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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 2 (C564487)
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:

3193

Name:

Dent Disease 2

Definition:

Alternative IDs:

OMIM:300555

ParentIDs:

MESH:D040181|MESH:D053040

TreeNumbers:

C12.777.419.600/C564487 |C12.777.967.249/C564487 |C13.351.968.419.600/C564487 |C13.351.968.967.249/C564487 |C16.320.322/C564487

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C564487
MeSH: C564487
OMIM: 300555;

Genes: OCRL;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0003355	Aminoaciduria
4	HP:0012622	Chronic kidney disease
5	HP:0100543	Cognitive impairment
6	HP:0003236	Elevated circulating creatine kinase concentration
7	HP:0001263	Global developmental delay
8	HP:0002150	Hypercalciuria
9	HP:0003126	Low-molecular-weight proteinuria
10	HP:0000121	Nephrocalcinosis	HP:0040283
11	HP:0000114	Proximal tubulopathy
12	HP:0004322	Short stature
13	HP:0001537	Umbilical hernia	HP:0040283

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_000276.3(OCRL):c.909_910delAG (p.Gly304Phefs)	4952	OCRL	Pathogenic	398123290	RCV000173669; RCV000173668; RCV000078497;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128695240	128695241	NM_000276.3:c.909_910delAG	NP_000267.2:p.Gly304Phefs	NC_000023.10:g.128695240_128695241delAG	HGMD:CD002182	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys)	4952	OCRL	Likely pathogenic;Pathogenic	137853263	RCV000059607; RCV000011608;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128696373	128696373	NM_000276.3:c.952C>T	NP_000267.2:p.Arg318Cys	NC_000023.10:g.128696373C>T	OMIM Allelic Variant:300535.0006,UniProtKB (variants):VAR_022698	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1060A>C (p.Asn354His)	4952	OCRL	not provided	137853833	RCV000059577;	N	MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128696579	128696579	NM_000276.3:c.1060A>C	NP_000267.2:p.Asn354His	NC_000023.10:g.128696579A>C	UniProtKB (variants):VAR_064777	C1845167 300555 Dent disease 2
NM_000276.3(OCRL):c.1436A>G (p.Tyr479Cys)	4952	OCRL	Pathogenic	137853262	RCV000011607;	N	MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128701310	128701310	NM_000276.3:c.1436A>G	NP_000267.2:p.Tyr479Cys	NC_000023.10:g.128701310A>G	OMIM Allelic Variant:300535.0005,UniProtKB (variants):VAR_022699	C1845167 300555 Dent disease 2
NM_000276.3(OCRL):c.1477C>T (p.Arg493Trp)	4952	OCRL	Likely pathogenic	137853846	RCV000059593;	N	MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128703251	128703251	NM_000276.3:c.1477C>T	NP_000267.2:p.Arg493Trp	NC_000023.10:g.128703251C>T	UniProtKB (variants):VAR_064786	C1845167 300555 Dent disease 2
NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter)	4952	OCRL	Pathogenic	794727333	RCV000176153; RCV000176152;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128722198	128722198	NM_000276.3:c.2299C>T	NP_000267.2:p.Gln767Ter	NC_000023.10:g.128722198C>T	-	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.2563delG (p.Val855Serfs)	4952	OCRL	Pathogenic	398123288	RCV000176363; RCV000176362; RCV000078494;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128723915	128723915	NM_000276.3:c.2563delG	NP_000267.2:p.Val855Serfs	NC_000023.10:g.128723915delG	-	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.2582-1G>A	4952	OCRL	Pathogenic	398123289	RCV000176452; RCV000176451; RCV000078495;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128724122	128724122	NM_000276.3:c.2582-1G>A		NC_000023.10:g.128724122G>A	HGMD:CS982297	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided