MCID: RTC008
MIFTS: 36

Reticulate Acropigmentation of Kitamura

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Reticulate Acropigmentation of Kitamura

MalaCards integrated aliases for Reticulate Acropigmentation of Kitamura:

Name: Reticulate Acropigmentation of Kitamura 57 12 59 75 29 6 15 40 73
Rak 57 59 75
Kitamura Reticulate Acropigmentation 57 75
Reticulate Pigmentation of Kitamura 57 75
Acropigmentatio Reticularis 57 75
Rpk 57 75
Reticulate Pigmentation of Kitamura; Rpk 57
Rapk 12

Characteristics:

Orphanet epidemiological data:

59
reticulate acropigmentation of kitamura
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade of life


HPO:

32
reticulate acropigmentation of kitamura:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 615537
Disease Ontology 12 DOID:0060258
SNOMED-CT 68 239133004
Orphanet 59 ORPHA178307
UMLS via Orphanet 74 C0406811
ICD10 via Orphanet 34 L81.8
MedGen 42 C0406811
SNOMED-CT via HPO 69 263681008
UMLS 73 C0406811

Summaries for Reticulate Acropigmentation of Kitamura

OMIM : 57 Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, partial alopecia, and occasionally plantar keratoderma. Histopathologically, the brown macules show pigmentation in the tip of rete ridges with thinning of the epidermis, elongation and thinning of the rete ridges, and slight hyperkeratosis without parakeratosis. Only a few inflammatory cell infiltrates and no incontinentia pigmenti are seen in the dermis (summary by Kono et al., 2013). (615537)

MalaCards based summary : Reticulate Acropigmentation of Kitamura, also known as rak, is related to dowling-degos disease and dowling-degos disease 1. An important gene associated with Reticulate Acropigmentation of Kitamura is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways is Notch Signaling Pathway (sino). Affiliated tissues include skin, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.

UniProtKB/Swiss-Prot : 75 Reticulate acropigmentation of Kitamura: A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia.

Wikipedia : 76 Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to... more...

Related Diseases for Reticulate Acropigmentation of Kitamura

Diseases related to Reticulate Acropigmentation of Kitamura via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 32.6 ADAM10 ADAR POFUT1
2 dowling-degos disease 1 10.8
3 malignant atrophic papulosis 10.8
4 keratosis 10.3
5 dyschromatosis symmetrica hereditaria 10.1
6 dyschromatosis universalis hereditaria 3 10.1
7 dyschromatosis universalis hereditaria 10.1
8 breast cancer 9.9
9 retinoblastoma 9.9
10 mammographic density 9.9
11 pigmentation disease 9.8 ADAR POFUT1
12 adermatoglyphia 9.5 DKC1 KRT14

Graphical network of the top 20 diseases related to Reticulate Acropigmentation of Kitamura:



Diseases related to Reticulate Acropigmentation of Kitamura

Symptoms & Phenotypes for Reticulate Acropigmentation of Kitamura

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
reticulate hyperpigmented macules which darken over time and appear initially on dorsa of hands and feet but progress to flexor aspects of proximal extremities
breaks in epidermal ridges of palms and fingers
palmoplantar pits
plantar keratoderma (in some patients)

Skin Nails Hair Hair:
partial alopecia

Skin Nails Hair Skin Histology:
pigmentation in tip of rete ridges
epidermal thinning
elongation and thinning of rete ridges
slight hyperkeratosis
few inflammatory cell infiltrates


Clinical features from OMIM:

615537

MGI Mouse Phenotypes related to Reticulate Acropigmentation of Kitamura:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.01 FKBP1A ADAM10 KRT14 ADAR LRPAP1 CD151
2 growth/size/body region MP:0005378 9.92 FKBP1A ADAM10 KRT14 ADAR CD151 MYCBP2
3 homeostasis/metabolism MP:0005376 9.86 FKBP1A ADAM10 KRT14 ADAR LRPAP1 CD151
4 embryo MP:0005380 9.77 FKBP1A ADAM10 ADAR POFUT1 DKC1
5 integument MP:0010771 9.7 KRT14 ADAR CD151 MYCBP2 DKC1 POFUT1
6 mortality/aging MP:0010768 9.61 ADAM10 KRT14 ADAR LRPAP1 CD151 MYCBP2
7 respiratory system MP:0005388 9.02 FKBP1A KRT14 MYCBP2 POFUT1 DKC1

Drugs & Therapeutics for Reticulate Acropigmentation of Kitamura

Search Clinical Trials , NIH Clinical Center for Reticulate Acropigmentation of Kitamura

