Cafe-au-lait Spots disease: drugs, articles, genes, clinical trials

Summaries for Cafe-au-lait Spots

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⁴⁴Wikipedia, ²²MalaCards
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Wikipedia: Café au lait spots or Café au lait macules are pigmented birthmarks. The name café au lait is French...⁴⁴ more...

MalaCards: Cafe-au-lait Spots, also known as exanthema, is related to oligodendroglioma and neurofibromatosis. An important gene associated with Cafe-au-lait Spots is MSH6 (mutS homolog 6 (E. coli)), and among its related pathways are Pathways in cancer and Busulfan Pathway, Pharmacodynamics. The compounds mhs-2 and 6 thioguanine have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Aliases & Descriptions for Cafe-au-lait Spots

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⁴³UMLS, ⁷diseasecard, ³²Novoseek
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cafe-au-lait spots ⁷ ³²

exanthema ⁴³

Related Diseases for Cafe-au-lait Spots

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¹³GeneCards, ¹⁴GeneDecks
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Diseases related to cafe-au-lait spots by text searches and GeneDecks gene sharing:

(show top 50) (show all 138)

id	Related Disease	Score	Top Affiliating Genes
1	oligodendroglioma	30.9	MSH2, PMS2, MLH1, MSH6
2	neurofibromatosis	28.8	NF1, PMS2, PTPN11, MLH1, MSH6, MSH2
3	neurofibromatosis-noonan syndrome	13.2	NF1, PTPN11
4	pulmonic stenosis	13.1	NF1, PTPN11
5	cherubism	13.0	NF1, PTPN11
6	leopard syndrome	13.0	NF1, PTPN11
7	sebaceous gland neoplasm	12.8	MSH6, MLH1
8	attenuated familial adenomatous polyposis	12.7	APC, MSH6, MSH2
9	sebaceous adenocarcinoma	12.7	MSH2, MLH1
10	uterine adnexa cancer	12.7	MSH2, MLH1
11	chronic myelomonocytic leukemia	12.7	PTPN11, NF1
12	germinoma	12.6	KITLG, APC
13	atypical hemolytic-uremic syndrome	12.6	MSH2, MLH1
14	penis non-invasive verrucous carcinoma	12.6	MLH1, MSH2
15	neurofibroma	12.6	NF1, MSH6, KITLG
16	malignant fibrous histiocytoma	12.6	KITLG, MSH2, MSH6
17	hyperaldosteronism	12.5	APC, PMS2
18	fibrous histiocytoma	12.5	MSH2, KITLG, MSH6
19	histiocytoma	12.5	MSH2, KITLG, MSH6
20	myelodysplastic syndrome	12.5	NF1, KITLG, PTPN11
21	small intestine carcinoma	12.4	MSH6, MLH1, MSH2
22	myeloproliferative disorder	12.4	PTPN11, NF1, KITLG
23	keratoacanthoma	12.4	MSH6, MSH2, MLH1
24	familial prostate cancer	12.4	MSH2, MLH1, MSH6
25	li-fraumeni syndrome	12.4	NF1, MLH1, MSH2
26	cerebral primitive neuroectodermal tumor	12.4	KITLG, APC, MSH2
27	chronic myeloid leukemia	12.4	PTPN11, KITLG, NF1
28	werner syndrome	12.4	MSH6, MSH2, MLH1
29	juvenile myelomonocytic leukemia	12.3	PTPN11, NF1
30	brain cancer	12.3	MSH2, MSH6, NF1, APC
31	skin melanoma	12.3	PMS2, MLH1
32	cutaneous malignant melanoma	12.3	MSH2, MLH1, NF1
33	acute lymphoblastic leukemia	12.3	MSH2, KITLG, PTPN11
34	sporadic breast cancer	12.3	MLH1, MSH2, MSH6
35	lynch syndrome	12.3	MLH1, MSH2, APC
36	thyroid medullary carcinoma	12.2	MSH2, MLH1
37	alveolar soft part sarcoma	12.2	MLH1, MSH2, APC
38	malignant mesothelioma	12.2	APC, KITLG, MSH2
39	colorectal cancer	12.2	MLH1, MSH2, APC
40	pandas	12.2	MLH1, APC, MSH2
41	mayer-rokitansky-kuster-hauser syndrome	12.2	MLH1, NF1, APC
42	gallbladder carcinoma	12.2	MLH1, APC, MSH2
43	carney complex	12.2	KITLG, MSH2, MLH1
44	malignant glioma	12.1	PTPN11, NF1, PMS2, MSH6
45	testicular germ cell tumor	12.1	MSH2, MLH1, APC
46	synovial sarcoma	12.1	MLH1, APC, MSH2
47	barrett's esophagus	12.1	MLH1, APC, MSH2
48	skin benign neoplasm	12.1	MLH1, NF1, MSH6, MSH2
49	neuroectodermal tumors	12.1	KITLG, MSH2, APC, NF1
50	ulcerative colitis	12.0	APC, MLH1, MSH2

