MCID: DNT021
MIFTS: 26

Dent Disease 2

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

Aliases & Classifications for Dent Disease 2

MalaCards integrated aliases for Dent Disease 2:

Name: Dent Disease 2 53 71 28 13 69
Nephrolithiasis Type 2 55
Dent Disease Type 2 55
Dd2 71

Characteristics:

Orphanet epidemiological data:

55
dent disease type 2
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

53
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:



External Ids:

OMIM 53 300555
Orphanet 55 ORPHA93623
UMLS via Orphanet 70 C1845167
ICD10 via Orphanet 33 N25.8
MedGen 39 C1845167
MeSH 41 D015499

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including global developmental delay, umbilical hernia and short stature. An important gene associated with Dent Disease 2 is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase). Affiliated tissues include kidney and bone.

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 lowe oculocerebrorenal syndrome 10.0
3 hidradenitis suppurativa 9.8
4 hidradenitis 9.8

Symptoms & Phenotypes for Dent Disease 2

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 umbilical hernia 31 occasional (7.5%) HP:0001537
3 short stature 31 HP:0004322
4 cognitive impairment 31 HP:0100543
5 aminoaciduria 31 HP:0003355
6 elevated serum creatine phosphokinase 31 HP:0003236
7 hypercalciuria 31 HP:0002150
8 nephrocalcinosis 31 occasional (7.5%) HP:0000121
9 proximal tubulopathy 31 HP:0000114
10 chronic kidney disease 31 HP:0012622
11 low-molecular-weight proteinuria 31 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 28 OCRL

Anatomical Context for Dent Disease 2

MalaCards organs/tissues related to Dent Disease 2:

38
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:

71
# 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 12)
# 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.952C> T (p.Arg318Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
3 OCRL OCRL, ARG476TRP single nucleotide variant Pathogenic
4 OCRL OCRL, ILE526THR single nucleotide variant Pathogenic
5 OCRL OCRL, 2-BP DEL, 166TT deletion Pathogenic
6 OCRL NM_000276.3(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh37 Chromosome X, 128703251: 128703251
7 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
8 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
9 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
10 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
11 OCRL NM_000276.3: c.2140_*2286del deletion Pathogenic
12 OCRL NG_008638.1: g.(5550_9683)_(13328_22050)del deletion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....