Human Phenotype Ontology

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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:
Abnormal nephron morphology (HP:0012575)

Parent Node:
Abnormal renal tubule morphology (HP:0000091)

..Starting node
..Proximal tubulopathy (HP:0000114)

Term ID:

114

Name:

Proximal tubulopathy

Synonym:

Proximal renal tubule defect; Proximal renal tubulopathy; Proximal tubular defect; Proximal tubule dysfunction; Selective proximal tubular damage

Definition:

Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.

Comments:

Reference:

HP:0000114

Genes and Diseases:

Child Nodes:

........

Non-acidotic proximal tubulopathy (HP:0005574)

........

Global proximal tubulopathy (HP:0012573)

Sister Nodes:

Abnormal tubulointerstitial morphology (HP:0001969)

Renal tubular atrophy (HP:0000092)

Renal tubular epithelial necrosis (HP:0008682)

Renotubular dysgenesis (HP:0008660)

Tubular basement membrane disintegration (HP:0005583)

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:0000114	HP:0000114	Proximal tubulopathy	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0000114	HP:0000114	Proximal tubulopathy	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0000114	HP:0000114	Proximal tubulopathy	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0000114	HP:0000114	Proximal tubulopathy	0	CLCN5 CL E G H	1184	2023	OMIM:310468	Nephrolithiasis, type I	.	112
HP:0000114	HP:0000114	Proximal tubulopathy	0	CLCN5 CL E G H	1184	2023	OMIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	.	112
HP:0000114	HP:0000114	Proximal tubulopathy	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000114	HP:0000114	Proximal tubulopathy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0000114	HP:0000114	Proximal tubulopathy	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0000114	HP:0000114	Proximal tubulopathy	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0000114	HP:0000114	Proximal tubulopathy	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0000114	HP:0000114	Proximal tubulopathy	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0000114	HP:0000114	Proximal tubulopathy	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0000114	HP:0000114	Proximal tubulopathy	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000114	HP:0000114	Proximal tubulopathy	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0000114	HP:0000114	Proximal tubulopathy	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0000114	HP:0000114	Proximal tubulopathy	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0000114	HP:0000114	Proximal tubulopathy	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0000114	HP:0000114	Proximal tubulopathy	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0000114	HP:0000114	Proximal tubulopathy	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000114	HP:0000114	Proximal tubulopathy	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.	125
HP:0000114	HP:0000114	Proximal tubulopathy	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.	47
HP:0000114	HP:0000114	Proximal tubulopathy	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0000114	HP:0000114	Proximal tubulopathy	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0000114	Proximal tubulopathy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000114	HP:0012573	Global proximal tubulopathy	1	CL E G H
HP:0000114	HP:0005574	Non-acidotic proximal tubulopathy	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289

Genes (57) :ALDOB CLCN5 COG6 COX1 COX2 COX3 CTNS ETFA ETFB ETFDH FOXRED1 HBB LRP2 MPI ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OCRL PMM2 POLRMT RRM2B SLC34A1 TIMMDC1 TMEM126B TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (18) :OMIM:229600 OMIM:300009 OMIM:300554 OMIM:310468 OMIM:308990 OMIM:614576 ORPHA:550 ORPHA:411634 OMIM:231680 ORPHA:2609 ORPHA:231222 OMIM:222448 OMIM:602579 OMIM:300555 OMIM:212065 OMIM:619743 OMIM:612075 OMIM:613388

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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