Graphical network of the top 20 diseases related to cafe-au-lait spots:

Graphical network of diseases related to cafe-au-lait spots

Clinical Features for Cafe-au-lait Spots

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Drugs & Therapeutics for Cafe-au-lait Spots

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⁴CenterWatch, ²⁹NIH Clinical Center, ⁵ClinicalTrials, ⁴³UMLS, ²⁸NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cafe-au-lait Spots

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Anatomical Context for Cafe-au-lait Spots

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Phenotypes for genes affiliated with Cafe-au-lait Spots

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²⁵MGI
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MGI Mouse Phenotypes related to cafe-au-lait spots:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.5	NF1, PTPN11, APC, KITLG
2	hearing/vestibular/ear phenotype	MP:0005377	8.3	NF1, PTPN11, APC, KITLG
3	limbs/digits/tail phenotype	MP:0005371	8.0	NF1, PTPN11, APC, KITLG
4	reproductive system phenotype	MP:0005389	7.6	KITLG, MLH1, APC, PTPN11, PMS2
5	hematopoietic system phenotype	MP:0005397	7.4	PMS2, NF1, PTPN11, APC, MSH2, KITLG
6	endocrine/exocrine gland phenotype	MP:0005379	7.4	PMS2, NF1, PTPN11, APC, MLH1, KITLG
7	digestive/alimentary phenotype	MP:0005381	7.3	PMS2, PTPN11, APC, MLH1, MSH2, KITLG
8	immune system phenotype	MP:0005387	7.3	PMS2, NF1, PTPN11, APC, MSH2, KITLG
9	integument phenotype	MP:0010771	7.2	NF1, PTPN11, APC, MLH1, MSH6, MSH2
10	tumorigenesis	MP:0002006	6.7	KITLG, PMS2, NF1, PTPN11, APC, MLH1
11	cellular phenotype	MP:0005384	6.6	PMS2, NF1, PTPN11, APC, MLH1, MSH6
12	homeostasis/metabolism phenotype	MP:0005376	6.6	PMS2, NF1, PTPN11, APC, MLH1, MSH6
13	mortality/aging	MP:0010768	6.6	PMS2, NF1, PTPN11, APC, MLH1, MSH6

Publications for genes affiliated with Cafe-au-lait Spots

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³⁵PubMed
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Articles related to cafe-au-lait spots:

id	Title	Authors	Year	Affiliating Genes
1	Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes. (17914445)	De Schepper S.... Messiaen L.	2008	NF1
2	Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? (16479403)	De Schepper S.... Lambert J.	2006	KITLG
3	A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. (15340263)	Menko F.H.... Gille J.J.	2004	MSH2, MLH1, MSH6
4	A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. (11809679)	Whiteside D.... Andrew S.E.	2002	MSH2

Genes related to Cafe-au-lait Spots

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¹³GeneCards
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Genes related to cafe-au-lait spots according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MSH6	mutS homolog 6 (E. coli)	11.1	Publications
2	NF1	neurofibromin 1	11.1	Publications
3	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.1
4	MSH2	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	11.1	Publications
5	PMS2	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	11.1	Publications
6	MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	11.1	Publications
7	KITLG	KIT ligand	11.1	Publications
8	APC	adenomatous polyposis coli	11.1

Expression for genes affiliated with Cafe-au-lait Spots

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¹BioGPS
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Expression patterns in normal tissues for genes affiliated with Cafe-au-lait Spots

Pathways for genes affiliated with Cafe-au-lait Spots

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²⁰KEGG, ³⁴PharmGKB, ⁴¹Thomson Reuters, ¹⁰EMD Millipore, ³⁶QIAGEN, ³Cell Signaling Technology
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Pathways related to cafe-au-lait spots according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Pathways in cancer²⁰	9.8	MSH2, MSH6
2	Busulfan Pathway, Pharmacodynamics³⁴	9.4	MSH2, MLH1
3	Doxorubicin Pathway (Cancer Cell), Pharmacodynamics³⁴	9.3	MSH2, MLH1
4	DNA damage_Role of Brca1 and Brca2 in DNA repair⁴¹	9.1	MLH1, MSH6, MSH2
5	DNA damage Role of Brca1 and Brca2 in DNA repair¹⁰	9.1	MLH1, MSH6, MSH2
6	Mismatch Repair in Eukaryotes³⁶	8.8	MSH2, MSH6, MLH1, PMS2
7	Cell Cycle / Checkpoint Control³	8.8	MLH1, MSH6, MSH2
8	Mismatch repair²⁰	8.7	PMS2, MLH1, MSH6, MSH2
9	Colorectal cancer²⁰	8.7	APC, MLH1, MSH6, MSH2
10	Colorectal Cancer Metastasis³⁶	8.6	APC, MLH1, MSH6, MSH2

