RAK
MCID: RTC008
MIFTS: 42

Reticulate Acropigmentation of Kitamura (RAK)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Reticulate Acropigmentation of Kitamura

MalaCards integrated aliases for Reticulate Acropigmentation of Kitamura:

Name: Reticulate Acropigmentation of Kitamura 57 11 58 73 28 5 14 38 71 75
Rak 57 58 73
Kitamura Reticulate Acropigmentation 57 73
Reticulate Pigmentation of Kitamura 57 73
Acropigmentatio Reticularis 57 73
Rpk 57 73
Rapk 11

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in first or second decade of life


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0060258
OMIM® 57 615537
OMIM Phenotypic Series 57 PS179850
MeSH 43 D010859
SNOMED-CT 68 239133004
ICD10 via Orphanet 32 L81.8
UMLS via Orphanet 72 C0406811
Orphanet 58 ORPHA178307
MedGen 40 C0406811
SNOMED-CT via HPO 69 26996000 396228006 399955009
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Reticulate Acropigmentation of Kitamura, also known as rak, is related to dowling-degos disease 1 and dowling-degos disease. An important gene associated with Reticulate Acropigmentation of Kitamura is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Pre-NOTCH Expression and Processing and Keratinization. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.

Disease Ontology: 11 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.

Wikipedia: 75 Reticulate acropigmentation of Kitamura is a type of pigmentation disorder of the skin. It presents with... 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 top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 1 31.2 KRT5 ADAM10
2 dowling-degos disease 31.0 SASH1 POGLUT1 POFUT1 KRT5 KRT4 KRT14
3 dyschromatosis symmetrica hereditaria 30.8 SASH1 ADAR
4 dyschromatosis universalis hereditaria 30.0 SASH1 KRT5 ADAR
5 erythrokeratoderma ''en cocardes'' 10.9
6 malignant atrophic papulosis 10.9
7 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
8 epidermoid cysts 10.5
9 dyschromatosis universalis hereditaria 3 10.5
10 skin disease 10.5
11 alzheimer disease, familial, 1 10.3
12 alzheimer disease 2 10.3
13 keratosis, seborrheic 10.3
14 ataxia with vitamin e deficiency 10.3
15 hypomelanosis of ito 10.3
16 dowling-degos disease 2 10.3
17 alzheimer disease 19 10.3
18 aicardi-goutieres syndrome 10.3
19 keratosis 10.3
20 gingival overgrowth 10.3
21 alopecia 10.3
22 posttransplant acute limbic encephalitis 10.3
23 rare genetic skin disease 10.3
24 aicardi-goutieres syndrome 6 10.1
25 deficiency anemia 10.1
26 anal canal squamous cell carcinoma 10.1 POGLUT1 KRT5
27 spondylocostal dysostosis 3, autosomal recessive 10.1 POGLUT1 POFUT1
28 spondylocostal dysostosis 10.1 POGLUT1 POFUT1
29 autosomal dominant generalized epidermolysis bullosa simplex, severe form 10.0 KRT5 KRT14
30 epidermolysis bullosa simplex 1b, generalized intermediate 10.0 KRT5 KRT14
31 epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive 10.0 KRT5 KRT14
32 retinoblastoma 10.0
33 proliferative type fibrocystic change of breast 10.0 KRT5 KRT14
34 nodular hidradenoma 10.0 KRT5 KRT14
35 benign breast adenomyoepithelioma 10.0 KRT5 KRT14
36 breast adenomyoepithelioma 10.0 KRT5 KRT14
37 ceruminous adenocarcinoma 10.0 KRT5 KRT14
38 breast myoepithelial neoplasm 10.0 KRT5 KRT14
39 sublingual gland adenoid cystic carcinoma 10.0 KRT5 KRT14
40 breast myoepithelial carcinoma 10.0 KRT5 KRT14
41 myoepithelial carcinoma 10.0 KRT5 KRT14
42 lipoadenoma 10.0 KRT5 KRT14
43 epidermolysis bullosa simplex generalized type 10.0 KRT5 KRT14
44 epidermolysis bullosa simplex 1c, localized 10.0 KRT5 KRT14
45 sublingual gland cancer 10.0 KRT5 KRT14
46 breast intraductal proliferative lesion 10.0 KRT5 KRT14
47 lipid-rich carcinoma 10.0 KRT5 KRT14
48 breast metaplastic carcinoma 10.0 KRT5 KRT14
49 odontoma 10.0 KRT5 KRT14
50 squamous cell bile duct carcinoma 10.0 KRT5 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

Human phenotypes related to Reticulate Acropigmentation of Kitamura:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 30 HP:0000962

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.58 KRT5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.58 KRT4 POFUT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.58 KRT4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.58 KRT5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.58 KRT4 POFUT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.58 KRT5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.58 KRT5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.58 POFUT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.58 KRT5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.58 KRT4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.58 KRT4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.58 POFUT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.58 POFUT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 POFUT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.58 KRT4 KRT5

MGI Mouse Phenotypes related to Reticulate Acropigmentation of Kitamura:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 ADAM10 ADAR KRT14 KRT4 KRT5 POFUT1
2 mortality/aging MP:0010768 9.56 ADAM10 ADAR KRT14 KRT4 KRT5 POFUT1
3 embryo MP:0005380 9.55 ADAM10 ADAR POFUT1 POGLUT1 SASH1
4 integument MP:0010771 9.1 ADAM10 ADAR KRT14 KRT4 KRT5 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 28 ADAM10

Anatomical Context for Reticulate Acropigmentation of Kitamura

Organs/tissues related to Reticulate Acropigmentation of Kitamura:

MalaCards : Skin
ODiseA: Skin

Publications for Reticulate Acropigmentation of Kitamura

Articles related to Reticulate Acropigmentation of Kitamura:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. 62 57 5
23666529 2013
2
Reticulate acropigmentation of Kitamura. 62 57
823955 1976
3
The spectrum of reticulate pigment disorders of the skin revisited. 57
23018017 2012
4
Reticulate pigmentary disorders--a review. 57
6386246 1984
5
[A special form of acropigmentation: acropigmentation reticularis]. 57
13068777 1953
6
Correction: Novel Presentation of Reticulate Acropigmentation of Kitamura With Bilateral Clinodactyly. 62
36039122 2022
7
Novel Presentation of Reticulate Acropigmentation of Kitamura With Bilateral Clinodactyly. 62
35978738 2022
8
Rap Protein Paralogs of Bacillus thuringiensis: a Multifunctional and Redundant Regulatory Repertoire for the Control of Collective Functions. 62
31871034 2020
9
Reticulate Acropigmentation of Kitamura: A Dermoscopic Perspective. 62
32055533 2020
10
Pigmented Palmar Pits in Reticulate Acropigmentation of Kitamura. 62
32055524 2020
11
Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. 62
30488468 2019
12
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 62
30692041 2019
13
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. 62
29192958 2017
14
Updated review of genetic reticulate pigmentary disorders. 62
28407215 2017
15
Reticulate Acropigmentation of Kitamura and Nevus of Ito. 62
28388985 2017
16
Insights into the metabolic mechanism of rapamycin overproduction in the shikimate-resistant Streptomyces hygroscopicus strain UV-II using comparative metabolomics. 62
28466297 2017
17
Enhancement of rapamycin production by metabolic engineering in Streptomyces hygroscopicus based on genome-scale metabolic model. 62
27909940 2017
18
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. 62
29201043 2017
19
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. 62
26892935 2016
20
An Efficient Method To Generate Gene Deletion Mutants of the Rapamycin-Producing Bacterium Streptomyces iranensis HM 35. 62
27037115 2016
21
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. 62
29210541 2016
22
Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. 62
26708207 2016
23
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. 62
26955585 2016
24
Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura. 62
25639155 2015
25
Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. 62
26265847 2015
26
Acropigmentation of Kitamura with immigration delay disease: A rare entity. 62
26009721 2015
27
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. 62
25229252 2015
28
Sporulation during growth in a gut isolate of Bacillus subtilis. 62
25225273 2014
29
A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation. 62
25473245 2014
30
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. 62
24891663 2014
31
Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. 62
23746125 2014
32
Reticulate acropigmentation of Kitamura. 62
24222296 2013
33
Mutational biosynthesis of tacrolimus analogues by fkbO deletion mutant of Streptomyces sp. KCTC 11604BP. 62
23392766 2013
34
Recombinant strains for the enhanced production of bioengineered rapalogs. 62
23164580 2013
35
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. 62
22808308 2012
36
Treatment of reticulated acropigmentation of Kitamura with Q-switched alexandrite laser. 62
22126882 2011
37
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. 62
25386285 2011
38
Biosynthesis of the immunosuppressants FK506, FK520, and rapamycin involves a previously undescribed family of enzymes acting on chorismate. 62
21383123 2011
39
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. 62
21416772 2011
40
Dowling-Degos disease. 62
20191141 2010
41
Reticulate acropigmentation of Kitamura: report of a familial case. 62
19061567 2008
42
Modulation of the ComA-dependent quorum response in Bacillus subtilis by multiple Rap proteins and Phr peptides. 62
16816200 2006
43
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 62
15955093 2005
44
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. 62
12207773 2002
45
Acid stress in the food pathogen Bacillus cereus. 62
11872115 2002
46
Reticulate acropigmentation of Kitamura: first case reports from Nepal. 62
11138543 2000
47
Reticulate acropigmentation of Kitamura: an unusual presentation. 62
11138548 2000
48
A case of Dowling-Degos disease suggesting an evolutional sequence. 62
11052235 2000
49
Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. 62
10681618 2000
50
Sporadic reticulate acropigmentation of Kitamura on pale skin. 62
10188160 1999

