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

CHLA_Logo

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

Human Phenotype Ontology

Grandparent Node:
Phenotypic abnormality (HP:0000118)

help

Parent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

help

..Starting node
..Abnormal circulating porphyrin concentration (HP:0010472)

help

Term ID:

10472

Name:

Abnormal circulating porphyrin concentration

Synonym:

Definition:

An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

........

Elevated urinary delta-aminolevulinic acid (HP:0003163)

help

........

Porphyrinuria (HP:0010473)

help

........

Increased erythrocyte protoporphyrin concentration (HP:0012187)

help

........

Increased urinary porphobilinogen (HP:0012217)

help

Sister Nodes:

..

Abnormal blood ion concentration (HP:0003111)

help

..

Abnormal calcium-phosphate regulating hormone level (HP:0100530)

help

..

Abnormal cellular physiology (HP:0011017)

help

..

Abnormal circulating carbohydrate concentration (HP:0011013)

help

..

Abnormal circulating carboxylic acid concentration (HP:0004354)

help

..

Abnormal circulating lipid concentration (HP:0003119)

help

..

Abnormal circulating nitrogen compound concentration (HP:0004364)

help

..

Abnormal circulating nucleobase concentration (HP:0010932)

help

..

Abnormal circulating protein concentration (HP:0010876)

help

..

Abnormal circulating selenium concentration (HP:0031903)

help

..

Abnormal enzyme/coenzyme activity (HP:0012379)

help

..

Abnormal erythrocyte sedimentation rate (HP:0025021)

help

..

Abnormal homeostasis (HP:0012337)

help

..

Abnormal sweat homeostasis (HP:0040127)

help

..

Abnormality of acid-base homeostasis (HP:0004360)

help

..

Abnormality of fluid regulation (HP:0011032)

help

..

Abnormality of Krebs cycle metabolism (HP:0000816)

help

..

Abnormality of superoxide metabolism (HP:0004358)

help

..

Abnormality of temperature regulation (HP:0004370)

help

..

Abnormality of urine homeostasis (HP:0003110)

help

..

Abnormality of vitamin metabolism (HP:0100508)

help

..

Amyloidosis (HP:0011034)

help

..

Bloodstream infectious agent (HP:0031863)

help

..

Food intolerance (HP:0012537)

help

..

Gangrene (HP:0100758)

help

..

Hyperbilirubinemia (HP:0002904)

help

..

Increased level of propylene glycol in blood (HP:0410069)

help

..

Ketosis (HP:0001946)

help

..

Molybdenum cofactor deficiency (HP:0003570)

help

..

obsolete Abnormality of glycoprotein metabolism (HP:0004367)

help

..

Presence of xenobiotic (HP:0031838)

help

..

Reduced 5-oxoprolinase level (HP:0040142)

help

..

Reduced acetaldehyde dehydrogenase level (HP:0003533)

help

..

Reduced glutathione synthetase level (HP:0003343)

help

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent			62
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked				72
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040281 - Very frequent			72
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040281 - Very frequent			145
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent			29
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent			41
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent			31
HP:0010472	HP:0010472	Abnormal circulating porphyrin concentration	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent			41
HP:0010472	HP:0012187	Increased erythrocyte protoporphyrin concentration	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent			62
HP:0010472	HP:0012187	Increased erythrocyte protoporphyrin concentration	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked				72
HP:0010472	HP:0012187	Increased erythrocyte protoporphyrin concentration	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent			29
HP:0010472	HP:0012187	Increased erythrocyte protoporphyrin concentration	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent			41

Genes (8) :ALAD ALAS2 CPOX FECH GATA1 PPOX UROD UROS

Diseases (7) :ORPHA:100924 OMIM:300752 ORPHA:79273 ORPHA:79278 ORPHA:79277 ORPHA:79473 ORPHA:95159

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

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

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