Reticulate Acropigmentation of Kitamura disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RAK MCID: RTC008 MIFTS: 42	Reticulate Acropigmentation of Kitamura (RAK) Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

Other disorders of pigmentation

Other specified disorders of pigmentation

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0060258

OMIM ⁵⁶ 615537

OMIM Phenotypic Series ⁵⁶ PS179850

MeSH ⁴³ C562924 D010859

ICD10 via Orphanet ³³ L81.8

UMLS via Orphanet ⁷² C0406811

Orphanet ⁵⁸ ORPHA178307

MedGen ⁴¹ C0406811

SNOMED-CT via HPO ⁶⁸ 263681008 26996000 396228006 more

UMLS ⁷¹ C0406811

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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 breast, skin and tonsil, and related phenotypes are hyperkeratosis and Increased 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...

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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 79)

#	Related Disease	Score	Top Affiliating Genes
1	dowling-degos disease	30.4	POGLUT1 POFUT1 KRT5 KRT4 KRT14 DKC1
2	dyschromatosis universalis hereditaria	29.4	KRT5 KRT4 DKC1 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	benign breast adenomyoepithelioma	10.1	KRT5 KRT14
20	breast adenomyoepithelioma	10.1	KRT5 KRT14
21	pregnancy adenoma	10.1	KRT5 KRT14
22	cloacogenic carcinoma	10.1	KRT5 KRT4
23	esophageal basaloid squamous cell carcinoma	10.1	KRT5 KRT14
24	ceruminous adenocarcinoma	10.1	KRT5 KRT14
25	breast myoepithelial neoplasm	10.1	KRT5 KRT14
26	breast metaplastic carcinoma	10.1	KRT5 KRT14
27	epidermolysis bullosa simplex, autosomal recessive 1	10.1	KRT5 KRT14
28	odontoma	10.1	KRT5 KRT14
29	breast myoepithelial carcinoma	10.1	KRT5 KRT14
30	lipid-rich carcinoma	10.1	KRT5 KRT14
31	large cell acanthoma	10.1	KRT5 KRT14
32	eccrine sweat gland neoplasm	10.1	KRT5 KRT14
33	sweat gland neoplasm	10.1	KRT5 KRT14
34	epidermolysis bullosa simplex with mottled pigmentation	10.1	KRT5 KRT14
35	micronodular basal cell carcinoma	10.1	KRT5 KRT14
36	benign peritoneal mesothelioma	10.1	KRT5 KRT14
37	aortic aneurysm, familial abdominal, 1	10.1
38	ovarian cancer	10.1
39	rheumatoid arthritis	10.1
40	cervical cancer	10.1
41	mammographic density	10.1
42	human immunodeficiency virus type 1	10.1
43	angiosarcoma	10.1
44	euthyroid sick syndrome	10.1
45	serous cystadenocarcinoma	10.1
46	aortic aneurysm	10.1
47	sporadic breast cancer	10.1
48	47,xyy	10.1
49	cytokine deficiency	10.1
50	epidermolysis bullosa simplex, generalized	10.1	KRT5 KRT14

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

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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 (show all 17)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.62	CWC15 KRT4 POFUT1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.62	KRT4
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.62	KRT4
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.62	CWC15
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.62	KRT4
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.62	CWC15 POFUT1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.62	KRT4
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.62	POFUT1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.62	KRT4
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.62	POFUT1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	9.62	CWC15
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.62	CWC15
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.62	CWC15
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.62	KRT4
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.62	KRT4
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.62	POFUT1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.62	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

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Drugs & Therapeutics for Reticulate Acropigmentation of Kitamura

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

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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

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Anatomical Context for Reticulate Acropigmentation of Kitamura

MalaCards organs/tissues related to Reticulate Acropigmentation of Kitamura:

