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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

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: Genetic Diseases, X-Linked (D040181)
Parent Node: Nephrolithiasis (D053040)
..Starting node ..Dent disease 1 (C538212)
Child Nodes:
Sister Nodes:
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Kidney Calculi (D007669) 2
..Nephrolithiasis, Calcium Oxalate (C563477)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3192

Name:

Dent disease 1

Definition:

Alternative IDs:

OMIM:300009

ParentIDs:

MESH:D040181|MESH:D053040

TreeNumbers:

C12.777.419.600/C538212 |C12.777.967.249/C538212 |C13.351.968.419.600/C538212 |C13.351.968.967.249/C538212 |C16.320.322/C538212

Synonyms:

Nephrolithiasis 2 |Nephrolithiasis, hypercalciuria, x-linked |Nephrolithiasis, Hypercalciuric, X-Linked |Nphl2 |Urolithiasis, Hypercalciuric, X-Linked

Slim Mappings:

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

Reference:

MedGen: C538212
MeSH: C538212
OMIM: 300009;

Genes: CLCN5;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003355	Aminoaciduria
3	HP:0002653	Bone pain
4	HP:0002979	Bowing of the legs
5	HP:0003013	Bulging epiphyses
6	HP:0012622	Chronic kidney disease
7	HP:0002663	Delayed epiphyseal ossification
8	HP:0003029	Enlargement of the ankles
9	HP:0003020	Enlargement of the wrists
10	HP:0002980	Femoral bowing
11	HP:0010502	Fibular bowing
12	HP:0003076	Glycosuria
13	HP:0002150	Hypercalciuria
14	HP:0003109	Hyperphosphaturia
15	HP:0002148	Hypophosphatemia
16	HP:0003126	Low-molecular-weight proteinuria
17	HP:0003025	Metaphyseal irregularity
18	HP:0002907	Microscopic hematuria
19	HP:0000121	Nephrocalcinosis
20	HP:0000787	Nephrolithiasis
21	HP:0003152	obsolete Increased serum 1,25-dihydroxyvitamin D3
22	HP:0002749	Osteomalacia
23	HP:0003812	Phenotypic variability
24	HP:0000114	Proximal tubulopathy
25	HP:0002757	Recurrent fractures
26	HP:0000117	Renal phosphate wasting
27	HP:0002748	Rickets
28	HP:0004322	Short stature
29	HP:0002752	Sparse bone trabeculae
30	HP:0002753	Thin bony cortex
31	HP:0002982	Tibial bowing

