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:
Abnormality of vitamin metabolism (HP:0100508)

..Starting node
..Abnormal circulating serine family amino acid concentration (HP:0010894)

Term ID:

10894

Name:

Abnormal circulating serine family amino acid concentration

Synonym:

Abnormality of serine family amino acid metabolism

Definition:

Any deviation from the normal concentration of a serine family amino acid in the blood circulation.

Comments:

Reference:

HP:0010894

Genes and Diseases:

Child Nodes:

........

Abnormality of glycine metabolism (HP:0010895)

................... HP:0002154 Hyperglycinemia
................... HP:0003108 Hyperglycinuria
................... HP:0010898 Abnormality of sarcosine metabolism
................... HP:0012277 Hypoglycinemia

........

Abnormality of serine metabolism (HP:0012278)

................... HP:0012279 Hyposerinemia

Sister Nodes:

Abnormality of vitamin A metabolism (HP:0008372)

Abnormality of vitamin B metabolism (HP:0004340)

Abnormality of vitamin C metabolism (HP:0100509)

Abnormality of vitamin D metabolism (HP:0100511)

Abnormality of vitamin E metabolism (HP:0100514)

Abnormality of vitamin K metabolism (HP:0100831)

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:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures		92
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010894	HP:0010894	Abnormal circulating serine family amino acid concentration	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia		96
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia		92
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form		54
HP:0010894	HP:0010898	Abnormal circulating sarcosine concentration	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia		4
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0010894	HP:0012278	Abnormal circulating serine concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010894	HP:0010895	Abnormal circulating glycine concentration	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0010894	HP:0500138	Hyperserinemia	2	CL E G H
HP:0010894	HP:0002154	Hyperglycinemia	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0010894	HP:0002154	Hyperglycinemia	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0010894	HP:0002154	Hyperglycinemia	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0010894	HP:0002154	Hyperglycinemia	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010894	HP:0002154	Hyperglycinemia	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0010894	HP:0002154	Hyperglycinemia	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0010894	HP:0002154	Hyperglycinemia	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0010894	HP:0002154	Hyperglycinemia	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0010894	HP:0002154	Hyperglycinemia	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent	6
HP:0010894	HP:0002154	Hyperglycinemia	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0010894	HP:0002154	Hyperglycinemia	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0010894	HP:0002154	Hyperglycinemia	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0010894	HP:0002154	Hyperglycinemia	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0010894	HP:0002154	Hyperglycinemia	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0010894	HP:0002154	Hyperglycinemia	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0010894	HP:0002154	Hyperglycinemia	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0010894	HP:0002154	Hyperglycinemia	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0010894	HP:0002154	Hyperglycinemia	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0010894	HP:0002154	Hyperglycinemia	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0010894	HP:0012277	Hypoglycinemia	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	37
HP:0010894	HP:0012279	Hyposerinemia	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	37
HP:0010894	HP:0012277	Hypoglycinemia	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0010894	HP:0012279	Hyposerinemia	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0010894	HP:0002154	Hyperglycinemia	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0010894	HP:0012279	Hyposerinemia	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0010894	HP:0012279	Hyposerinemia	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent	54
HP:0010894	HP:0010896	Hypersarcosinemia	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040280 - Obligate	4
HP:0010894	HP:0002154	Hyperglycinemia	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0010894	HP:0002154	Hyperglycinemia	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0010894	HP:0002154	Hyperglycinemia	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0010894	HP:0008288	Nonketotic hyperglycinemia	3	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040281 - Very frequent	17
HP:0010894	HP:0008288	Nonketotic hyperglycinemia	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0010894	HP:0008288	Nonketotic hyperglycinemia	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0010894	HP:0008288	Nonketotic hyperglycinemia	3	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99

Genes (26) :ALDH4A1 AMT BOLA3 COX8A GCSH GLDC GLRX5 GLYCTK IRF6 MMAA MMAB MMUT NFS1 NFU1 PCCA PCCB PET117 PHGDH PNPO PSAT1 PSPH SARDH SLC25A13 SLC30A10 SLC7A7 SUCLG1

Diseases (26) :ORPHA:79101 OMIM:605899 OMIM:614299 OMIM:619059 ORPHA:401866 OMIM:616859 OMIM:220120 ORPHA:941 ORPHA:1300 OMIM:251100 OMIM:251110 OMIM:251000 OMIM:619386 OMIM:605711 OMIM:606054 OMIM:619063 ORPHA:79351 ORPHA:79096 OMIM:610992 ORPHA:284417 ORPHA:79350 ORPHA:3129 ORPHA:247598 ORPHA:309854 ORPHA:470 OMIM:245400

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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