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:
Acidosis (HP:0001941)

Grandparent Node:
Renal tubular dysfunction (HP:0000124)

Parent Node:
Renal tubular acidosis (HP:0001947)

..Starting node
..Proximal renal tubular acidosis (HP:0002049)

Term ID:

2049

Name:

Proximal renal tubular acidosis

Synonym:

Proximal tubular acidosis; Renal tubular acidosis, proximal; Renal tubular acidosis, type II

Definition:

A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.

Comments:

Reference:

HP:0002049

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bicarbonate-wasting renal tubular acidosis (HP:0004910)

Distal renal tubular acidosis (HP:0008341)

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:0002049	HP:0002049	Proximal renal tubular acidosis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89
HP:0002049	HP:0002049	Proximal renal tubular acidosis	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7

Genes (11) :ALDOB CA2 EHHADH GATA3 GATM NDUFAF6 OCRL PC SLC34A1 SLC4A4 UQCC2

Diseases (9) :OMIM:229600 ORPHA:2785 ORPHA:3337 OMIM:146255 OMIM:309000 ORPHA:534 OMIM:266150 OMIM:604278 OMIM:615824

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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