DD2
MCID: DNT021
MIFTS: 37

Dent Disease 2 (DD2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Dent Disease 2

MalaCards integrated aliases for Dent Disease 2:

Name: Dent Disease 2 57 74 29 13 6 72
Nephrolithiasis Type 2 59
Dent Disease, Type 2 40
Dent Disease Type 2 59
Dd2 74

Characteristics:

Orphanet epidemiological data:

59
dent disease type 2
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

57
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

32
dent disease 2:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

MeSH 44 D015499
ICD10 via Orphanet 34 N25.8
UMLS via Orphanet 73 C1845167
Orphanet 59 ORPHA93623
MedGen 42 C1845167
UMLS 72 C1845167

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 74 Dent disease 2: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.

MalaCards based summary : Dent Disease 2, also known as nephrolithiasis type 2, is related to dent disease 1 and lowe oculocerebrorenal syndrome. An important gene associated with Dent Disease 2 is OCRL (OCRL Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are superpathway of inositol phosphate compounds and Inositol phosphate metabolism. Affiliated tissues include kidney and bone, and related phenotypes are umbilical hernia and nephrocalcinosis

More information from OMIM: 300555 PS300009

Related Diseases for Dent Disease 2

Diseases in the Dent Disease 1 family:

Dent Disease 2

Diseases related to Dent Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.4 OCRL INPP5B
2 lowe oculocerebrorenal syndrome 28.9 OCRL INPP5B
3 hypertriglyceridemia, familial 10.1
4 polykaryocytosis inducer 10.1
5 resting heart rate, variation in 10.1
6 peripheral vascular disease 10.1
7 non-alcoholic fatty liver disease 10.1
8 dental caries 10.1
9 lipid metabolism disorder 10.1
10 cerebrovascular disease 10.1
11 fatty liver disease 10.1
12 diabetic neuropathy 10.1
13 cataract 10.1
14 fanconi renotubular syndrome 1 10.0
15 alacrima, achalasia, and mental retardation syndrome 10.0
16 fanconi syndrome 10.0
17 hidradenitis suppurativa 10.0
18 hidradenitis 10.0
19 aminoaciduria 10.0
20 hypotonia 10.0
21 x-linked recessive disease 9.4 OCRL INPP5B

Graphical network of the top 20 diseases related to Dent Disease 2:



Diseases related to Dent Disease 2

Symptoms & Phenotypes for Dent Disease 2

Human phenotypes related to Dent Disease 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 32 occasional (7.5%) HP:0001537
2 nephrocalcinosis 32 occasional (7.5%) HP:0000121
3 global developmental delay 32 HP:0001263
4 short stature 32 HP:0004322
5 cognitive impairment 32 HP:0100543
6 aminoaciduria 32 HP:0003355
7 hypercalciuria 32 HP:0002150
8 proximal tubulopathy 32 HP:0000114
9 chronic kidney disease 32 HP:0012622
10 low-molecular-weight proteinuria 32 HP:0003126
11 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercalciuria
low-molecular-weight proteinuria
increased creatine kinase
aminoaciduria, mild (in some patients)
increased lactate dehydrogenase

Neurologic Central Nervous System:
cognitive impairment (in some patients)
developmental delay, mild (in some patients)

Genitourinary Kidneys:
proximal renal tubule defect
renal insufficiency, progressive
nephrocalcinosis (in some patients)

Growth Height:
short stature (in some patients)

Abdomen External Features:
umbilical hernia (in some patients)

Head And Neck Eyes:
mild ocular nuclear density (uncommon)

Clinical features from OMIM:

300555

GenomeRNAi Phenotypes related to Dent Disease 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.62 INPP5B OCRL

Drugs & Therapeutics for Dent Disease 2

Search Clinical Trials , NIH Clinical Center for Dent Disease 2

Genetic Tests for Dent Disease 2

Genetic tests related to Dent Disease 2:

# Genetic test Affiliating Genes
1 Dent Disease 2 29 OCRL

Anatomical Context for Dent Disease 2

MalaCards organs/tissues related to Dent Disease 2:

41
Kidney, Bone

Publications for Dent Disease 2

Articles related to Dent Disease 2:

