DD2
MCID: DNT021
MIFTS: 38

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 56 73 29 13 6 71
Nephrolithiasis Type 2 58
Dent Disease, Type 2 39
Dent Disease Type 2 58
Dd2 73

Characteristics:

Orphanet epidemiological data:

58
dent disease type 2
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

56
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

31
dent disease 2:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300555
OMIM Phenotypic Series 56 PS300009
MeSH 43 D015499
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C1845167
Orphanet 58 ORPHA93623
MedGen 41 C1845167
UMLS 71 C1845167

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 73 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 Signaling by Rho GTPases and p75 NTR receptor-mediated signalling. Affiliated tissues include kidney, bone and liver, 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 22)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.8 OCRL INPP5B
2 lowe oculocerebrorenal syndrome 29.5 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 hidradenitis suppurativa 10.1
14 hidradenitis 10.1
15 cataract 10.1
16 fanconi renotubular syndrome 1 10.0
17 alacrima, achalasia, and mental retardation syndrome 10.0
18 fanconi syndrome 10.0
19 aminoaciduria 10.0
20 hypotonia 10.0
21 x-linked recessive disease 9.4 OCRL INPP5B
22 joubert syndrome 1 9.2 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 31 occasional (7.5%) HP:0001537
2 nephrocalcinosis 31 occasional (7.5%) HP:0000121
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 cognitive impairment 31 HP:0100543
6 aminoaciduria 31 HP:0003355
7 hypercalciuria 31 HP:0002150
8 proximal tubulopathy 31 HP:0000114
9 chronic kidney disease 31 HP:0012622
10 low-molecular-weight proteinuria 31 HP:0003126
11 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
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:

40
Kidney, Bone, Liver, Heart

Publications for Dent Disease 2

Articles related to Dent Disease 2:

(show all 19)
# Title Authors PMID Year
1
Novel OCRL mutations in patients with Dent-2 disease. 56 6
27625797 2012
2
Dent Disease with mutations in OCRL1. 56 6
15627218 2005
3
Dent Disease 61 6
22876375 2012
4
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome? 56
27625794 2012
5
Polyclonal gammopathy in an adolescent affected by Dent disease 2 and hidradenitis suppurativa. 61
31971248 2020
6
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. 61
30590522 2019
7
Phosphoinositides in the kidney. 61
30314999 2019
8
Patients affected by dent disease 2 could be predisposed to hidradenitis suppurativa. 61
29430722 2018
9
The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria. 61
29552446 2018
10
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 61
28669993 2017
11
Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China. 61
28580211 2017
12
Dent's disease complicated by nephrotic syndrome: A case report. 61
27904828 2016
13
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. 61
25907713 2015
14
Muscle involvement in Dent disease 2. 61
24912603 2014
15
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. 61
23947751 2013
16
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. 61
23047739 2013
17
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. 61
21183592 2011
18
Dent's disease. 61
20946626 2010
19
Renal manifestations of Dent disease and Lowe syndrome. 61
18038239 2008

Variations for Dent Disease 2

ClinVar genetic disease variations for Dent Disease 2:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCRL NM_000276.3:c.2140_*2286deldeletion Pathogenic 208012
2 OCRL NG_008638.1:g.(5550_9683)_(13328_22050)deldeletion Pathogenic 208013
3 OCRL NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)SNV Pathogenic 10860 rs137853262 X:128701310-128701310 X:129567333-129567333
4 OCRL OCRL, ARG476TRPSNV Pathogenic 29971
5 OCRL OCRL, ILE526THRSNV Pathogenic 29972
6 OCRL OCRL, 2-BP DEL, 166TTdeletion Pathogenic 29973
7 OCRL NM_000276.4(OCRL):c.940-11G>ASNV Pathogenic 279859 rs776743373 X:128696350-128696350 X:129562373-129562373
8 OCRL NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)SNV Pathogenic 641377 X:128722985-128722985 X:129589008-129589008
9 OCRL NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)SNV Likely pathogenic 68712 rs137853846 X:128703251-128703251 X:129569274-129569274
10 INPP5B NM_005540.3(INPP5B):c.152C>T (p.Ala51Val)SNV Likely pathogenic 548655 rs773387490 1:38411428-38411428 1:37945756-37945756
11 OCRL NM_000276.4(OCRL):c.187_199+449deldeletion Likely pathogenic 548654 rs1556338810 X:128679002-128679463 X:129545025-129545486
12 OCRL NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)SNV Likely pathogenic 10861 rs137853263 X:128696373-128696373 X:129562396-129562396
13 OCRL NM_000276.4(OCRL):c.1060A>C (p.Asn354His)SNV not provided 68696 rs137853833 X:128696579-128696579 X:129562602-129562602

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

73
# 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.

Pathways for Dent Disease 2

Pathways related to Dent Disease 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 OCRL INPP5B
2
Show member pathways
11.92 OCRL INPP5B
3
Show member pathways
11.55 OCRL INPP5B
4
Show member pathways
10.68 OCRL INPP5B

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 cytoplasmic vesicle GO:0031410 9.26 OCRL INPP5B
2 endosome GO:0005768 9.16 OCRL INPP5B
3 early endosome membrane GO:0031901 8.96 OCRL INPP5B
4 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 phosphatidylinositol dephosphorylation GO:0046856 8.96 OCRL INPP5B
5 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 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 8.96 OCRL INPP5B
3 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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