DD2
MCID: DNT021
MIFTS: 34

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 58 76 30 13 6 74
Nephrolithiasis, Type 2 41
Nephrolithiasis Type 2 60
Dent Disease, Type 2 41
Dent Disease Type 2 60
Dd2 76

Characteristics:

Orphanet epidemiological data:

60
dent disease type 2
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

58
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

33
dent disease 2:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300555
MeSH 45 D015499
ICD10 via Orphanet 35 N25.8
UMLS via Orphanet 75 C1845167
Orphanet 60 ORPHA93623
MedGen 43 C1845167
UMLS 74 C1845167

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 300555

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:

# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.1 INPP5B OCRL
2 lowe oculocerebrorenal syndrome 29.4 INPP5B OCRL
3 diabetes mellitus 10.2
4 hidradenitis suppurativa 10.0
5 hidradenitis 10.0
6 x-linked recessive disease 9.6 INPP5B OCRL

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 33 occasional (7.5%) HP:0001537
2 nephrocalcinosis 33 occasional (7.5%) HP:0000121
3 global developmental delay 33 HP:0001263
4 short stature 33 HP:0004322
5 cognitive impairment 33 HP:0100543
6 aminoaciduria 33 HP:0003355
7 hypercalciuria 33 HP:0002150
8 chronic kidney disease 33 HP:0012622
9 proximal tubulopathy 33 HP:0000114
10 low-molecular-weight proteinuria 33 HP:0003126
11 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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 30 OCRL

Anatomical Context for Dent Disease 2

MalaCards organs/tissues related to Dent Disease 2:

42
Kidney, Bone

Publications for Dent Disease 2

Articles related to Dent Disease 2:

# Title Authors Year
1
Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa. ( 29430722 )
2018
2
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
3
Muscle involvement in Dent disease 2. ( 24912603 )
2014
4
Novel OCRL mutations in patients with Dent-2 disease. ( 27625797 )
2012
5
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011
6
Dent Disease with mutations in OCRL1. ( 15627218 )
2005

Variations for Dent Disease 2

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

76
# 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

ClinVar genetic disease variations for Dent Disease 2:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCRL NM_000276.3(OCRL): c.1436A> G (p.Tyr479Cys) single nucleotide variant Pathogenic rs137853262 GRCh37 Chromosome X, 128701310: 128701310
2 OCRL NM_000276.3(OCRL): c.1436A> G (p.Tyr479Cys) single nucleotide variant Pathogenic rs137853262 GRCh38 Chromosome X, 129567333: 129567333
3 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
4 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh38 Chromosome X, 129562396: 129562396
5 OCRL OCRL, ARG476TRP single nucleotide variant Pathogenic
6 OCRL OCRL, ILE526THR single nucleotide variant Pathogenic
7 OCRL OCRL, 2-BP DEL, 166TT deletion Pathogenic
8 OCRL NM_000276.3(OCRL): c.1060A> C (p.Asn354His) single nucleotide variant not provided rs137853833 GRCh37 Chromosome X, 128696579: 128696579
9 OCRL NM_000276.3(OCRL): c.1060A> C (p.Asn354His) single nucleotide variant not provided rs137853833 GRCh38 Chromosome X, 129562602: 129562602
10 OCRL NM_000276.3(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh37 Chromosome X, 128703251: 128703251
11 OCRL NM_000276.3(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh38 Chromosome X, 129569274: 129569274
12 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
13 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh38 Chromosome X, 129589938: 129589938
14 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
15 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh38 Chromosome X, 129590145: 129590145
16 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
17 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh38 Chromosome X, 129561263: 129561264
18 OCRL NM_000276.3: c.2140_*2286del deletion Pathogenic
19 OCRL NG_008638.1: g.(5550_9683)_(13328_22050)del deletion Pathogenic
20 OCRL NM_000276.3(OCRL): c.940-11G> A single nucleotide variant Pathogenic rs776743373 GRCh37 Chromosome X, 128696350: 128696350
21 OCRL NM_000276.3(OCRL): c.940-11G> A single nucleotide variant Pathogenic rs776743373 GRCh38 Chromosome X, 129562373: 129562373
22 INPP5B NM_005540.2(INPP5B): c.152C> T (p.Ala51Val) single nucleotide variant Likely pathogenic rs773387490 GRCh37 Chromosome 1, 38411428: 38411428
23 INPP5B NM_005540.2(INPP5B): c.152C> T (p.Ala51Val) single nucleotide variant Likely pathogenic rs773387490 GRCh38 Chromosome 1, 37945756: 37945756
24 OCRL NM_000276.3(OCRL): c.187_199+449del deletion Likely pathogenic rs1556338810 GRCh37 Chromosome X, 128679002: 128679463
25 OCRL NM_000276.3(OCRL): c.187_199+449del deletion Likely pathogenic rs1556338810 GRCh38 Chromosome X, 129545025: 129545486

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 INPP5B OCRL
2 phagocytic vesicle membrane GO:0030670 8.62 INPP5B OCRL

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 INPP5B OCRL
2 regulation of small GTPase mediated signal transduction GO:0051056 9.26 INPP5B OCRL
3 inositol phosphate metabolic process GO:0043647 9.16 INPP5B OCRL
4 positive regulation of GTPase activity GO:0043547 9.07 OCRL
5 phosphatidylinositol dephosphorylation GO:0046856 8.96 INPP5B OCRL
6 inositol phosphate dephosphorylation GO:0046855 8.62 INPP5B OCRL

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 INPP5B OCRL
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 INPP5B OCRL

Sources for Dent Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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