Genetic Tests for Reticulate Acropigmentation of Kitamura

Genetic tests related to Reticulate Acropigmentation of Kitamura:

# Genetic test Affiliating Genes
1 Reticulate Acropigmentation of Kitamura 29 ADAM10

Anatomical Context for Reticulate Acropigmentation of Kitamura

MalaCards organs/tissues related to Reticulate Acropigmentation of Kitamura:

41
Skin

Publications for Reticulate Acropigmentation of Kitamura

Articles related to Reticulate Acropigmentation of Kitamura:

(show all 27)
# Title Authors Year
1
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. ( 29192958 )
2017
2
Reticulate Acropigmentation of Kitamura and Nevus of Ito. ( 28388985 )
2017
3
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. ( 26892935 )
2016
4
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
5
Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. ( 26708207 )
2016
6
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
7
Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. ( 26265847 )
2015
8
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
9
A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation. ( 25473245 )
2014
10
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
11
Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. ( 23746125 )
2014
12
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
13
Reticulate acropigmentation of Kitamura. ( 24222296 )
2013
14
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
15
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
16
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
17
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
18
Reticulate acropigmentation of Kitamura: report of a familial case. ( 19061567 )
2008
19
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. ( 12207773 )
2002
20
Reticulate acropigmentation of Kitamura: first case reports from Nepal. ( 11138543 )
2000
21
Reticulate acropigmentation of Kitamura: an unusual presentation. ( 11138548 )
2000
22
Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. ( 10681618 )
2000
23
Sporadic reticulate acropigmentation of Kitamura on pale skin. ( 10188160 )
1999
24
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. ( 9621148 )
1998
25
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. ( 9529553 )
1997
26
Bony anomalies in a patient with reticulate acropigmentation of Kitamura. ( 8973039 )
1996
27
Reticulate acropigmentation of Kitamura. ( 823955 )
1976

Variations for Reticulate Acropigmentation of Kitamura

UniProtKB/Swiss-Prot genetic disease variations for Reticulate Acropigmentation of Kitamura:

75
# Symbol AA change Variation ID SNP ID
1 ADAM10 p.Pro139Ser VAR_070907 rs483352912
2 ADAM10 p.Cys524Tyr VAR_070910 rs483352916

ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAM10 NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser) single nucleotide variant Pathogenic rs483352912 GRCh37 Chromosome 15, 58971392: 58971392
2 ADAM10 NM_001110.3(ADAM10): c.415C> T (p.Pro139Ser) single nucleotide variant Pathogenic rs483352912 GRCh38 Chromosome 15, 58679193: 58679193
3 ADAM10 NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn) single nucleotide variant Pathogenic rs483352913 GRCh37 Chromosome 15, 58913670: 58913670
4 ADAM10 NM_001110.3(ADAM10): c.1511G> A (p.Ser504Asn) single nucleotide variant Pathogenic rs483352913 GRCh38 Chromosome 15, 58621471: 58621471
5 ADAM10 NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs483352914 GRCh37 Chromosome 15, 58971378: 58971378
6 ADAM10 NM_001110.3(ADAM10): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs483352914 GRCh38 Chromosome 15, 58679179: 58679179
7 ADAM10 NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs) deletion Pathogenic rs483352915 GRCh37 Chromosome 15, 58919995: 58919995
8 ADAM10 NM_001110.3(ADAM10): c.1264delA (p.Thr422Hisfs) deletion Pathogenic rs483352915 GRCh38 Chromosome 15, 58627796: 58627796
9 ADAM10 NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr) single nucleotide variant Pathogenic rs483352916 GRCh37 Chromosome 15, 58904131: 58904131
10 ADAM10 NM_001110.3(ADAM10): c.1571G> A (p.Cys524Tyr) single nucleotide variant Pathogenic rs483352916 GRCh38 Chromosome 15, 58611932: 58611932

Expression for Reticulate Acropigmentation of Kitamura

Search GEO for disease gene expression data for Reticulate Acropigmentation of Kitamura.

Pathways for Reticulate Acropigmentation of Kitamura

Pathways related to Reticulate Acropigmentation of Kitamura according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.17 ADAM10 POFUT1

GO Terms for Reticulate Acropigmentation of Kitamura

Biological processes related to Reticulate Acropigmentation of Kitamura according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemidesmosome assembly GO:0031581 8.62 CD151 KRT14

Sources for Reticulate Acropigmentation of Kitamura

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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