Compounds for genes affiliated with Cafe-au-lait Spots

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³²Novoseek , ⁴²Tocris Bioscience, ⁹DrugBank, ¹⁸HMDB, ³⁴PharmGKB
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Compounds related to cafe-au-lait spots according to GeneDecks:

(show all 30)

id	Compound	Score	Top Affiliating Genes
1	mhs-2³²	9.7	MLH1, PMS2
2	6 thioguanine³²	9.6	MSH2, MLH1
3	rapamycin³² ⁴²	10.6	KITLG, NF1
4	sodium bisulfite³²	9.6	MLH1, APC
5	temozolomide³² ⁹ ⁹	11.5	MLH1, MSH2
6	5-methylcytosine³² ¹⁸	10.5	APC, MLH1
7	n-methyl-n-nitrosourea³²	9.4	MLH1, MSH6, MSH2
8	sulindac³² ⁹ ⁹	11.3	MLH1, APC
9	mnng³²	9.2	MSH2, MLH1, APC
10	adenine³² ⁹ ¹⁸ ⁹	12.2	APC, MLH1, MSH2
11	mononucleotide³²	8.9	APC, MLH1, MSH6, MSH2
12	carboplatin³² ³⁴ ⁹ ⁹	11.9	MLH1, MSH2, KITLG
13	o6-methylguanine³²	8.9	MSH2, MSH6, MLH1, APC
14	bromodeoxyuridine³²	8.9	PTPN11, MLH1, KITLG
15	methionine³²	8.9	NF1, PTPN11, APC, MLH1
16	salbutamol³² ³⁴ ⁹ ¹⁸ ⁹	12.8	KITLG, APC
17	5-aza-2deoxycytidine³²	8.7	APC, MLH1, KITLG
18	5fluorouracil³²	8.7	KITLG, MSH2, MLH1
19	aspirin³² ³⁴ ¹⁸	10.7	KITLG, MLH1, APC
20	arginine³²	8.7	NF1, PTPN11, MLH1, MSH2
21	doxorubicin³² ³⁴ ⁹ ⁹	11.5	MLH1, MSH6, MSH2, KITLG
22	threonine³²	8.5	PTPN11, APC, MLH1, MSH6
23	crcs³²	8.4	MSH2, MSH6, MLH1, APC, PMS2
24	phosphatidylinositol³²	8.3	KITLG, APC, PTPN11, NF1
25	cisplatin³² ³⁴ ⁹ ⁹	11.2	PTPN11, MLH1, MSH6, MSH2, KITLG
26	alanine³²	8.1	NF1, PTPN11, MLH1, MSH2, KITLG
27	biotin³² ⁹ ¹⁸ ⁹	11.1	PMS2, MLH1, MSH6, MSH2, KITLG
28	serine³²	7.9	NF1, PTPN11, APC, MSH6, MSH2, KITLG
29	tyrosine³²	7.7	NF1, PTPN11, APC, MLH1, MSH6, KITLG
30	paraffin³²	7.2	PMS2, NF1, APC, MLH1, MSH6, MSH2

GO Terms for genes affiliated with Cafe-au-lait Spots

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¹²Gene Ontology
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Cellular components related to cafe-au-lait spots according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	MutSalpha complex	GO:032301	9.7	MSH2, MSH6

Biological processes related to cafe-au-lait spots according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	somatic recombination of immunoglobulin gene segments	GO:016447	9.8	MSH2, MSH6
2	positive regulation of helicase activity	GO:051096	9.8	MSH6, MSH2
3	maintenance of DNA repeat elements	GO:043570	9.7	MSH6, MSH2
4	negative regulation of DNA recombination	GO:045910	9.7	MSH2, MSH6
5	negative regulation of MAPK cascade	GO:043409	9.6	APC, NF1
6	isotype switching	GO:045190	9.6	MSH6, MSH2
7	determination of adult lifespan	GO:008340	9.4	MSH6, MSH2
8	mismatch repair	GO:006298	9.3	MSH2, MSH6, PMS2

Molecular functions related to cafe-au-lait spots according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	single thymine insertion binding	GO:032143	9.9	MSH2, MSH6
2	oxidized purine DNA binding	GO:032357	9.9	MSH6, MSH2
3	single guanine insertion binding	GO:032142	9.9	MSH6, MSH2
4	guanine/thymine mispair binding	GO:032137	9.8	MSH6, MSH2
5	four-way junction DNA binding	GO:000400	9.7	MSH6, MSH2
6	ADP binding	GO:043531	9.7	MSH2, MSH6
7	MutLalpha complex binding	GO:032405	9.6	MSH2, MSH6
8	MutSalpha complex binding	GO:032407	9.4	PMS2, MLH1
9	mismatched DNA binding	GO:030983	9.3	MSH2, MSH6, MLH1
10	single-stranded DNA binding	GO:003697	9.0	MSH2, MLH1, PMS2
11	protein binding	GO:005515	6.1	PMS2, NF1, PTPN11, APC, MLH1, MSH6