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 amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating alanine concentration (HP:0010916)

Parent Node:
Abnormal circulating amino acid concentration (HP:0003112)

..Starting node
..Hyperalaninemia (HP:0003348)

Term ID:

3348

Name:

Hyperalaninemia

Synonym:

Increased blood alanine; Increased serum alanine

Definition:

An increased concentration of alanine in the blood.

Comments:

Reference:

HP:0003348

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating GABA concentration (HP:0410054)

Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)

Hyperglutaminemia (HP:0003217)

Hyperglycinemia (HP:0002154)

Hyperlysinemia (HP:0002161)

Hyperthreoninemia (HP:0003354)

Hypoglycinemia (HP:0012277)

Hypomethioninemia (HP:0003658)

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:0003348	HP:0003348	Hyperalaninemia	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0003348	HP:0003348	Hyperalaninemia	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0003348	HP:0003348	Hyperalaninemia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0003348	HP:0003348	Hyperalaninemia	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0003348	HP:0003348	Hyperalaninemia	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0003348	HP:0003348	Hyperalaninemia	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003348	HP:0003348	Hyperalaninemia	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003348	HP:0003348	Hyperalaninemia	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0003348	HP:0003348	Hyperalaninemia	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0003348	HP:0003348	Hyperalaninemia	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003348	HP:0003348	Hyperalaninemia	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003348	HP:0003348	Hyperalaninemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040284 - Very rare	64
HP:0003348	HP:0003348	Hyperalaninemia	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0003348	HP:0003348	Hyperalaninemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003348	HP:0003348	Hyperalaninemia	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0003348	HP:0003348	Hyperalaninemia	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0003348	HP:0003348	Hyperalaninemia	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.	2
HP:0003348	HP:0003348	Hyperalaninemia	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0003348	HP:0003348	Hyperalaninemia	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003348	HP:0003348	Hyperalaninemia	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0003348	HP:0003348	Hyperalaninemia	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0003348	HP:0003348	Hyperalaninemia	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0003348	HP:0003348	Hyperalaninemia	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0003348	HP:0003348	Hyperalaninemia	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	HP:0040283 - Occasional	39
HP:0003348	HP:0003348	Hyperalaninemia	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional	36
HP:0003348	HP:0003348	Hyperalaninemia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0003348	HP:0003348	Hyperalaninemia	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0003348	HP:0003348	Hyperalaninemia	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0003348	HP:0003348	Hyperalaninemia	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0003348	HP:0003348	Hyperalaninemia	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0003348	HP:0003348	Hyperalaninemia	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0003348	HP:0003348	Hyperalaninemia	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0003348	HP:0003348	Hyperalaninemia	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0003348	HP:0003348	Hyperalaninemia	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0003348	HP:0003348	Hyperalaninemia	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0003348	HP:0003348	Hyperalaninemia	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003348	HP:0003348	Hyperalaninemia	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0003348	HP:0003348	Hyperalaninemia	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0003348	HP:0003348	Hyperalaninemia	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003348	HP:0003348	Hyperalaninemia	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003348	HP:0003348	Hyperalaninemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003348	HP:0003348	Hyperalaninemia	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0003348	HP:0003348	Hyperalaninemia	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.	4
HP:0003348	HP:0003348	Hyperalaninemia	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0003348	HP:0003348	Hyperalaninemia	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0003348	HP:0003348	Hyperalaninemia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003348	HP:0003348	Hyperalaninemia	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0003348	HP:0003348	Hyperalaninemia	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0003348	HP:0003348	Hyperalaninemia	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56

Genes (59) :ALDH4A1 ATP5F1A ATP6 CA5A COQ9 COX10 COX16 COX5A COX6B1 COX8A DNM1L DTYMK FBP1 FBXL4 FOCAD KARS1 LIG3 LIPT2 LYRM7 MICOS13 MIPEP MRPL3 MRPS14 MRPS2 MTO1 NAGS ND1 ND2 ND3 ND4 ND5 ND6 NDUFA13 NDUFB10 NDUFC2 NDUFS4 NFS1 NGLY1 PC PDHA1 PDHX PDP1 PNPLA8 POLG RRM2B SCO1 SLC25A4 SLC7A7 TARS2 TMEM126B TMEM70 TRMT10C TRNK TRNL1 TRNV TRNW TYMP UQCRC2 VARS2

Diseases (46) :ORPHA:79101 OMIM:616045 ORPHA:255210 OMIM:615751 OMIM:614654 OMIM:619046 OMIM:619355 OMIM:619064 OMIM:619051 OMIM:619059 OMIM:614388 OMIM:619847 ORPHA:348 OMIM:615471 OMIM:619991 OMIM:619147 ORPHA:298 OMIM:617668 OMIM:615838 OMIM:618329 OMIM:617228 OMIM:614582 OMIM:618378 OMIM:617950 OMIM:614702 ORPHA:927 OMIM:618249 OMIM:619003 OMIM:619170 OMIM:252010 OMIM:619386 OMIM:615273 OMIM:266150 OMIM:312170 OMIM:245349 ORPHA:79246 OMIM:251950 OMIM:619048 OMIM:615418 ORPHA:470 OMIM:615918 OMIM:618250 OMIM:614052 OMIM:616974 OMIM:615160 OMIM:615917

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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