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:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Abnormal CSF metabolite concentration (HP:0025454)

..Starting node
..Decreased CSF homovanillic acid concentration (HP:0003785)

Term ID:

3785

Name:

Decreased CSF homovanillic acid concentration

Synonym:

Definition:

Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.

Comments:

Reference:

HP:0003785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF biopterin concentration (HP:0040207)

Abnormal CSF dopamine concentration (HP:0012654)

Abnormal CSF glucose concentration (HP:0031884)

Abnormal CSF lactate concentration (HP:0030085)

Abnormal CSF neopterin concentration (HP:0040203)

Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Decreased CSF erythritol concentration (HP:0410056)

Increased CSF interferon alpha (HP:0009709)

Increased level of D-threitol in CSF (HP:0410058)

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:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0003785	HP:0003785	Decreased CSF homovanillic acid concentration	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2

Genes (8) :DDC GCH1 IMPDH2 NGLY1 NR4A2 PNPO TH TSPOAP1

Diseases (8) :OMIM:608643 ORPHA:98808 ORPHA:404454 OMIM:619911 ORPHA:79096 OMIM:610090 ORPHA:101150 OMIM:605407

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