Variations for Reticulate Acropigmentation of Kitamura

ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAM10 NM_001110.4(ADAM10):c.415C>T (p.Pro139Ser) SNV Pathogenic
88839 rs483352912 GRCh37: 15:58971392-58971392
GRCh38: 15:58679193-58679193
2 ADAM10 NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn) SNV Pathogenic
88840 rs483352913 GRCh37: 15:58913670-58913670
GRCh38: 15:58621471-58621471
3 ADAM10 NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter) SNV Pathogenic
88841 rs483352914 GRCh37: 15:58971378-58971378
GRCh38: 15:58679179-58679179
4 ADAM10 NM_001110.4(ADAM10):c.1264del (p.Thr422fs) DEL Pathogenic
88842 rs483352915 GRCh37: 15:58919995-58919995
GRCh38: 15:58627796-58627796
5 ADAM10 NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr) SNV Pathogenic
88843 rs483352916 GRCh37: 15:58904131-58904131
GRCh38: 15:58611932-58611932

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

73
# Symbol AA change Variation ID SNP ID
1 ADAM10 p.Pro139Ser VAR_070907 rs483352912
2 ADAM10 p.Cys524Tyr VAR_070910 rs483352916

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
Show member pathways
12.21 POGLUT1 POFUT1 ADAM10
2
Show member pathways
11.97 KRT5 KRT4 KRT14
3
Show member pathways
11.62 KRT5 KRT4 KRT14
4 11.21 KRT5 KRT14
5 10.83 KRT5 KRT14
6 10.1 POFUT1 ADAM10

GO Terms for Reticulate Acropigmentation of Kitamura

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.43 KRT5 KRT4 KRT14
2 keratin filament GO:0045095 9.1 KRT5 KRT4 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 somitogenesis GO:0001756 9.46 POGLUT1 POFUT1
2 intermediate filament organization GO:0045109 9.43 KRT5 KRT4 KRT14
3 regulation of Notch signaling pathway GO:0008593 9.02 POGLUT1 POFUT1 ADAM10

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of skin epidermis GO:0030280 8.92 KRT5 KRT4

Sources for Reticulate Acropigmentation of Kitamura

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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