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_000084.4(CLCN5):c.100C>T (p.Arg34Ter)	1184	CLCN5	Pathogenic	797044808	RCV000192273;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49834680	49834680	NM_000084.4:c.100C>T	NP_000075.1:p.Arg34Ter	NC_000023.10:g.49834680C>T	-	C1848336 300009 Dent disease 1
NG_007159.3:g.(?_162979)_(164232_?)del	1184	CLCN5	Pathogenic	-1	RCV000192281;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49845251	49846504	-	-		-	C1848336 300009 Dent disease 1
NM_001127899.3(CLCN5):c.809T>G (p.Leu270Arg)	1184	CLCN5	Pathogenic	151340622	RCV000012566;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49846380	49846380	NM_001127899.3:c.809T>G	NP_001121371.1:p.Leu270Arg	NC_000023.10:g.49846380T>G	OMIM Allelic Variant:300008.0003	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro)	1184	CLCN5	Pathogenic	273585645	RCV000033876;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49846455	49846455	NM_000084.4:c.674T>C	NP_000075.1:p.Leu225Pro	NC_000023.10:g.49846455T>C	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.731C>T (p.Ser244Leu)	1184	CLCN5	Likely pathogenic;Pathogenic	151340626	RCV000192274; RCV000012570;	N	MedGen:C1845168,OMIM:300554; MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49850644	49850644	NM_000084.4:c.731C>T	NP_000075.1:p.Ser244Leu	NC_000023.10:g.49850644C>T	OMIM Allelic Variant:300008.0007	C1848336 300009 Dent disease 1; C1845168 300554 Hypophosphatemic rickets, X-linked recessive
NM_000084.4(CLCN5):c.779G>T (p.Gly260Val)	1184	CLCN5	Pathogenic	151340630	RCV000012576;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49850692	49850692	NM_000084.4:c.779G>T	NP_000075.1:p.Gly260Val	NC_000023.10:g.49850692G>T	OMIM Allelic Variant:300008.0013	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.815A>G (p.Tyr272Cys)	1184	CLCN5	Pathogenic	273585644	RCV000033877;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49850995	49850995	NM_000084.4:c.815A>G	NP_000075.1:p.Tyr272Cys	NC_000023.10:g.49850995A>G	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.834G>C (p.Leu278Phe)	1184	CLCN5	Pathogenic	273585648	RCV000033878;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49851014	49851014	NM_000084.4:c.834G>C	NP_000075.1:p.Leu278Phe	NC_000023.10:g.49851014G>C	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.836G>A (p.Trp279Ter)	1184	CLCN5	Pathogenic	797044809	RCV000192275;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49851016	49851016	NM_000084.4:c.836G>A	NP_000075.1:p.Trp279Ter	NC_000023.10:g.49851016G>A	-	C1848336 300009 Dent disease 1
NM_001127899.3(CLCN5):c.1047G>A (p.Trp349Ter)	1184	CLCN5	Pathogenic	151340620	RCV000012563; RCV000012564;	N	MedGen:C1839874,OMIM:308990; MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49851017	49851017	NM_001127899.3:c.1047G>A	NP_001121371.1:p.Trp349Ter	NC_000023.10:g.49851017G>A	OMIM Allelic Variant:300008.0001	C1848336 300009 Dent disease 1; C1839874 308990 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
NM_000084.4(CLCN5):c.1020C>A (p.Asn340Lys)	1184	CLCN5	Pathogenic	273585646	RCV000033872;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49851200	49851200	NM_000084.4:c.1020C>A	NP_000075.1:p.Asn340Lys	NC_000023.10:g.49851200C>A	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1039C>T (p.Arg347Ter)	1184	CLCN5	Pathogenic	797044810	RCV000192276;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49851219	49851219	NM_000084.4:c.1039C>T	NP_000075.1:p.Arg347Ter	NC_000023.10:g.49851219C>T	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1399C>T (p.Arg467Ter)	1184	CLCN5	Pathogenic	797044811	RCV000192277;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49853406	49853406	NM_000084.4:c.1399C>T	NP_000075.1:p.Arg467Ter	NC_000023.10:g.49853406C>T	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1537G>A (p.Gly513Arg)	1184	CLCN5	Pathogenic	273585647	RCV000033873;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49854775	49854775	NM_000084.4:c.1537G>A	NP_000075.1:p.Gly513Arg	NC_000023.10:g.49854775G>A	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1546C>T (p.Arg516Trp)	1184	CLCN5	Likely pathogenic	797044812	RCV000192278;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49854784	49854784	NM_000084.4:c.1546C>T	NP_000075.1:p.Arg516Trp	NC_000023.10:g.49854784C>T	-	C1848336 300009 Dent disease 1
NM_001127899.3(CLCN5):c.1768T>C (p.Ser590Pro)	1184	CLCN5	Pathogenic	151340623	RCV000012567;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49854796	49854796	NM_001127899.3:c.1768T>C	NP_001121371.1:p.Ser590Pro	NC_000023.10:g.49854796T>C	OMIM Allelic Variant:300008.0004	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1637A>G (p.Lys546Arg)	1184	CLCN5	Pathogenic	273585649	RCV000033874;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49854875	49854875	NM_000084.4:c.1637A>G	NP_000075.1:p.Lys546Arg	NC_000023.10:g.49854875A>G	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1639T>G (p.Trp547Gly)	1184	CLCN5	Pathogenic	273585650	RCV000033875;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49854877	49854877	NM_000084.4:c.1639T>G	NP_000075.1:p.Trp547Gly	NC_000023.10:g.49854877T>G	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1909C>T (p.Arg637Ter)	1184	CLCN5	Pathogenic	797044813	RCV000192279;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49855147	49855147	NM_000084.4:c.1909C>T	NP_000075.1:p.Arg637Ter	NC_000023.10:g.49855147C>T	-	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.1942C>T (p.Arg648Ter)	1184	CLCN5	Pathogenic	151340621	RCV000012565;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49855335	49855335	NM_000084.4:c.1942C>T	NP_000075.1:p.Arg648Ter	NC_000023.10:g.49855335C>T	OMIM Allelic Variant:300008.0002	C1848336 300009 Dent disease 1
NM_000084.4(CLCN5):c.2152C>T (p.Arg718Ter)	1184	CLCN5	Pathogenic	797044814	RCV000192280;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49856787	49856787	NM_000084.4:c.2152C>T	NP_000075.1:p.Arg718Ter	NC_000023.10:g.49856787C>T	-	C1848336 300009 Dent disease 1
NM_001127899.3(CLCN5):c.2393_2415del23 (p.Val798Glyfs)	1184	CLCN5	Pathogenic	797044815	RCV000192282;	N	MedGen:C1848336,OMIM:300009,ORPHA:93622	X	49856818	49856840	NM_001127899.3:c.2393_2415del23	NP_001121371.1:p.Val798Glyfs	NC_000023.10:g.49856818_49856840del23	-	C1848336 300009 Dent disease 1