(show all 18)
# Title Authors PMID Year
1
Novel OCRL mutations in patients with Dent-2 disease. 8 71
27625797 2012
2
Dent Disease with mutations in OCRL1. 8 71
15627218 2005
3
Dent Disease 38 71
22876375 2012
4
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome? 8
27625794 2012
5
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. 38
30590522 2019
6
Phosphoinositides in the kidney. 38
30314999 2019
7
Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa. 38
29430722 2018
8
The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria. 38
29552446 2018
9
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 38
28669993 2017
10
Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China. 38
28580211 2017
11
Dent's disease complicated by nephrotic syndrome: A case report. 38
27904828 2016
12
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. 38
25907713 2015
13
Muscle involvement in Dent disease 2. 38
24912603 2014
14
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. 38
23947751 2013
15
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. 38
23047739 2013
16
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. 38
21183592 2011
17
Dent's disease. 38
20946626 2010
18
Renal manifestations of Dent disease and Lowe syndrome. 38
18038239 2008

Variations for Dent Disease 2

ClinVar genetic disease variations for Dent Disease 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OCRL NM_000276.4(OCRL): c.1436A> G (p.Tyr479Cys) single nucleotide variant Pathogenic rs137853262 X:128701310-128701310 X:129567333-129567333
2 OCRL OCRL, ARG476TRP single nucleotide variant Pathogenic
3 OCRL OCRL, ILE526THR single nucleotide variant Pathogenic
4 OCRL OCRL, 2-BP DEL, 166TT deletion Pathogenic
5 OCRL NM_000276.3: c.2140_*2286del deletion Pathogenic
6 OCRL NG_008638.1: g.(5550_9683)_(13328_22050)del deletion Pathogenic
7 OCRL NM_000276.4(OCRL): c.940-11G> A single nucleotide variant Pathogenic rs776743373 X:128696350-128696350 X:129562373-129562373
8 OCRL NM_000276.4(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 X:128703251-128703251 X:129569274-129569274
9 OCRL NM_000276.4(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 X:128696373-128696373 X:129562396-129562396
10 INPP5B NM_005540.3(INPP5B): c.152C> T (p.Ala51Val) single nucleotide variant Likely pathogenic rs773387490 1:38411428-38411428 1:37945756-37945756
11 OCRL NM_000276.4(OCRL): c.187_199+449del deletion Likely pathogenic rs1556338810 X:128679002-128679463 X:129545025-129545486
12 OCRL NM_000276.4(OCRL): c.1060A> C (p.Asn354His) single nucleotide variant not provided rs137853833 X:128696579-128696579 X:129562602-129562602

UniProtKB/Swiss-Prot genetic disease variations for Dent Disease 2:

74
# Symbol AA change Variation ID SNP ID
1 OCRL p.Arg318Cys VAR_022698 rs137853263
2 OCRL p.Tyr479Cys VAR_022699 rs137853262
3 OCRL p.Asn354His VAR_064777 rs137853833
4 OCRL p.Arg493Trp VAR_064786 rs137853846
5 OCRL p.Pro799Leu VAR_064792

Expression for Dent Disease 2

Search GEO for disease gene expression data for Dent Disease 2.

GO Terms for Dent Disease 2

Cellular components related to Dent Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 8.96 OCRL INPP5B
2 phagocytic vesicle membrane GO:0030670 8.62 OCRL INPP5B

Biological processes related to Dent Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.32 OCRL INPP5B
2 regulation of small GTPase mediated signal transduction GO:0051056 9.26 OCRL INPP5B
3 inositol phosphate metabolic process GO:0043647 9.16 OCRL INPP5B
4 positive regulation of GTPase activity GO:0043547 9.07 OCRL
5 phosphatidylinositol dephosphorylation GO:0046856 8.96 OCRL INPP5B
6 inositol phosphate dephosphorylation GO:0046855 8.62 OCRL INPP5B

Molecular functions related to Dent Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.16 OCRL INPP5B
2 GTPase activator activity GO:0005096 8.96 OCRL
3 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 8.65 INPP5B
4 inositol phosphate phosphatase activity GO:0052745 8.62 OCRL INPP5B

Sources for Dent Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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