RAK
MCID: RTC008
MIFTS: 40

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 56 12 58 73 29 6 15 39 71
Rak 56 58 73
Kitamura Reticulate Acropigmentation 56 73
Reticulate Pigmentation of Kitamura 56 73
Acropigmentatio Reticularis 56 73
Rpk 56 73
Reticulate Pigmentation of Kitamura; Rpk 56
Rapk 12

Characteristics:

Orphanet epidemiological data:

58
reticulate acropigmentation of kitamura
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade of life


HPO:

31
reticulate acropigmentation of kitamura:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060258
OMIM 56 615537
OMIM Phenotypic Series 56 PS179850
MeSH 43 D010859
SNOMED-CT 67 239133004
ICD10 via Orphanet 33 L81.8
UMLS via Orphanet 72 C0406811
Orphanet 58 ORPHA178307
MedGen 41 C0406811
UMLS 71 C0406811

Summaries for Reticulate Acropigmentation of Kitamura

OMIM : 56 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 dyschromatosis universalis hereditaria. An important gene associated with Reticulate Acropigmentation of Kitamura is ADAM10 (ADAM Metallopeptidase Domain 10), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related phenotypes are hyperkeratosis and Decreased shRNA abundance (Z-score < -2)

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 : 73 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 : 74 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 top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 30.6 POGLUT1 POFUT1 KRT5 KRT4 KRT14 DKC1
2 dyschromatosis universalis hereditaria 29.9 KRT5 KRT4 ADAR ADAM10
3 erythrokeratoderma ''en cocardes'' 11.0
4 malignant atrophic papulosis 11.0
5 dowling-degos disease 1 10.8
6 dyschromatosis symmetrica hereditaria 10.6
7 epidermoid cysts 10.6
8 alzheimer disease 10.4
9 keratosis, seborrheic 10.4
10 keratosis 10.4
11 inverted follicular keratosis 10.4
12 alopecia 10.4
13 posttransplant acute limbic encephalitis 10.4
14 rare genetic skin disease 10.4
15 breast cancer 10.3
16 hemolytic anemia 10.3
17 retinoblastoma 10.2
18 familial retinoblastoma 10.2
19 cloacogenic carcinoma 10.1 KRT5 KRT4
20 benign breast adenomyoepithelioma 10.1 KRT5 KRT14
21 aortic aneurysm, familial abdominal, 1 10.1
22 ovarian cancer 10.1
23 rheumatoid arthritis 10.1
24 cervical cancer 10.1
25 mammographic density 10.1
26 human immunodeficiency virus type 1 10.1
27 angiosarcoma 10.1
28 euthyroid sick syndrome 10.1
29 serous cystadenocarcinoma 10.1
30 aortic aneurysm 10.1
31 sporadic breast cancer 10.1
32 47,xyy 10.1
33 cytokine deficiency 10.1
34 breast adenomyoepithelioma 10.1 KRT5 KRT14
35 ceruminous adenocarcinoma 10.1 KRT5 KRT14
36 breast myoepithelial neoplasm 10.1 KRT5 KRT14
37 squamous cell bile duct carcinoma 10.1 KRT5 KRT14
38 breast metaplastic carcinoma 10.1 KRT5 KRT14
39 epidermolysis bullosa simplex, autosomal recessive 1 10.1 KRT5 KRT14
40 odontoma 10.1 KRT5 KRT14
41 micronodular basal cell carcinoma 10.1 KRT5 KRT14
42 breast myoepithelial carcinoma 10.1 KRT5 KRT14
43 lipid-rich carcinoma 10.1 KRT5 KRT14
44 large cell acanthoma 10.1 KRT5 KRT14
45 eccrine acrospiroma 10.1 KRT5 KRT14
46 eccrine sweat gland neoplasm 10.1 KRT5 KRT14
47 eccrine papillary adenocarcinoma 10.1 KRT5 KRT14
48 epidermolysis bullosa simplex, localized 10.1 KRT5 KRT14
49 apocrine sweat gland neoplasm 10.0 KRT5 KRT14
50 clear cell basal cell 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:

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962

Symptoms via clinical synopsis from OMIM:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.28 CWC15
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.28 KRT4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 9.28 KRT4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.28 POFUT1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.28 CWC15
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.28 CWC15
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.28 KRT4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.28 KRT4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.28 POFUT1

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 9.81 ADAM10 ADAR DKC1 KRT14 KRT4 KRT5
2 endocrine/exocrine gland MP:0005379 9.73 ADAM10 DKC1 KRT14 LRPAP1 POFUT1 POGLUT1
3 integument MP:0010771 9.56 ADAM10 ADAR DKC1 KRT14 KRT4 KRT5
4 mortality/aging MP:0010768 9.32 ADAM10 ADAR DKC1 KRT14 KRT4 KRT5

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:

40
Skin

Publications for Reticulate Acropigmentation of Kitamura

Articles related to Reticulate Acropigmentation of Kitamura:

(show top 50) (show all 54)
# 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. 6 56 61
23666529 2013
2
Reticulate acropigmentation of Kitamura. 56 61
823955 1976
3
The spectrum of reticulate pigment disorders of the skin revisited. 56
23018017 2012
4
Reticulate pigmentary disorders--a review. 56
6386246 1984
5
[A special form of acropigmentation: acropigmentation reticularis]. 56
13068777 1953
6
Reticulate Acropigmentation of Kitamura: A Dermoscopic Perspective. 61
32055533 2020
7
Pigmented Palmar Pits in Reticulate Acropigmentation of Kitamura. 61
32055524 2020
8
Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. 61
30488468 2019
9
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 61
30692041 2019
10
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. 61
29192958 2017
11
Updated review of genetic reticulate pigmentary disorders. 61
28407215 2017
12
Reticulate Acropigmentation of Kitamura and Nevus of Ito. 61
28388985 2017
13
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. 61
29201043 2017
14
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. 61
26892935 2016
15
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. 61
29210541 2016
16
Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. 61
26708207 2016
17
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. 61
26955585 2016
18
Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura. 61
25639155 2015
19
Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. 61
26265847 2015
20
Acropigmentation of Kitamura with immigration delay disease: A rare entity. 61
26009721 2015
21
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. 61
25229252 2015
22
A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation. 61
25473245 2014
23
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. 61
24891663 2014
24
Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. 61
23746125 2014
25
Reticulate acropigmentation of Kitamura. 61
24222296 2013
26
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. 61
22808308 2012
27
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. 61
25386285 2011
28
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. 61
21416772 2011
29
Dowling-Degos disease. 61
20191141 2010
30
Reticulate acropigmentation of Kitamura: report of a familial case. 61
19061567 2008
31
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. 61
12207773 2002
32
Reticulate acropigmentation of Kitamura: an unusual presentation. 61
11138548 2000
33
Reticulate acropigmentation of Kitamura: first case reports from Nepal. 61
11138543 2000
34
A case of Dowling-Degos disease suggesting an evolutional sequence. 61
11052235 2000
35
Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. 61
10681618 2000
36
Sporadic reticulate acropigmentation of Kitamura on pale skin. 61
10188160 1999
37
Is the heredity of reticulate acro pigmentation of Kitamura always autosomal dominant? 61
9519613 1998
38
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. 61
9621148 1998
39
Familial reticulate acropigmentation of Dohi. 61
9366859 1997
40
Reticulate hyperpigmentation. 61
9125768 1997
41
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. 61
9529553 1997
42
Bony anomalies in a patient with reticulate acropigmentation of Kitamura. 61
8973039 1996
43
Spectrum of reticulate flexural and acral pigmentary disorders in northern India. 61
7962960 1994
44
Reticulate acropigmentation of Kitamura: pigment specks and pits in unusual locations. 61
8043410 1994
45
Treatment of reticulate acropigmentation of Kitamura with azelaic acid. 61
8408814 1993
46
Reticulate acropigmentation of Kitamura: two case reports. 61
8225713 1993
47
Treatment of reticulate acropigmentation of Kitamura with azelaic acid. An immunohistochemical and electron microscopic study. 61
1613143 1992
48
Reticulate acropigmentation of Kitamura: a case report. 61
1607491 1992
49
Reticulate acropigmentation of Kitamura with localized alopecia. 61
1880240 1991
50
Reticulate acropigmentation of Kitamura. 61
2335418 1990

Variations for Reticulate Acropigmentation of Kitamura

ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAM10 NM_001110.4(ADAM10):c.415C>T (p.Pro139Ser)SNV Pathogenic 88839 rs483352912 15:58971392-58971392 15:58679193-58679193
2 ADAM10 NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn)SNV Pathogenic 88840 rs483352913 15:58913670-58913670 15:58621471-58621471
3 ADAM10 NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter)SNV Pathogenic 88841 rs483352914 15:58971378-58971378 15:58679179-58679179
4 ADAM10 NM_001110.4(ADAM10):c.1264del (p.Thr422fs)deletion Pathogenic 88842 rs483352915 15:58919995-58919995 15:58627796-58627796
5 ADAM10 NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr)SNV Pathogenic 88843 rs483352916 15:58904131-58904131 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
11.59 KRT5 KRT4 KRT14
2
Show member pathways
10.83 KRT5 KRT4 KRT14

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 9.13 KRT5 KRT4 KRT14
2 keratin filament GO:0045095 8.8 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 keratinization GO:0031424 9.43 KRT5 KRT4 KRT14
2 protein O-linked glycosylation GO:0006493 9.37 POGLUT1 POFUT1
3 cornification GO:0070268 9.33 KRT5 KRT4 KRT14
4 somitogenesis GO:0001756 9.32 POGLUT1 POFUT1
5 hemidesmosome assembly GO:0031581 8.96 KRT5 KRT14
6 regulation of Notch signaling pathway GO:0008593 8.8 POGLUT1 POFUT1 ADAM10

Sources for Reticulate Acropigmentation of Kitamura

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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