DPR
MCID: DRM021
MIFTS: 25

Dermatopathia Pigmentosa Reticularis (DPR)

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal 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 related phenotypes are abnormal conjunctiva morphology and palmoplantar hyperkeratosis

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 dermatopathia pigmentosa reticularis... more...

Related Diseases for Dermatopathia Pigmentosa Reticularis

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

# Related Disease Score Top Affiliating Genes
1 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 12.5
2 adermatoglyphia 11.3
3 naegeli-franceschetti-jadassohn syndrome 10.2
4 ectodermal dysplasia 10.2
5 nodular degeneration of cornea 10.2
6 palmoplantar keratosis 10.2
7 fibromatosis 10.2

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
Head And Neck Eyes:
reticulate pigmentation (bulbar conjunctiva)

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

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

Head And Neck Mouth:
reticulate pigmentation (oral mucosa)

Skin Nails Hair Nails:
onychodystrophy


Clinical features from OMIM:

125595

Human phenotypes related to Dermatopathia Pigmentosa Reticularis:

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

Publications for Dermatopathia Pigmentosa Reticularis

Articles related to Dermatopathia Pigmentosa Reticularis:

(show all 15)
# Title Authors Year
1
Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review. ( 27512211 )
2016
2
Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association. ( 26695611 )
2015
3
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. ( 23440032 )
2013
4
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. ( 20180888 )
2010
5
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. ( 19040520 )
2009
6
Early-onset gastric carcinoma in a man with dermatopathia pigmentosa reticularis. ( 18477171 )
2008
7
Dermatopathia pigmentosa reticularis. ( 17958818 )
2007
8
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. ( 16960809 )
2006
9
A case of dermatopathia pigmentosa reticularis. ( 9164071 )
1997
10
Palmoplantar keratoderma associated with dermatopathia pigmentosa reticularis: successful treatment with etretinate. ( 7591467 )
1995
11
Dermatopathia pigmentosa reticularis. ( 8432934 )
1993
12
Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. ( 1303619 )
1992
13
Dermatopathia pigmentosa reticularis. ( 2360843 )
1990
14
Dermatopathia pigmentosa reticularis. ( 862219 )
1977
15
Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans. ( 5310556 )
1970

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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