RAK
MCID: RTC008
MIFTS: 41

Reticulate Acropigmentation of Kitamura (RAK)

Categories: Genetic diseases, Rare diseases, Skin 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
Orphanet 59 ORPHA178307
UMLS via Orphanet 74 C0406811
ICD10 via Orphanet 34 L81.8
MedGen 42 C0406811
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, ovary and endothelial, and related phenotypes are hyperkeratosis and cellular

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 4�mm... 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 17)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 32.4 ADAM10 ADAR DKC1 KRT14 POFUT1
2 dowling-degos disease 1 10.9
3 malignant atrophic papulosis 10.9
4 alopecia 10.4
5 keratosis 10.4
6 breast cancer 10.3
7 dyschromatosis symmetrica hereditaria 10.2
8 dyschromatosis universalis hereditaria 3 10.2
9 dyschromatosis universalis hereditaria 10.2
10 ovarian cancer 10.0
11 retinoblastoma 10.0
12 rheumatoid arthritis 10.0
13 mammographic density 10.0
14 arthritis 10.0
15 angiosarcoma 10.0
16 pigmentation disease 9.9 ADAR POFUT1
17 adermatoglyphia 9.8 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 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

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)


Clinical features from OMIM:

615537

Human phenotypes related to Reticulate Acropigmentation of Kitamura:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962

MGI Mouse Phenotypes related to Reticulate Acropigmentation of Kitamura:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.01 ADAM10 ADAR CD151 DKC1 FKBP1A KRT14
2 growth/size/body region MP:0005378 9.92 ADAM10 ADAR CD151 DKC1 FKBP1A KRT14
3 homeostasis/metabolism MP:0005376 9.86 ADAM10 ADAR CD151 DKC1 FAM3B FKBP1A
4 embryo MP:0005380 9.77 ADAM10 ADAR DKC1 FKBP1A POFUT1
5 integument MP:0010771 9.76 ADAM10 ADAR CD151 DKC1 FKBP1A KRT14
6 mortality/aging MP:0010768 9.61 ADAM10 ADAR CD151 DKC1 FKBP1A KRT14
7 respiratory system MP:0005388 9.02 DKC1 FKBP1A KRT14 MYCBP2 POFUT1

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, Ovary, Endothelial, Prostate, Uterus

Publications for Reticulate Acropigmentation of Kitamura

Articles related to Reticulate Acropigmentation of Kitamura:

(show top 50) (show all 59)
# Title Authors Year
1
Successful treatment with pazopanib plus PD-1 inhibitor and RAK cells for advanced primary hepatic angiosarcoma: a case report. ( 29466964 )
2018
2
Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. ( 30488468 )
2018
3
Cross sectional study on lifelong learning's determinants among medical students in RAK Medical & Health Sciences University, UAE. ( 29540874 )
2018
4
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. ( 29192958 )
2017
5
Reticulate Acropigmentation of Kitamura and Nevus of Ito. ( 28388985 )
2017
6
The role of Rak in the regulation of stability and function of BRCA1. ( 29156836 )
2017
7
The Effects of Thai Herbal Ha-Rak Formula on COX Isoform Expression in Human Umbilical Vein Endothelial Cells Induced by IL-1β. ( 29234444 )
2017
8
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. ( 26892935 )
2016
9
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ( 26955585 )
2016
10
Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. ( 26708207 )
2016
11
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ( 29210541 )
2016
12
Rak błony śluzowej trzonu macicy u chorych po przebytej chorobie nowotworowej - aspekty kliniczne i molekularne. ( 27306283 )
2016
13
Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. ( 26265847 )
2015
14
Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura. ( 25639155 )
2015
15
A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation. ( 25473245 )
2014
16
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. ( 25229252 )
2014
17
Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. ( 23746125 )
2014
18
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ( 24891663 )
2014
19
Reticulate acropigmentation of Kitamura. ( 24222296 )
2013
20
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. ( 23666529 )
2013
21
Long-term patency of a RaK collagen vascular prosthesis - single centre results during a 10 year follow-up. ( 23253022 )
2013
22
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ( 22808308 )
2012
23
Acute and subchronic toxicity study of tud-rak-ka-sai-puu recipe in rats. ( 24082336 )
2012
24
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ( 21416772 )
2011
25
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ( 25386285 )
2011
26
Exploring Rak tyrosine kinase function in breast cancer. ( 19597351 )
2009
27
Microchimerism of the shared epitope in rheumatoid arthritis: comment on the article by Rak et al. ( 19950290 )
2009
28
Reticulate acropigmentation of Kitamura: report of a familial case. ( 19061567 )
2008
29
The tyrosine kinase FRK/RAK participates in cytokine-induced islet cell cytotoxicity. ( 15186217 )
2004
30
The FRK/RAK-SHB signaling cascade: a versatile signal-transduction pathway that regulates cell survival, differentiation and proliferation. ( 12776987 )
2003
31
Molecular identification of the skin transformation center of anuran larval skin using genes of Rana adult keratin (RAK) and SPARC as probes. ( 14706076 )
2003
32
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. ( 12207773 )
2002
33
Electrochemical detection of gene expression in tumor samples: overexpression of Rak nuclear tyrosine kinase. ( 11906252 )
2002
34
Characterization of mice deficient in the Src family nonreceptor tyrosine kinase Frk/rak. ( 12077350 )
2002
35
Vascular collagen prosthesis of RaK type--long-term patency. ( 11725393 )
2001
36
Reticulate acropigmentation of Kitamura: first case reports from Nepal. ( 11138543 )
2000
37
Reticulate acropigmentation of Kitamura: an unusual presentation. ( 11138548 )
2000
38
Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. ( 10681618 )
2000
39
Relevance of the viral RAK alpha gene in diagnosis of malignant versus nonmalignant tumors of the ovary and uterus. ( 10799446 )
2000
40
Immunohistochemical versus molecular detection of RAK antigens in breast cancer. ( 10891290 )
2000
41
Sporadic reticulate acropigmentation of Kitamura on pale skin. ( 10188160 )
1999
42
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. ( 9621148 )
1998
43
Prostate, breast and gynecological cancer markers RAK with homology to HIV-1. ( 9500213 )
1998
44
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. ( 9529553 )
1997
45
New protein and PCR markers RAK for diagnosis, prognosis and surgery guidance for breast cancer. ( 9029174 )
1997
46
Bony anomalies in a patient with reticulate acropigmentation of Kitamura. ( 8973039 )
1996
47
Diagnostic evaluation of cancer antigens RAK .1. Cervical and ovarian cancer. ( 21541570 )
1996
48
Reticulate acropigmentation of Kitamura: pigment specks and pits in unusual locations. ( 8043410 )
1994
49
Reticulate acropigmentation of Kitamura: two case reports. ( 8225713 )
1993
50
Treatment of reticulate acropigmentation of Kitamura with azelaic acid. ( 8408814 )
1993

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 regulation of protein localization GO:0032880 8.96 FKBP1A MYCBP2
2 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
Content
Loading form....