DPR
MCID: DRM021
MIFTS: 28

Dermatopathia Pigmentosa Reticularis (DPR)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatopathia Pigmentosa Reticularis

MalaCards integrated aliases for Dermatopathia Pigmentosa Reticularis:

Name: Dermatopathia Pigmentosa Reticularis 57 76 53 59 75 37 29 13 6 40 73
Dpr 57 53 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
reticulate hyperpigmentation onset birth - 2 years


HPO:

32
dermatopathia pigmentosa reticularis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125595
Orphanet 59 ORPHA86920
ICD10 via Orphanet 34 Q82.4
MESH via Orphanet 45 C535374
UMLS via Orphanet 74 C0406778
MedGen 42 C0406778
MeSH 44 D004476
KEGG 37 H00796
UMLS 73 C0406778

Summaries for Dermatopathia Pigmentosa Reticularis

OMIM : 57 Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992). (125595)

MalaCards based summary : Dermatopathia Pigmentosa Reticularis, also known as dpr, is related to naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis and adermatoglyphia. An important gene associated with Dermatopathia Pigmentosa Reticularis is KRT14 (Keratin 14). Affiliated tissues include skin and colon, and related phenotypes are nail dystrophy and hypohidrosis

UniProtKB/Swiss-Prot : 75 Dermatopathia pigmentosa reticularis: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis.

Wikipedia : 76 Dermatopathia pigmentosa reticularis (DPR), also known as dermatopathic pigmentosa reticularis, is a... more...

Related Diseases for Dermatopathia Pigmentosa Reticularis

Diseases related to Dermatopathia Pigmentosa Reticularis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 12.7
2 adermatoglyphia 11.4
3 naegeli-franceschetti-jadassohn syndrome 10.3
4 nodular degeneration of cornea 10.3
5 palmoplantar keratosis 10.3
6 fibromatosis 10.3
7 colorectal cancer 10.2
8 ovarian cancer 10.0
9 malaria 10.0
10 meningitis 10.0
11 segmental odontomaxillary dysplasia 10.0

Graphical network of the top 20 diseases related to Dermatopathia Pigmentosa Reticularis:



Diseases related to Dermatopathia Pigmentosa Reticularis

Symptoms & Phenotypes for Dermatopathia Pigmentosa Reticularis

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
adermatoglyphia
reticulate hyperpigmentation (primarily trunk)
hypohidrosis/hyperhidrosis
nonscarring blisters (hand, feet, forearms)

Head And Neck Eyes:
reticulate pigmentation (bulbar conjunctiva)

Skin Nails Hair Hair:
noncicatricial alopecia (scalp, eyebrows, axillary hair)

Skin Nails Hair Nails:
onychodystrophy

Head And Neck Mouth:
reticulate pigmentation (oral mucosa)


Clinical features from OMIM:

125595

Human phenotypes related to Dermatopathia Pigmentosa Reticularis:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 HP:0008404
2 hypohidrosis 32 HP:0000966
3 palmoplantar hyperkeratosis 32 HP:0000972
4 alopecia of scalp 32 HP:0002293
5 reticular hyperpigmentation 32 HP:0007588
6 adermatoglyphia 32 HP:0007455
7 abnormal conjunctiva morphology 32 HP:0000502
8 hypohidrosis or hyperhidrosis 32 HP:0007550
9 reticulate pigmentation of oral mucosa 32 HP:0012788

Drugs & Therapeutics for Dermatopathia Pigmentosa Reticularis

Search Clinical Trials , NIH Clinical Center for Dermatopathia Pigmentosa Reticularis

Genetic Tests for Dermatopathia Pigmentosa Reticularis

Genetic tests related to Dermatopathia Pigmentosa Reticularis:

# Genetic test Affiliating Genes
1 Dermatopathia Pigmentosa Reticularis 29 KRT14

Anatomical Context for Dermatopathia Pigmentosa Reticularis

MalaCards organs/tissues related to Dermatopathia Pigmentosa Reticularis:

41
Skin, Colon

Publications for Dermatopathia Pigmentosa Reticularis

Articles related to Dermatopathia Pigmentosa Reticularis:

(show top 50) (show all 57)
# Title Authors Year
1
Disruption of a Novel Iron Transport System Reverses Oxidative Stress Phenotypes of a dpr Mutant Strain of Streptococcus mutans. ( 29735760 )
2018
2
Neuron-Subtype-Specific Expression, Interaction Affinities, and Specificity Determinants of DIP/Dpr Cell Recognition Proteins. ( 30467080 )
2018
3
Doctor-patient relationships (DPR) in China. ( 28260407 )
2017
4
CEA Response and Depth of Response (DpR) to Predict Clinical Outcomes of First-Line Cetuximab Treatment for Metastatic Colorectal Cancer. ( 29064002 )
2017
5
Dpr-DIP matching expression in Drosophila synaptic pairs. ( 27450981 )
2017
6
Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review. ( 27512211 )
2016
7
A novel process combining simultaneous partial nitrification, anammox and denitrification (SNAD) with denitrifying phosphorus removal (DPR) to treat sewage. ( 27728833 )
2016
8
Recovering disrupted social capital: insights from Lao DPR rural villagers' perceptions of local leadership. ( 27884133 )
2016
9
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. ( 26869068 )
2016
10
Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association. ( 26695611 )
2015
11
Proteome analysis identifies the Dpr protein of Streptococcus mutans as an important factor in the presence of early streptococcal colonizers of tooth surfaces. ( 25816242 )
2015
12
Early tumour shrinkage (ETS) and depth of response (DpR) in the treatment of patients with metastatic colorectal cancer (mCRC). ( 26188850 )
2015
13
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. ( 23440032 )
2013
14
dpr and sod in Streptococcus mutans are involved in coexistence with S. sanguinis, and PerR is associated with resistance to H2O2. ( 23263955 )
2013
15
Binding analysis of ferritin with heme using α-casein and biotinylated-hemin: detection of heme-binding capacity of Dpr derived from heme synthesis-deficient Streptococcus mutans. ( 23545463 )
2013
16
A Fur-like protein PerR regulates two oxidative stress response related operons dpr and metQIN in Streptococcus suis. ( 22646062 )
2012
17
Structural and thermodynamic characterization of metal ion binding in Streptococcus suis Dpr. ( 21056572 )
2011
18
Magnetic properties and structural characterization of iron oxide nanoparticles formed by Streptococcus suis Dpr and four mutants. ( 21487937 )
2011
19
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. ( 20180888 )
2010
20
Crystal structures of Streptococcus pyogenes Dpr reveal a dodecameric iron-binding protein with a ferroxidase site. ( 19727858 )
2010
21
Oxidative stress and metal ions regulate a ferritin-like gene, dpr, in Streptococcus pyogenes. ( 19879189 )
2010
22
Structural characterization and biological implications of di-zinc binding in the ferroxidase center of Streptococcus pyogenes Dpr. ( 20599728 )
2010
23
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. ( 19040520 )
2009
24
Early-onset gastric carcinoma in a man with dermatopathia pigmentosa reticularis. ( 18477171 )
2008
25
An iron-binding protein, Dpr, decreases hydrogen peroxide stress and protects Streptococcus pyogenes against multiple stresses. ( 18541662 )
2008
26
Dermatopathia pigmentosa reticularis. ( 17958818 )
2007
27
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )
2006
28
Use of dolomite phosphate rock (DPR) fertilizers to reduce phosphorus leaching from sandy soil. ( 16087279 )
2006
29
Leaching potential of heavy metals (Cd, Ni, Pb, Cu and Zn) from acidic sandy soil amended with dolomite phosphate rock (DPR) fertilizers. ( 16785053 )
2006
30
Structure-activity relationships of the unique and potent agouti-related protein (AGRP)-melanocortin chimeric Tyr-c[beta-Asp-His-DPhe-Arg-Trp-Asn-Ala-Phe-Dpr]-Tyr-NH2 peptide template. ( 15828845 )
2005
31
Dps/Dpr ferritin-like protein: insights into the mechanism of iron incorporation and evidence for a central role in cellular iron homeostasis in Streptococcus suis. ( 16091046 )
2005
32
Evaluation of a malaria control project in DPR Korea, 2001-2003. ( 16124418 )
2005
33
Introduction of DPR, an enterostatin fragment peptide, into soybean beta-conglycinin alpha' subunit by site-directed mutagenesis. ( 14745196 )
2004
34
Crystal structure of Streptococcus suis Dps-like peroxide resistance protein Dpr: implications for iron incorporation. ( 15081812 )
2004
35
Regulation of the intracellular free iron pool by Dpr provides oxygen tolerance to Streptococcus mutans. ( 15342568 )
2004
36
Preclinical in vitro evaluation of hematotoxicity of the cisplatin-procaine complex DPR. ( 12569303 )
2003
37
Radiochemical investigations of gastrin-releasing peptide receptor-specific [(99m)Tc(X)(CO)3-Dpr-Ser-Ser-Ser-Gln-Trp-Ala-Val-Gly-His-Leu-Met-(NH2)] in PC-3, tumor-bearing, rodent models: syntheses, radiolabeling, and in vitro/in vivo studies where Dpr = 2,3-diaminopropionic acid and X = H2O or P(CH2OH)3. ( 12874010 )
2003
38
Enterostatin (VPDPR) and its peptide fragment DPR reduce serum cholesterol levels after oral administration in mice. ( 12913316 )
2003
39
Embryo-lethal and teratogenic effect of the new platinum compound DPR in pregnant mice. ( 14574446 )
2003
40
An iron-binding protein, Dpr, from Streptococcus mutans prevents iron-dependent hydroxyl radical formation in vitro. ( 12003933 )
2002
41
Embryotoxicity of cisplatin and a cisplatin-procaine complex (DPR) studied in chick embryo. ( 12584587 )
2002
42
Iron content of Streptococcus suis and evidence for a dpr homologue. ( 11400731 )
2001
43
Role of the dpr product in oxygen tolerance in Streptococcus mutans. ( 10850989 )
2000
44
Molecular biology of oxygen tolerance in lactic acid bacteria: Functions of NADH oxidases and Dpr in oxidative stress. ( 16232897 )
2000
45
Combination of cisplatin-procaine complex DPR with anticancer drugs increases cytotoxicity against ovarian cancer cell lines. ( 9660544 )
1998
46
Neurotoxic effect of cisplatin and the cisplatin-procaine complex DPR studied in organotypic cultures of chick embryonic dorsal root ganglia. ( 9773811 )
1998
47
A case of dermatopathia pigmentosa reticularis. ( 9164071 )
1997
48
Cisplatin combined with the new cisplatin-procaine complex DPR: in vitro and in vivo studies. ( 9038617 )
1996
49
Palmoplantar keratoderma associated with dermatopathia pigmentosa reticularis: successful treatment with etretinate. ( 7591467 )
1995
50
Modifications of cell-cycle induced by dpr, a new platinum-triamine complex containing procaine. ( 21567018 )
1994

Variations for Dermatopathia Pigmentosa Reticularis

ClinVar genetic disease variations for Dermatopathia Pigmentosa Reticularis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT14 NM_000526.4(KRT14): c.54C> A (p.Cys18Ter) single nucleotide variant Pathogenic rs60831116 GRCh37 Chromosome 17, 39743033: 39743033
2 KRT14 NM_000526.4(KRT14): c.54C> A (p.Cys18Ter) single nucleotide variant Pathogenic rs60831116 GRCh38 Chromosome 17, 41586781: 41586781

Expression for Dermatopathia Pigmentosa Reticularis

Search GEO for disease gene expression data for Dermatopathia Pigmentosa Reticularis.

Pathways for Dermatopathia Pigmentosa Reticularis

GO Terms for Dermatopathia Pigmentosa Reticularis

Sources for Dermatopathia Pigmentosa Reticularis

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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