MCID: DNT021
MIFTS: 26

Dent Disease 2

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

Aliases & Classifications for Dent Disease 2

MalaCards integrated aliases for Dent Disease 2:

Name: Dent Disease 2 57 75 29 13 6 73
Nephrolithiasis, Type 2 40
Nephrolithiasis Type 2 59
Dent Disease, Type 2 40
Dent Disease Type 2 59
Dd2 75

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:

OMIM 57 300555
Orphanet 59 ORPHA93623
UMLS via Orphanet 74 C1845167
ICD10 via Orphanet 34 N25.8
MedGen 42 C1845167
MeSH 44 D015499

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 75 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 diabetes mellitus. An important gene associated with Dent Disease 2 is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase). Affiliated tissues include kidney and bone, and related phenotypes are global developmental delay and umbilical hernia

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 11.6
2 diabetes mellitus 10.0
3 lowe oculocerebrorenal syndrome 10.0
4 hidradenitis suppurativa 9.8
5 hidradenitis 9.8

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



Diseases related to Dent Disease 2

Symptoms & Phenotypes for Dent Disease 2

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

Human phenotypes related to Dent Disease 2:

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

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:

# 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
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011

Variations for Dent Disease 2

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

75
# 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 21)
# 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.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh37 Chromosome X, 128703251: 128703251
9 OCRL NM_000276.3(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh38 Chromosome X, 129569274: 129569274
10 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
11 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh38 Chromosome X, 129589938: 129589938
12 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
13 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh38 Chromosome X, 129590145: 129590145
14 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
15 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh38 Chromosome X, 129561263: 129561264
16 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
17 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh38 Chromosome X, 129588221: 129588221
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

Expression for Dent Disease 2

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

Pathways for Dent Disease 2

GO Terms for Dent Disease 2

Sources for Dent Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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