DPR
MCID: DRM021
MIFTS: 27

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 58 77 54 60 76 38 30 13 6 41 74
Dpr 58 54 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
reticulate hyperpigmentation onset birth - 2 years


HPO:

33
dermatopathia pigmentosa reticularis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 125595
KEGG 38 H00796
MeSH 45 D004476
MESH via Orphanet 46 C535374
ICD10 via Orphanet 35 Q82.4
UMLS via Orphanet 75 C0406778
Orphanet 60 ORPHA86920
MedGen 43 C0406778
UMLS 74 C0406778

Summaries for Dermatopathia Pigmentosa Reticularis

OMIM : 58 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 : 76 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 : 77 Dermatopathia pigmentosa reticularis is a rare, autosomal dominantcongenital disorder that is a form of... 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 11.5
3 naegeli-franceschetti-jadassohn syndrome 10.5
4 alopecia 10.3
5 nodular degeneration of cornea 10.3
6 palmoplantar keratosis 10.3
7 fibromatosis 10.3
8 colorectal cancer 10.2
9 ovarian cancer 10.1
10 malaria 10.1
11 meningitis 10.1

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



Diseases related to Dermatopathia Pigmentosa Reticularis

Symptoms & Phenotypes for Dermatopathia Pigmentosa Reticularis

Human phenotypes related to Dermatopathia Pigmentosa Reticularis:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 hypohidrosis 33 HP:0000966
3 abnormal conjunctiva morphology 33 HP:0000502
4 palmoplantar hyperkeratosis 33 HP:0000972
5 alopecia of scalp 33 HP:0002293
6 reticular hyperpigmentation 33 HP:0007588
7 adermatoglyphia 33 HP:0007455
8 hypohidrosis or hyperhidrosis 33 HP:0007550
9 reticulate pigmentation of oral mucosa 33 HP:0012788

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KRT14

Anatomical Context for Dermatopathia Pigmentosa Reticularis

MalaCards organs/tissues related to Dermatopathia Pigmentosa Reticularis:

42
Skin, Colon

Publications for Dermatopathia Pigmentosa Reticularis

Articles related to Dermatopathia Pigmentosa Reticularis:

(show top 50) (show all 69)
# Title Authors Year
1
Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy. ( 31008174 )
2019
2
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. ( 30968399 )
2019
3
Dermatopathia Pigmentosa Reticularis. ( 30983613 )
2019
4
Disruption of a Novel Iron Transport System Reverses Oxidative Stress Phenotypes of a dpr Mutant Strain of Streptococcus mutans. ( 29735760 )
2018
5
Neuron-Subtype-Specific Expression, Interaction Affinities, and Specificity Determinants of DIP/Dpr Cell Recognition Proteins. ( 30467080 )
2018
6
dPR, Another Diastolic Resting Pressure Ratio. ( 30562081 )
2018
7
Dpr-DIP matching expression in Drosophila synaptic pairs. ( 27450981 )
2017
8
Doctor-patient relationships (DPR) in China. ( 28260407 )
2017
9
CEA Response and Depth of Response (DpR) to Predict Clinical Outcomes of First-Line Cetuximab Treatment for Metastatic Colorectal Cancer. ( 29064002 )
2017
10
Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review. ( 27512211 )
2016
11
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD. ( 26869068 )
2016
12
A novel process combining simultaneous partial nitrification, anammox and denitrification (SNAD) with denitrifying phosphorus removal (DPR) to treat sewage. ( 27728833 )
2016
13
Recovering disrupted social capital: insights from Lao DPR rural villagers' perceptions of local leadership. ( 27884133 )
2016
14
Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association. ( 26695611 )
2015
15
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
16
Early tumour shrinkage (ETS) and depth of response (DpR) in the treatment of patients with metastatic colorectal cancer (mCRC). ( 26188850 )
2015
17
Effect of nonheme iron-containing ferritin Dpr in the stress response and virulence of pneumococci. ( 25001605 )
2014
18
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. ( 23440032 )
2013
19
Dolomite phosphate rock (DPR) application in acidic sandy soil in reducing leaching of phosphorus and heavy metals-a column leaching study. ( 23179226 )
2013
20
dpr and sod in Streptococcus mutans are involved in coexistence with S. sanguinis, and PerR is associated with resistance to H2O2. ( 23263955 )
2013
21
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
22
A Fur-like protein PerR regulates two oxidative stress response related operons dpr and metQIN in Streptococcus suis. ( 22646062 )
2012
23
Structural and thermodynamic characterization of metal ion binding in Streptococcus suis Dpr. ( 21056572 )
2011
24
Magnetic properties and structural characterization of iron oxide nanoparticles formed by Streptococcus suis Dpr and four mutants. ( 21487937 )
2011
25
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. ( 20180888 )
2010
26
Crystal structures of Streptococcus pyogenes Dpr reveal a dodecameric iron-binding protein with a ferroxidase site. ( 19727858 )
2010
27
Oxidative stress and metal ions regulate a ferritin-like gene, dpr, in Streptococcus pyogenes. ( 19879189 )
2010
28
Structural characterization and biological implications of di-zinc binding in the ferroxidase center of Streptococcus pyogenes Dpr. ( 20599728 )
2010
29
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. ( 19040520 )
2009
30
Dpr Acts as a molecular switch, inhibiting Wnt signaling when unphosphorylated, but promoting Wnt signaling when phosphorylated by casein kinase Idelta/epsilon. ( 19440376 )
2009
31
Early-onset gastric carcinoma in a man with dermatopathia pigmentosa reticularis. ( 18477171 )
2008
32
An iron-binding protein, Dpr, decreases hydrogen peroxide stress and protects Streptococcus pyogenes against multiple stresses. ( 18541662 )
2008
33
Dermatopathia pigmentosa reticularis. ( 17958818 )
2007
34
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )
2006
35
Use of dolomite phosphate rock (DPR) fertilizers to reduce phosphorus leaching from sandy soil. ( 16087279 )
2006
36
Leaching potential of heavy metals (Cd, Ni, Pb, Cu and Zn) from acidic sandy soil amended with dolomite phosphate rock (DPR) fertilizers. ( 16785053 )
2006
37
Iron incorporation in Streptococcus suis Dps-like peroxide resistance protein Dpr requires mobility in the ferroxidase center and leads to the formation of a ferrihydrite-like core. ( 16997323 )
2006
38
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
39
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
40
Evaluation of a malaria control project in DPR Korea, 2001-2003. ( 16124418 )
2005
41
Introduction of DPR, an enterostatin fragment peptide, into soybean beta-conglycinin alpha' subunit by site-directed mutagenesis. ( 14745196 )
2004
42
Crystal structure of Streptococcus suis Dps-like peroxide resistance protein Dpr: implications for iron incorporation. ( 15081812 )
2004
43
Regulation of the intracellular free iron pool by Dpr provides oxygen tolerance to Streptococcus mutans. ( 15342568 )
2004
44
Molecular basis of H2O2 resistance mediated by Streptococcal Dpr. Demonstration of the functional involvement of the putative ferroxidase center by site-directed mutagenesis in Streptococcus suis. ( 12501248 )
2003
45
Preclinical in vitro evaluation of hematotoxicity of the cisplatin-procaine complex DPR. ( 12569303 )
2003
46
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
47
Enterostatin (VPDPR) and its peptide fragment DPR reduce serum cholesterol levels after oral administration in mice. ( 12913316 )
2003
48
Embryo-lethal and teratogenic effect of the new platinum compound DPR in pregnant mice. ( 14574446 )
2003
49
An iron-binding protein, Dpr, from Streptococcus mutans prevents iron-dependent hydroxyl radical formation in vitro. ( 12003933 )
2002
50
Expression, purification and crystallization of Dpr, a ferritin-like protein from the Gram-positive meningitis-associated bacterium Streptococcus suis. ( 12351836 )
2002

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 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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