Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating aromatic amino acid concentration (HP:0004338)

..Starting node
..Abnormal circulating phenylalanine concentration (HP:0010893)

Term ID:

10893

Name:

Abnormal circulating phenylalanine concentration

Synonym:

Abnormality of phenylalanine metabolism

Definition:

Any deviation from the normal concentration of phenylalanine in the blood circulation.

Comments:

Reference:

HP:0010893

Genes and Diseases:

Child Nodes:

........

Positive ferric chloride test (HP:0003612)

........

Atypical hyperphenylalaninemia (HP:0004922)

........

Hyperphenylalaninemia (HP:0004923)

........

Reduced phenylalanine hydroxylase activity (HP:0005982)

........

Transient hyperphenylalaninemia (HP:0008297)

........

Maternal hyperphenylalaninemia (HP:0100610)

Sister Nodes:

Abnormal circulating tryptophan concentration (HP:0004365)

Abnormal circulating tyrosine concentration (HP:0010917)

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:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria		641
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency		24
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0010893	HP:0010893	Abnormal circulating phenylalanine concentration	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0010893	HP:0500141	Hypophenylalaninemia	1	CL E G H
HP:0010893	HP:0100610	Maternal hyperphenylalaninemia	1	CL E G H
HP:0010893	HP:0004922	Atypical hyperphenylalaninemia	1	CL E G H
HP:0010893	HP:0003612	Positive ferric chloride test	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	.	86
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040281 - Very frequent	641
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D		24
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040281 - Very frequent	24
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0010893	HP:0004923	Hyperphenylalaninemia	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0010893	HP:0008297	Transient hyperphenylalaninemia	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28

Genes (9) :FTCD GCH1 IMPDH2 NR4A2 PAH PCBD1 PTS QDPR SPR

Diseases (10) :OMIM:229100 ORPHA:98808 OMIM:128230 OMIM:233910 ORPHA:79254 OMIM:264070 ORPHA:1578 OMIM:261640 OMIM:261630 OMIM:612716

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen