DPR
MCID: DRM021
MIFTS: 42

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 12 73 20 58 72 36 29 13 6 44 15 39 70
Dpr 57 12 20 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
reticulate hyperpigmentation onset birth - 2 years


HPO:

31
dermatopathia pigmentosa reticularis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111342
OMIM® 57 125595
KEGG 36 H00796
SNOMED-CT 67 239088003
MESH via Orphanet 45 C535374
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 71 C0406778
Orphanet 58 ORPHA86920
MedGen 41 C0406778
UMLS 70 C0406778

Summaries for Dermatopathia Pigmentosa Reticularis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86920 Definition A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.

MalaCards based summary : Dermatopathia Pigmentosa Reticularis, also known as dpr, is related to lateral sclerosis and amyotrophic lateral sclerosis 1. An important gene associated with Dermatopathia Pigmentosa Reticularis is KRT14 (Keratin 14), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Autophagy - animal. Affiliated tissues include bone and brain, and related phenotypes are hypohidrosis and nail dystrophy

Disease Ontology : 12 An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has material basis in heterozygous mutation in KRT14 on chromosome 17q21.2.

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) (Updated 20-May-2021)

KEGG : 36 Dermatopathia pigmentosa reticularis is a rare disorder of pigmentation characterized by a triad of reticulate hyperpigmentation, nonscarring alopecia, and onychodystrophy. Other symptoms observed in the disease are palmoplantar keratoderma and hypohidrosis.

UniProtKB/Swiss-Prot : 72 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 : 73 Dermatopathia pigmentosa reticularis is a rare, autosomal dominant congenital 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 top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 lateral sclerosis 30.2 UBQLN2 TARDBP HNRNPA1 FUS C9orf72
2 amyotrophic lateral sclerosis 1 29.2 WDR41 UBQLN2 TARDBP SMCR8 LGALS4 HNRNPH2
3 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 11.7
4 adermatoglyphia 11.5
5 dowling-degos disease 1 10.7
6 alopecia 10.7
7 ectodermal dysplasia 10.5
8 palmoplantar keratosis 10.5
9 naegeli-franceschetti-jadassohn syndrome 10.4
10 anhidrosis 10.4
11 keratosis 10.4
12 agraphia 10.4 TARDBP C9orf72
13 semantic dementia 10.3 TARDBP C9orf72
14 amyotrophic lateral sclerosis type 15 10.3 UBQLN2 C9orf72
15 prosopagnosia 10.3 TARDBP C9orf72
16 associative agnosia 10.3 TARDBP FUS C9orf72
17 epilepsy, idiopathic generalized 2 10.3 TARDBP H2AC18 C9orf72
18 amyotrophic lateral sclerosis type 22 10.3 TARDBP FUS C9orf72
19 ideomotor apraxia 10.3 TARDBP FUS C9orf72
20 nominal aphasia 10.3 TARDBP FUS C9orf72
21 aphasia 10.3 TARDBP FUS C9orf72
22 pica disease 10.3 TARDBP FUS C9orf72
23 dysgraphia 10.3 TARDBP FUS C9orf72
24 writing disorder 10.3 TARDBP FUS C9orf72
25 alzheimer disease 7 10.3 TARDBP FUS C9orf72
26 x-linked hereditary ataxia 10.3 PURA HNRNPA3 C9orf72
27 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.3 TARDBP FUS C9orf72
28 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.3 FUS C9orf72
29 locked-in syndrome 10.3 TARDBP FUS
30 amyotrophic lateral sclerosis type 14 10.3 UBQLN2 FUS
31 progressive bulbar palsy 10.3 FUS C9orf72
32 spinal and bulbar muscular atrophy, x-linked 1 10.3 TARDBP FUS C9orf72
33 epithelial-stromal tgfbi dystrophy 10.3 HNRNPA1 H2AC18 FUS
34 lattice corneal dystrophy 10.3 HNRNPA1 H2AC18 FUS
35 supranuclear palsy, progressive, 1 10.3 TARDBP FUS C9orf72
36 mental retardation, x-linked, syndromic, bain type 10.3 HNRNPH2 HNRNPH1
37 amyotrophic lateral sclerosis 19 10.3 UBQLN2 TARDBP
38 speech disorder 10.3 LGALS4 H2AC18 C9orf72
39 giant axonal neuropathy 2 10.3 UBQLN2 TARDBP FUS
40 amyotrophic lateral sclerosis type 12 10.2 UBQLN2 TARDBP FUS
41 amyotrophic lateral sclerosis 18 10.2 UBQLN2 FUS
42 spinocerebellar ataxia 8 10.2 PURA HNRNPH1 C9orf72
43 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.2 TARDBP FUS
44 spinal muscular atrophy 10.2 TARDBP HNRNPA1 FUS C9orf72
45 muscular atrophy 10.2 TARDBP HNRNPA1 FUS C9orf72
46 dementia, lewy body 10.2 TARDBP H2AC18 FUS C9orf72
47 myotonic disease 10.2 HNRNPH2 HNRNPH1 C9orf72
48 epidermolysis bullosa 10.2
49 nodular degeneration of cornea 10.2
50 epidermolysis bullosa simplex 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

Human phenotypes related to Dermatopathia Pigmentosa Reticularis:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 HP:0000966
2 nail dystrophy 31 HP:0008404
3 palmoplantar hyperkeratosis 31 HP:0000972
4 alopecia of scalp 31 HP:0002293
5 adermatoglyphia 31 HP:0007455
6 reticular hyperpigmentation 31 HP:0007588
7 abnormal conjunctiva morphology 31 HP:0000502
8 hypohidrosis or hyperhidrosis 31 HP:0007550
9 reticulate pigmentation of oral mucosa 31 HP:0012788

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Dermatopathia Pigmentosa Reticularis according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 MADD
2 Decreased viability GR00221-A-3 9.55 MADD
3 Decreased viability GR00221-A-4 9.55 FUS
4 Decreased viability GR00240-S-1 9.55 HNRNPH2
5 Decreased viability GR00249-S 9.55 DACT1 LGALS4 SMCR8 SUPT4H1 UBQLN2
6 Decreased viability GR00301-A 9.55 MADD
7 Decreased viability GR00381-A-1 9.55 DACT1
8 Decreased viability GR00386-A-1 9.55 HNRNPA3 LGALS4 UBQLN2
9 Decreased viability GR00402-S-2 9.55 DACT1 HNRNPA3 UBQLN2
10 Decreased Sindbis virus (SINV) infection GR00310-A-1 9.43 C9orf72 HNRNPH2 WDR41
11 Decreased Sindbis virus (SINV) infection GR00310-A-2 9.43 C9orf72 HNRNPH2 WDR41

Drugs & Therapeutics for Dermatopathia Pigmentosa Reticularis

Search Clinical Trials , NIH Clinical Center for Dermatopathia Pigmentosa Reticularis

Cochrane evidence based reviews: 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:

40
Bone, Brain

Publications for Dermatopathia Pigmentosa Reticularis

Articles related to Dermatopathia Pigmentosa Reticularis:

(show all 33)
# Title Authors PMID Year
1
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. 57 6 61
16960809 2006
2
Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. 57 6 61
1303619 1992
3
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. 57 61
12230514 2002
4
Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders. 61 57
9812038 1998
5
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. 57
10998145 2000
6
Clericuzio-type poikiloderma with neutropenia in a patient from India. 61
33111394 2021
7
Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria. 61
32995033 2020
8
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. 61
30968399 2019
9
Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy. 61
31008174 2019
10
Dermatopathia Pigmentosa Reticularis. 61
30983613 2019
11
Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review. 61
27512211 2016
12
Dermatopathia Pigmentosa Reticularis with Salzmann's nodular degeneration of cornea: A rare association. 61
26695611 2015
13
[Dermatopathia pigmentosa reticularis]. 61
24703653 2014
14
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. 61
23440032 2013
15
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? 61
21252004 2011
16
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. 61
20180888 2010
17
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. 61
19040520 2009
18
Early-onset gastric carcinoma in a man with dermatopathia pigmentosa reticularis. 61
18477171 2008
19
Dermatopathia pigmentosa reticularis. 61
17958818 2007
20
[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14]. 61
17657198 2007
21
Genomic imprinting and dermatological disease. 61
16901310 2006
22
Reticulate postinflammatory hyperpigmentation with band-like mucin deposition. 61
9865868 1998
23
A case of dermatopathia pigmentosa reticularis. 61
9164071 1997
24
Reticulate hyperpigmentation. 61
9125768 1997
25
Palmoplantar keratoderma associated with dermatopathia pigmentosa reticularis: successful treatment with etretinate. 61
7591467 1995
26
Dermatopathia pigmentosa reticularis. 61
8432934 1993
27
Dermatopathia pigmentosa reticularis. 61
2360843 1990
28
Primary disorders of hyperpigmentation. 61
6420449 1984
29
Congenital poikiloderma with traumatic bulla formation, anhidrosisi, and keratoderma. 61
92149 1979
30
Dermatopathia pigmentosa reticularis. 61
862219 1977
31
[The concept dermatopathia pigmentosa reticularis]. 61
4770615 1973
32
Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans. 61
5310556 1970
33
[Dermatopathia pigmentosa reticularis]. 61
13700166 1960

