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 74 29 6 15 40 72
Rak 57 59 74
Kitamura Reticulate Acropigmentation 57 74
Reticulate Pigmentation of Kitamura 57 74
Acropigmentatio Reticularis 57 74
Rpk 57 74
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:

Disease Ontology 12 DOID:0060258
ICD10 via Orphanet 34 L81.8
UMLS via Orphanet 73 C0406811
Orphanet 59 ORPHA178307
MedGen 42 C0406811
UMLS 72 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 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 Presenilin action in Notch and Wnt signaling and Canonical and Non-canonical Notch signaling. Affiliated tissues include skin, 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 : 74 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 : 75 Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm... more...

Related Diseases for Reticulate Acropigmentation of Kitamura

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:

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

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

MGI Mouse Phenotypes related to Reticulate Acropigmentation of Kitamura:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 ADAM10 ADAR CD151 DKC1 FKBP1A LRPAP1
2 growth/size/body region MP:0005378 9.85 ADAM10 ADAR CD151 DKC1 FKBP1A KRT4
3 embryo MP:0005380 9.73 ADAM10 ADAR DKC1 FKBP1A NOTCH1 POFUT1
4 integument MP:0010771 9.65 ADAM10 ADAR CD151 DKC1 FKBP1A KRT4
5 mortality/aging MP:0010768 9.36 ADAM10 ADAR CD151 DKC1 FKBP1A KRT4

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 top 50) (show all 52)
# 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. 38 8 71
23666529 2013
2
Reticulate acropigmentation of Kitamura. 38 8
823955 1976
3
The spectrum of reticulate pigment disorders of the skin revisited. 8
23018017 2012
4
Reticulate pigmentary disorders--a review. 8
6386246 1984
5
[A special form of acropigmentation: acropigmentation reticularis]. 8
13068777 1953
6
Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. 38
30488468 2019
7
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. 38
30692041 2019
8
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. 38
29192958 2017
9
Updated review of genetic reticulate pigmentary disorders. 38
28407215 2017
10
Reticulate Acropigmentation of Kitamura and Nevus of Ito. 38
28388985 2017
11
Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. 38
29201043 2017
12
Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. 38
26892935 2016
13
Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. 38
29210541 2016
14
Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. 38
26708207 2016
15
Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. 38
26955585 2016
16
Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura. 38
25639155 2015
17
Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. 38
26265847 2015
18
Acropigmentation of Kitamura with immigration delay disease: A rare entity. 38
26009721 2015
19
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. 38
25229252 2015
20
A Case of Reticulate Acropigmentation of Kitamura Treated with 532-nm Q-Switched Nd:YAG Laser: 10 Years of Follow-Up Observation. 38
25473245 2014
21
A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. 38
24891663 2014
22
Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. 38
23746125 2014
23
Reticulate acropigmentation of Kitamura. 38
24222296 2013
24
Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. 38
22808308 2012
25
Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. 38
25386285 2011
26
Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. 38
21416772 2011
27
Dowling-Degos disease. 38
20191141 2010
28
Reticulate acropigmentation of Kitamura: report of a familial case. 38
19061567 2008
29
Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. 38
12207773 2002
30
Reticulate acropigmentation of Kitamura: an unusual presentation. 38
11138548 2000
31
Reticulate acropigmentation of Kitamura: first case reports from Nepal. 38
11138543 2000
32
A case of Dowling-Degos disease suggesting an evolutional sequence. 38
11052235 2000
33
Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. 38
10681618 2000
34
Sporadic reticulate acropigmentation of Kitamura on pale skin. 38
10188160 1999
35
Is the heredity of reticulate acro pigmentation of Kitamura always autosomal dominant? 38
9519613 1998
36
Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. 38
9621148 1998
37
Familial reticulate acropigmentation of Dohi. 38
9366859 1997
38
Reticulate hyperpigmentation. 38
9125768 1997
39
Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. 38
9529553 1997
40
Bony anomalies in a patient with reticulate acropigmentation of Kitamura. 38
8973039 1996
41
Spectrum of reticulate flexural and acral pigmentary disorders in northern India. 38
7962960 1994
42
Reticulate acropigmentation of Kitamura: pigment specks and pits in unusual locations. 38
8043410 1994
43
Reticulate acropigmentation of Kitamura: two case reports. 38
8225713 1993
44
Treatment of reticulate acropigmentation of Kitamura with azelaic acid. 38
8408814 1993
45
Treatment of reticulate acropigmentation of Kitamura with azelaic acid. An immunohistochemical and electron microscopic study. 38
1613143 1992
46
Reticulate acropigmentation of Kitamura: a case report. 38
1607491 1992
47
Reticulate acropigmentation of Kitamura with localized alopecia. 38
1880240 1991
48
Reticulate acropigmentation of Kitamura. 38
2335418 1990
49
Reticulate acropigmentation of Kitamura. 38
2591095 1989
50
Behavior of melanocytes in reticulate acropigmentation of Kitamura. 38
3994414 1985

Variations for Reticulate Acropigmentation of Kitamura

ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADAM10 NM_001110.4(ADAM10): c.415C> T (p.Pro139Ser) single nucleotide variant Pathogenic rs483352912 15:58971392-58971392 15:58679193-58679193
2 ADAM10 NM_001110.4(ADAM10): c.1511G> A (p.Ser504Asn) single nucleotide variant Pathogenic rs483352913 15:58913670-58913670 15:58621471-58621471
3 ADAM10 NM_001110.4(ADAM10): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs483352914 15:58971378-58971378 15:58679179-58679179
4 ADAM10 NM_001110.4(ADAM10): c.1264del (p.Thr422fs) deletion Pathogenic rs483352915 15:58919995-58919995 15:58627796-58627796
5 ADAM10 NM_001110.4(ADAM10): c.1571G> A (p.Cys524Tyr) single nucleotide variant Pathogenic rs483352916 15:58904131-58904131 15:58611932-58611932

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

74
# 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 10.82 NOTCH1 ADAM10
2 10.39 NOTCH1 ADAM10
3 10.34 POFUT1 NOTCH1 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 cell surface GO:0009986 9.02 NOTCH1 LRPAP1 KRT4 CD151 ADAM10

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.5 NOTCH1 CD151 ADAM10
2 positive regulation of viral genome replication GO:0045070 9.26 NOTCH1 ADAR
3 regulation of Notch signaling pathway GO:0008593 9.16 POFUT1 NOTCH1
4 Notch signaling pathway GO:0007219 9.13 POFUT1 NOTCH1 ADAM10
5 hemidesmosome assembly GO:0031581 8.62 KRT5 CD151

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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