatic origin	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0010679	HP:0010638	Elevated alkaline phosphatase of hepatic origin	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010679	HP:0010638	Elevated alkaline phosphatase of hepatic origin	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0010679	HP:0010638	Elevated alkaline phosphatase of hepatic origin	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0010679	HP:0010639	Elevated alkaline phosphatase of bone origin	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63

Genes (16) :ABCC6 CCDC115 CTNS CYP27B1 CYP2R1 DMP1 ENPP1 ESR1 GPR35 MST1 NPR3 SEMA4D SLC34A1 SLC34A3 TCF4 VCP

Diseases (11) :ORPHA:51608 OMIM:616828 ORPHA:411634 ORPHA:289157 ORPHA:289176 ORPHA:785 ORPHA:171 OMIM:619543 OMIM:613388 ORPHA:157215 OMIM:167320

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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