MCID: DRM021
MIFTS: 26

Dermatopathia Pigmentosa Reticularis

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 53 72 49 55 71 36 28 13 69
Dpr 53 49 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
reticulate hyperpigmentation onset birth - 2 years


HPO:

31
dermatopathia pigmentosa reticularis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 125595
Orphanet 55 ORPHA86920
MESH via Orphanet 42 C535374
UMLS via Orphanet 70 C0406778
ICD10 via Orphanet 33 Q82.4
MedGen 39 C0406778
MeSH 41 D004476
KEGG 36 H00796
UMLS 69 C0406778

Summaries for Dermatopathia Pigmentosa Reticularis

OMIM : 53 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, and has symptoms including nail dystrophy, abnormality of the conjunctiva and palmoplantar hyperkeratosis. An important gene associated with Dermatopathia Pigmentosa Reticularis is KRT14 (Keratin 14). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Palmoplantar keratoderma.

Wikipedia : 72 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 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:

53
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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 abnormality of the conjunctiva 31 HP:0000502
3 palmoplantar hyperkeratosis 31 HP:0000972
4 alopecia of scalp 31 HP:0002293
5 reticular hyperpigmentation 31 HP:0007588
6 adermatoglyphia 31 HP:0007455
7 hypohidrosis or hyperhidrosis 31 HP:0007550
8 reticulate pigmentation of oral mucosa 31 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 28 KRT14

Anatomical Context for Dermatopathia Pigmentosa Reticularis

MalaCards organs/tissues related to Dermatopathia Pigmentosa Reticularis:

38
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

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
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
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