Variations for Dermatopathia Pigmentosa Reticularis

ClinVar genetic disease variations for Dermatopathia Pigmentosa Reticularis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT14 NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) SNV Pathogenic 14626 rs60831116 GRCh37: 17:39743033-39743033
GRCh38: 17:41586781-41586781
2 KRT14 NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) SNV Pathogenic 14616 rs60725382 GRCh37: 17:39740662-39740662
GRCh38: 17:41584410-41584410
3 KRT14 NM_000526.5(KRT14):c.1288C>T (p.Gln430Ter) SNV Pathogenic 1034249 GRCh37: 17:39739379-39739379
GRCh38: 17:41583127-41583127
4 KRT14 NM_000526.5(KRT14):c.526-2A>C SNV Pathogenic 66369 rs200779504 GRCh37: 17:39741311-39741311
GRCh38: 17:41585059-41585059

Expression for Dermatopathia Pigmentosa Reticularis

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

Pathways for Dermatopathia Pigmentosa Reticularis

Pathways related to Dermatopathia Pigmentosa Reticularis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 WDR41 UBQLN2 TARDBP SMCR8 HNRNPA3 HNRNPA1
2 11.27 WDR41 SMCR8 C9orf72

GO Terms for Dermatopathia Pigmentosa Reticularis

Cellular components related to Dermatopathia Pigmentosa Reticularis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 WDR41 UNC119 UBQLN2 THRA TARDBP SMCR8
2 nucleoplasm GO:0005654 10.11 THRA TARDBP SUPT4H1 SMCR8 RANGAP1 HNRNPH2
3 nucleus GO:0005634 10.06 UBQLN2 THRA TARDBP SUPT4H1 SMCR8 RANGAP1
4 catalytic step 2 spliceosome GO:0071013 9.58 HNRNPH1 HNRNPA3 HNRNPA1
5 ribonucleoprotein complex GO:1990904 9.56 HNRNPH2 HNRNPH1 HNRNPA3 HNRNPA1
6 guanyl-nucleotide exchange factor complex GO:0032045 9.13 WDR41 SMCR8 C9orf72
7 Atg1/ULK1 kinase complex GO:1990316 8.8 WDR41 SMCR8 C9orf72

Biological processes related to Dermatopathia Pigmentosa Reticularis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.77 TARDBP SUPT4H1 HNRNPH1 HNRNPA3 HNRNPA1
2 autophagy GO:0006914 9.71 WDR41 UBQLN2 SMCR8 C9orf72
3 regulation of autophagy GO:0010506 9.63 WDR41 SMCR8 C9orf72
4 RNA splicing GO:0008380 9.55 TARDBP HNRNPH1 HNRNPA3 HNRNPA1 FUS
5 regulation of RNA splicing GO:0043484 9.5 HNRNPH2 HNRNPH1 FUS
6 regulation of autophagosome assembly GO:2000785 9.48 UBQLN2 C9orf72
7 regulation of TORC1 signaling GO:1903432 9.43 SMCR8 C9orf72
8 mRNA splicing, via spliceosome GO:0000398 9.35 HNRNPH2 HNRNPH1 HNRNPA3 HNRNPA1 FUS
9 negative regulation of clathrin-dependent endocytosis GO:1900186 9.26 UNC119 UBQLN2
10 RNA metabolic process GO:0016070 8.92 HNRNPH2 HNRNPH1 HNRNPA3 HNRNPA1

Molecular functions related to Dermatopathia Pigmentosa Reticularis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.73 TARDBP HNRNPH2 HNRNPH1 HNRNPA3 HNRNPA1 FUS
2 protein binding GO:0005515 9.62 WDR41 UNC119 UBQLN2 THRA TARDBP SUPT4H1
3 RNA binding GO:0003723 9.56 TARDBP RANGAP1 PURA HNRNPH2 HNRNPH1 HNRNPA3
4 guanyl-nucleotide exchange factor activity GO:0005085 9.46 WDR41 SMCR8 MADD C9orf72

Sources for Dermatopathia Pigmentosa Reticularis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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