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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating carboxylic acid concentration (HP:0004354)

..Starting node
..Abnormality of amino acid metabolism (HP:0004337)

Term ID:

4337

Name:

Abnormality of amino acid metabolism

Synonym:

Amino acid levels abnormal

Definition:

Abnormality of an amino acid metabolic process.

Comments:

Reference:

HP:0004337

Genes and Diseases:

Child Nodes:

........

Abnormality of serum amino acid levels (HP:0003112)

................... HP:0002154 Hyperglycinemia
................... HP:0002161 Hyperlysinemia
................... HP:0003217 Hyperglutaminemia
................... HP:0003348 Hyperalaninemia
................... HP:0003354 Hyperthreoninemia
................... HP:0003658 Hypomethioninemia
................... HP:0012277 Hypoglycinemia
................... HP:0410053 Increased level of GABA in serum
................... HP:0410054 Decreased level of GABA in serum

........

Propionyl-CoA carboxylase deficiency (HP:0003353)

........

Aminoaciduria (HP:0003355)

................... HP:0002156 Homocystinuria
................... HP:0002909 Generalized aminoaciduria
................... HP:0002927 Histidinuria
................... HP:0003080 Hydroxyprolinuria
................... HP:0003108 Hyperglycinuria
................... HP:0003131 Cystinuria
................... HP:0003137 Prolinuria
................... HP:0003153 Cystathioninuria
................... HP:0003166 Increased urinary taurine
................... HP:0003167 Carnosinuria
................... HP:0003168 Dibasicaminoaciduria
................... HP:0003268 Argininuria
................... HP:0003296 Hyperthreoninuria
................... HP:0003297 Hyperlysinuria
................... HP:0003361 Tryptophanuria
................... HP:0003532 Ornithinuria
................... HP:0003535 3-Methylglutaconic aciduria
................... HP:0003648 Lacticaciduria
................... HP:0008273 Transient aminoaciduria
................... HP:0008335 Renal aminoaciduria
................... HP:0008336 Complex organic aciduria
................... HP:0008339 Diaminoaciduria
................... HP:0008353 Neutral hyperaminoaciduria
................... HP:0025376 Hyperglutaminuria
................... HP:0031870 Phosphohydroxylysinuria
................... HP:0045034 Elevated urinary aminoisobutyric acid

........

Abnormality of aromatic amino acid family metabolism (HP:0004338)

................... HP:0004365 Abnormality of tryptophan metabolism
................... HP:0010893 Abnormality of phenylalanine metabolism
................... HP:0010917 Abnormality of tyrosine metabolism

........

Abnormality of sulfur amino acid metabolism (HP:0004339)

................... HP:0003153 Cystathioninuria
................... HP:0003286 Cystathioninemia
................... HP:0003643 Sulfite oxidase deficiency
................... HP:0010901 Abnormality of methionine metabolism
................... HP:0010918 Abnormality of cysteine metabolism
................... HP:0010919 Abnormality of homocysteine metabolism

........

Abnormality of branched chain family amino acid metabolism (HP:0010892)

................... HP:0004357 Abnormality of leucine metabolism
................... HP:0008344 Elevated plasma branched chain amino acids
................... HP:0010912 Abnormality of isoleucine metabolism
................... HP:0010914 Abnormality of valine metabolism

........

Abnormality of aspartate family amino acid metabolism (HP:0010899)

................... HP:0010900 Abnormality of threonine metabolism
................... HP:0010901 Abnormality of methionine metabolism
................... HP:0010908 Abnormality of lysine metabolism

........

Abnormality of glutamine family amino acid metabolism (HP:0010902)

................... HP:0010903 Abnormality of glutamine metabolism
................... HP:0010907 Abnormality of proline metabolism
................... HP:0010909 Abnormality of arginine metabolism
................... HP:0410068 Increased level of L-glutamic acid in blood

........

Abnormality of histidine metabolism (HP:0010904)

................... HP:0002927 Histidinuria
................... HP:0010906 Hyperhistidinemia

........

Abnormality of pyruvate family amino acid metabolism (HP:0010915)

................... HP:0010916 Abnormality of alanine metabolism

........

Abnormality of citrulline metabolism (HP:0011965)

................... HP:0003572 Low plasma citrulline
................... HP:0011966 Elevated plasma citrulline

........

Abnormality of ornithine metabolism (HP:0012025)

................... HP:0012026 Hyperornithinemia

........

Abnormality of creatine metabolism (HP:0012113)

........

Hyperbetaalaninemia (HP:0012556)

Sister Nodes:

Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Abnormal circulating monocarboxylic acid concentration (HP:0010996)

Aldehyde oxidase deficiency (HP:0002932)

Elevated urinary carboxylic acid (HP:0040156)

Increased level of galactonate in red blood cells (HP:0410063)

Increased level of hippuric acid in blood (HP:0410065)

Increased level of hippuric acid in urine (HP:0410066)

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:0004337	HP:0004337	Abnormality of amino acid metabolism	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent	242
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0004337	HP:0004337	Abnormality of amino acid metabolism	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent	43

Genes (8) :AGA CBS ERCC2 ERCC3 ERCC4 ERCC5 SLC30A10 TAT

Diseases (5) :ORPHA:93 ORPHA:394 ORPHA:220295 ORPHA:309854 ORPHA:28378

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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