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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Acidosis (D000138)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Acidosis, Renal Tubular (D000141)
Child Nodes:
........Neuroaxonal dystrophy renal tubular acidosis (C537386)
........Osteopetrosis with renal tubular acidosis (C536058)
........Renal tubular acidosis, distal, autosomal recessive (C537758)
........Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
........Renal tubular acidosis, distal, type 3 (C537759)
........Renal Tubular Acidosis, Distal, With Hemolytic Anemia (C566910)
........Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
........Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology (C566911)
........Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
........Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
........Whyte Murphy Fallon Sly syndrome (C536060)
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

155

Name:

Acidosis, Renal Tubular

Definition:

A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.

Alternative IDs:

OMIM:179800

ParentIDs:

MESH:D000138|MESH:D015499

TreeNumbers:

C12.777.419.815.093 |C13.351.968.419.815.093 |C16.320.565.861.093 |C18.452.076.176.210 |C18.452.648.861.093

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D000141
MeSH: D000141
OMIM: 179800;

Genes: SLC4A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002901	Hypocalcemia
3	HP:0000121	Nephrocalcinosis
4	HP:0002749	Osteomalacia
5	HP:0002756	Pathologic fracture
6	HP:0008153	Periodic hypokalemic paresis
7	HP:0003768	Periodic paralysis
8	HP:0008897	Postnatal growth retardation
9	HP:0001947	Renal tubular acidosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000342.3(SLC4A1):c.1838C>T (p.Ser613Phe)	6521	SLC4A1	Pathogenic	121912746	RCV000019342;	N	MedGen:C0259810,OMIM:179800	17	42332627	42332627	NM_000342.3:c.1838C>T	NP_000333.1:p.Ser613Phe	NC_000017.10:g.42332627G>A	OMIM Allelic Variant:109270.0014	C0259810 179800 Renal tubular acidosis, distal, autosomal dominant
NM_000342.3(SLC4A1):c.1766G>A (p.Arg589His)	6521	SLC4A1	Pathogenic	121912744	RCV000019340;	N	MedGen:C0259810,OMIM:179800	17	42333075	42333075	NM_000342.3:c.1766G>A	NP_000333.1:p.Arg589His	NC_000017.10:g.42333075C>T	OMIM Allelic Variant:109270.0012	C0259810 179800 Renal tubular acidosis, distal, autosomal dominant
NM_000342.3(SLC4A1):c.1765C>T (p.Arg589Cys)	6521	SLC4A1	Pathogenic	121912745	RCV000019341;	N	MedGen:C0259810,OMIM:179800	17	42333076	42333076	NM_000342.3:c.1765C>T	NP_000333.1:p.Arg589Cys	NC_000017.10:g.42333076G>A,NC_000017.10:g.42333076G>T	OMIM Allelic Variant:109270.0013	C0259810 179800 Renal tubular acidosis, distal, autosomal dominant
NM_000342.3(SLC4A1):c.1765C>A (p.Arg589Ser)	6521	SLC4A1	Pathogenic	121912745	RCV000019343;	N	MedGen:C0259810,OMIM:179800	17	42333076	42333076	NM_000342.3:c.1765C>A	NP_000333.1:p.Arg589Ser	NC_000017.10:g.42333076G>A,NC_000017.10:g.42333076G>T	OMIM Allelic Variant:109270.0015	C0259810 179800 Renal tubular acidosis, distal, autosomal dominant