Human Phenotype Ontology

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 the cerebrospinal fluid (HP:0002921)

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

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

Term ID:

3785

Name:

Decreased CSF homovanillic acid

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 level (HP:0040207)

Abnormal CSF dopamine level (HP:0012654)

Abnormal CSF glucose level (HP:0031884)

Abnormal CSF lactate level (HP:0030085)

Abnormal CSF neopterin level (HP:0040203)

Decreased CSF 5-hydroxyindolacetic acid (HP:0025455)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Decreased level of erythritol in CSF (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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	GCH1 CL E G H	2643	98808				ORPHA	1	428	4193	600225
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	PNPO CL E G H	55163	79096				ORPHA	1	317	30260	603287
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	PNPO CL E G H	55163	610090	Pyridoxal 5'-phosphate-dependent epilepsy	610090	C1864723	OMIM	1	317	30260	603287
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0003785	HP:0003785	Decreased CSF homovanillic acid	0	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (4) :DDC GCH1 PNPO TH

Diseases (6) :608643 98808 79096 610090 101150 605407

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.