⁴⁰

Breast, Skin, Tonsil

Sources

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. ⁶¹ ⁵⁶ ⁶	Kono M...Akiyama M	23666529	2013
2	Reticulate acropigmentation of Kitamura. ⁶¹ ⁵⁶	Griffiths WA	823955	1976
3	The spectrum of reticulate pigment disorders of the skin revisited. ⁵⁶	Muller CS...Vogt T	23018017	2012
4	Reticulate pigmentary disorders--a review. ⁵⁶	Griffiths WA	6386246	1984
5	[A special form of acropigmentation: acropigmentation reticularis]. ⁵⁶	KITAMURA K...HIROKAWA K	13068777	1953
6	Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10. ⁶¹	Pan Y...Lin Z	30488468	2019
7	Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. ⁶¹	Kono M...Akiyama M	30692041	2019
8	Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. ⁶¹	Ralser DJ...Betz RC	29192958	2017
9	Updated review of genetic reticulate pigmentary disorders. ⁶¹	Zhang J...Yao Z	28407215	2017
10	Reticulate Acropigmentation of Kitamura and Nevus of Ito. ⁶¹	Garcia-Arpa M...Ramos-Rodriguez C	28388985	2017
11	Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders. ⁶¹	Alshaikh H...Aldukhi S	29201043	2017
12	Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report. ⁶¹	Tsutsumi M...Nakai N	26892935	2016
13	Coexistence of Reticulate Acropigmentation of Kitamura and Dowling-Degos Disease. ⁶¹	Take N...Furue M	29210541	2016
14	Behavior of melanocytes and keratinocytes in reticulate acropigmentation of Kitamura. ⁶¹	Okamura K...Suzuki T	26708207	2016
15	Dowling-Degos disease with reticulate acropigmentation of Kitamura: Extended spectrum of a single entity. ⁶¹	Rathoriya SG...Asati D	26955585	2016
16	Dowling-Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura. ⁶¹	Kono M...Akiyama M	25639155	2015
17	Reticulate acropigmentation of Kitamura: A familial case with eyelid involvement. ⁶¹	Sinha P...Chatterjee M	26265847	2015
18	Acropigmentation of Kitamura with immigration delay disease: A rare entity. ⁶¹	Kumar S...Bhoyar PA	26009721	2015
19	Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. ⁶¹	Buket Basmanav F...Betz RC	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. ⁶¹	Lee JH...Lee JH	25473245	2014
21	A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. ⁶¹	Vasudevan B...Badad A	24891663	2014
22	Characteristic findings of handprint and dermoscopy in reticulate acropigmentation of Kitamura. ⁶¹	Koguchi H...Shimizu H	23746125	2014
23	Reticulate acropigmentation of Kitamura. ⁶¹	Das A...Ghosh A	24222296	2013
24	Presentation of reticulate acropigmentation of kitamura and dowling-degos disease overlap. ⁶¹	Tang JC...Berman B	22808308	2012
25	Coexistence of reticulate acropigmentation of Kitamura and Dowling-Degos disease. ⁶¹	Cabral AR...Reis JP	25386285	2011
26	Coexistent Dowling-Degos disease and reticulate acropigmentation of kitamura with progressive seborrheic keratosis. ⁶¹	Shen Z...Zhong B	21416772	2011
27	Dowling-Degos disease. ⁶¹	Georgescu EF...Georgescu I	20191141	2010
28	Reticulate acropigmentation of Kitamura: report of a familial case. ⁶¹	Kocaturk E...Sarigul S	19061567	2008
29	Reticulate acropigmentation of Kitamura-Dowling Degos disease overlap: a case report. ⁶¹	Al Hawsawi K...Al Aboud D	12207773	2002
30	Reticulate acropigmentation of Kitamura: an unusual presentation. ⁶¹	Mendiratta V...Sarkar R	11138548	2000
31	Reticulate acropigmentation of Kitamura: first case reports from Nepal. ⁶¹	Joshi A...Sah SP	11138543	2000
32	A case of Dowling-Degos disease suggesting an evolutional sequence. ⁶¹	Lee SJ...Bae HI	11052235	2000
33	Pigmentation and pits at uncommon sites in a case with reticulate acropigmentation of Kitamura. ⁶¹	Sharma R...Chandra M	10681618	2000
34	Sporadic reticulate acropigmentation of Kitamura on pale skin. ⁶¹	Albes B...Viraben R	10188160	1999
35	Is the heredity of reticulate acro pigmentation of Kitamura always autosomal dominant? ⁶¹	Singal A...Singh N	9519613	1998
36	Overlap of reticulate acropigmentation of Kitamura, acropigmentation of Dohi and Dowling-Degos disease in four generations. ⁶¹	Thami GP...Singh IP	9621148	1998
37	Familial reticulate acropigmentation of Dohi. ⁶¹	Danese P...Bertazzoni MG	9366859	1997
38	Reticulate hyperpigmentation. ⁶¹	Schnur RE...Heymann WR	9125768	1997
39	Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. ⁶¹	Lestringant GG...Galadari IH	9529553	1997
40	Bony anomalies in a patient with reticulate acropigmentation of Kitamura. ⁶¹	el-Hoshy K...Hashimoto K	8973039	1996
41	Spectrum of reticulate flexural and acral pigmentary disorders in northern India. ⁶¹	Dhar S...Das A	7962960	1994
42	Reticulate acropigmentation of Kitamura: pigment specks and pits in unusual locations. ⁶¹	Lestringant GG...Qayed KI	8043410	1994
43	Treatment of reticulate acropigmentation of Kitamura with azelaic acid. ⁶¹	Gatti S...Nini G	8408814	1993
44	Reticulate acropigmentation of Kitamura: two case reports. ⁶¹	Erel A...Edali N	8225713	1993
45	Treatment of reticulate acropigmentation of Kitamura with azelaic acid. An immunohistochemical and electron microscopic study. ⁶¹	Kameyama K...Hearing VJ	1613143	1992
46	Reticulate acropigmentation of Kitamura: a case report. ⁶¹	Erel A...Ozarmagan G	1607491	1992
47	Reticulate acropigmentation of Kitamura with localized alopecia. ⁶¹	Wallis MS...Mallory SB	1880240	1991
48	Reticulate acropigmentation of Kitamura. ⁶¹	Kanwar AJ...Rajagopalan M	2335418	1990
49	Reticulate acropigmentation of Kitamura. ⁶¹	Sharma R...Kaur S	2591095	1989
50	Behavior of melanocytes in reticulate acropigmentation of Kitamura. ⁶¹	Mizoguchi M...Kukita A	3994414	1985

