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:
Abnormal circulating aspartate family amino acid concentration (HP:0010899)

Grandparent Node:
Abnormal circulating sulfur amino acid concentration (HP:0004339)

Parent Node:
Abnormal circulating methionine concentration (HP:0010901)

..Starting node
..Hypermethioninemia (HP:0003235)

Term ID:

3235

Name:

Hypermethioninemia

Synonym:

Increased methionine in blood; Methioninemia

Definition:

An increased concentration of methionine in the blood.

Comments:

Reference:

HP:0003235

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased methionine synthase activity (HP:0003524)

Hypomethioninemia (HP:0003658)

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:0003235	HP:0003235	Hypermethioninemia	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0003235	HP:0003235	Hypermethioninemia	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0003235	HP:0003235	Hypermethioninemia	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0003235	HP:0003235	Hypermethioninemia	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0003235	HP:0003235	Hypermethioninemia	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0003235	HP:0003235	Hypermethioninemia	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.	3
HP:0003235	HP:0003235	Hypermethioninemia	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0003235	HP:0003235	Hypermethioninemia	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0003235	HP:0003235	Hypermethioninemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003235	HP:0003235	Hypermethioninemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82

Genes (8) :ADK AHCY CBS FAH GNMT MAT1A SKIC3 SLC25A13

Diseases (10) :OMIM:614300 OMIM:613752 ORPHA:88618 OMIM:236200 OMIM:276700 OMIM:606664 OMIM:250850 OMIM:222470 OMIM:605814 ORPHA:247598

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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