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Genes for Reticulate Acropigmentation of Kitamura

Genes related to Reticulate Acropigmentation of Kitamura (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1585.85	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	23666529
2	POFUT1	Protein O-Fucosyltransferase 1	Protein Coding	14.97	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	MYCBP2	MYC Binding Protein 2	Protein Coding	7.8	DISEASES inferred ¹⁵
4	LRPAP1	LDL Receptor Related Protein Associated Protein 1	Protein Coding	7.28	DISEASES inferred ¹⁵
5	KRT5	Keratin 5	Protein Coding	6.3	DISEASES inferred ¹⁵
6	ADAR	Adenosine Deaminase RNA Specific	Protein Coding	6.1	DISEASES inferred ¹⁵
7	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	6.03	DISEASES inferred ¹⁵
8	KRT4	Keratin 4	Protein Coding	6.02	DISEASES inferred ¹⁵
9	CWC15	CWC15 Spliceosome Associated Protein Homolog	Protein Coding	5.81	DISEASES inferred ¹⁵
10	POGLUT1	Protein O-Glucosyltransferase 1	Protein Coding	5.75	DISEASES inferred ¹⁵
11	KRT14	Keratin 14	Protein Coding	5.73	DISEASES inferred ¹⁵

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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

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Expression for Reticulate Acropigmentation of Kitamura

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

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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	Keratinization ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	11.79	KRT5 KRT4 KRT14
2	Cytoskeleton remodeling Neurofilaments ²² Show member pathways Cytoskeleton remodeling Keratin filaments ²²	10.83	KRT5 KRT4 KRT14
3	Notch Signaling Pathway (sino) ⁶⁶	10.5	POFUT1 ADAM10

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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

Sources for Reticulate Acropigmentation of Kitamura

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Reticulate Acropigmentation of Kitamura (RAK)

Aliases & Classifications for Reticulate Acropigmentation of Kitamura

MalaCards integrated aliases for Reticulate Acropigmentation of Kitamura:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Reticulate Acropigmentation of Kitamura

Related Diseases for Reticulate Acropigmentation of Kitamura

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

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

Symptoms & Phenotypes for Reticulate Acropigmentation of Kitamura

Human phenotypes related to Reticulate Acropigmentation of Kitamura:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Reticulate Acropigmentation of Kitamura:

Drugs & Therapeutics for Reticulate Acropigmentation of Kitamura

Genetic Tests for Reticulate Acropigmentation of Kitamura

Genetic tests related to Reticulate Acropigmentation of Kitamura:

Anatomical Context for Reticulate Acropigmentation of Kitamura

MalaCards organs/tissues related to Reticulate Acropigmentation of Kitamura:

Publications for Reticulate Acropigmentation of Kitamura

Articles related to Reticulate Acropigmentation of Kitamura:

Genes for Reticulate Acropigmentation of Kitamura

Genes related to Reticulate Acropigmentation of Kitamura (1 elite genes):

Variations for Reticulate Acropigmentation of Kitamura

ClinVar genetic disease variations for Reticulate Acropigmentation of Kitamura:

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

Expression for Reticulate Acropigmentation of Kitamura

Pathways for Reticulate Acropigmentation of Kitamura

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

GO Terms for Reticulate Acropigmentation of Kitamura

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

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

Sources for Reticulate Acropigmentation of Kitamura