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	acanthosis nigricans

Disease ID	469
Disease	acanthosis nigricans
Definition	A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder.
Synonym	acanthosis nigrican acanthosis nigricans (disorder) acanthosis nigricans [disease/finding] an - acanthosis nigricans keratosis nigricans nigrican, acanthosis nigricans, acanthosis
OMIM	OMIM:100600
DOID	DOID:3138
ICD10	ICD10CM:L83
UMLS	C0000889
MeSH	D000052
SNOMED-CT	SNOMEDCT_US_2016_09_01:402599005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:42) C0010273 \| crouzon syndrome \| 10 C0011849 \| diabetes mellitus \| 5 C0011847 \| diabetes \| 5 C0028754 \| obesity \| 4 C0011860 \| type 2 diabetes \| 2 C0278701 \| gastric adenocarcinoma \| 2 C0020459 \| hyperinsulinemia \| 2 C0019158 \| hepatitis \| 2 C0019196 \| hepatitis c \| 1 C0028756 \| severe obesity \| 1 C0002726 \| amyloidosis \| 1 C0879615 \| stromal tumor \| 1 C0242379 \| lung cancer \| 1 C0476089 \| endometrial ca \| 1 C1261473 \| sarcoma \| 1 C0699885 \| carcinoma of the urinary bladder \| 1 C0028754 \| adiposity \| 1 C0007222 \| cardiovascular disease \| 1 C0334082 \| epidermal nevus \| 1 C0026948 \| mycosis fungoides \| 1 C0279680 \| transitional cell carcinoma of the urinary bladder \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0028756 \| morbid obesity \| 1 C0007138 \| transitional cell carcinoma \| 1 C1140680 \| ovarian ca \| 1 C0948265 \| metabolic syndrome \| 1 C0268397 \| cutaneous amyloidosis \| 1 C0409974 \| lupus erythematosus \| 1 C0410528 \| skeletal dysplasia \| 1 C0206081 \| hyperandrogenism \| 1 C0026946 \| mycosis \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C1140680 \| ovarian cancer \| 1 C0019196 \| hepatitis c infection \| 1 C0476089 \| endometrial carcinoma \| 1 C1153706 \| endometrial adenocarcinoma \| 1 C0007121 \| bronchogenic carcinoma \| 1 C0042373 \| vascular disease \| 1 C0268425 \| alstrom syndrome \| 1 C0021359 \| infertility \| 1 C0021655 \| insulin resistance syndrome \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:42) 9370 \| ADIPOQ \| 2.35 \| DISEASES 10555 \| AGPAT2 \| 5.003 \| DISEASES 208 \| AKT2 \| 1.22 \| DISEASES 64225 \| ATL2 \| 2.105 \| DISEASES 26580 \| BSCL2 \| 4.416 \| DISEASES 857 \| CAV1 \| 1.661 \| DISEASES 8881 \| CDC16 \| 1.966 \| DISEASES 387836 \| CLEC2A \| 1.018 \| DISEASES 22796 \| COG2 \| 1.308 \| DISEASES 1589 \| CYP21A2 \| 1.228 \| DISEASES 5169 \| ENPP3 \| 1.712 \| DISEASES 2117 \| ETV3 \| 1.153 \| DISEASES 2246 \| FGF1 \| 1.763 \| DISEASES 2260 \| FGFR1 \| 1.708 \| DISEASES 2263 \| FGFR2 \| 4.192 \| DISEASES 2261 \| FGFR3 \| 5.551 \| DISEASES 2316 \| FLNA \| 1.894 \| DISEASES 2641 \| GCG \| 2.314 \| DISEASES 9402 \| GRAP2 \| 1.128 \| DISEASES 3167 \| HMX2 \| 1.857 \| DISEASES 3476 \| IGBP1 \| 1.321 \| DISEASES 3486 \| IGFBP3 \| 1.886 \| DISEASES 3590 \| IL11RA \| 2.28 \| DISEASES 3652 \| IPP \| 1.166 \| DISEASES 8660 \| IRS2 \| 1.063 \| DISEASES 54900 \| LAX1 \| 1.692 \| DISEASES 4000 \| LMNA \| 4.267 \| DISEASES 84823 \| LMNB2 \| 1.81 \| DISEASES 115209 \| OMA1 \| 1.786 \| DISEASES 55010 \| PARPBP \| 1.964 \| DISEASES 9124 \| PDLIM1 \| 3.497 \| DISEASES 5333 \| PLCD1 \| 1.985 \| DISEASES 284119 \| PTRF \| 3.259 \| DISEASES 6256 \| RXRA \| 1.834 \| DISEASES 6462 \| SHBG \| 4.31 \| DISEASES 4184 \| SMCP \| 1.168 \| DISEASES 6772 \| STAT1 \| 1.121 \| DISEASES 9882 \| TBC1D4 \| 1.168 \| DISEASES 100038246 \| TLX1NB \| 3.233 \| DISEASES 10090 \| UST \| 1.541 \| DISEASES 157680 \| VPS13B \| 1.055 \| DISEASES 10269 \| ZMPSTE24 \| 3.205 \| DISEASES
Locus	(Waiting for update.)

Disease ID	469
Disease	acanthosis nigricans
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0000956 \| Keratosis nigricans
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0000855 \| Insulin resistance \| 12 HP:0004439 \| Crouzon syndrome \| 10 HP:0000819 \| Diabetes mellitus \| 6 HP:0001513 \| Obesity \| 6 HP:0000831 \| Insulin-resistant diabetes mellitus \| 2 HP:0000842 \| Elevated insulin level \| 2 HP:0012115 \| Liver inflammation \| 2 HP:0030731 \| Carcinoma \| 2 HP:0003764 \| Naevus \| 1 HP:0000789 \| Infertility \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0012114 \| Endometrial carcinoma \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0002664 \| Neoplasia \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0012743 \| Central obesity \| 1 HP:0100242 \| Sarcoma \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0001824 \| Weight loss \| 1 HP:0010816 \| Epidermal nevus \| 1 HP:0012309 \| Cutaneous amyloidosis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1

Disease ID	469
Disease	acanthosis nigricans
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2700520 \| crouzon syndrome C2697424 \| gastric cancer C1153706 \| endometrial adenocarcinoma C0870082 \| hyperkeratosis C0854110 \| insulin resistant diabetes C0743125 \| insulin resistant diabetes mellitus C0684249 \| lung carcinoma C0476089 \| endometrial carcinoma C0279651 \| adenocarcinoma of the gallbladder C0263313 \| pemphigus foliaceus C0221032 \| seip-lawrence syndrome C0149782 \| squamous cell carcinoma of the lung C0037285 \| skin manifestations C0037284 \| skin lesions C0026948 \| mycosis fungoides C0020459 \| hyperinsulinemia C0019202 \| hepatolenticular degeneration C0014130 \| endocrine diseases C0011860 \| type 2 diabetes C0010273 \| crouzon's syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0010273 \| crouzon syndrome \| 10 C0011860 \| type 2 diabetes \| 2 C0026948 \| mycosis fungoides \| 1 C0476089 \| endometrial carcinoma \| 1 C1153706 \| endometrial adenocarcinoma \| 1 C0020459 \| hyperinsulinemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913105	10053006	2261	FGFR3	umls:C0000889	BeFree	A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.	0.014426145	1999	FGFR3	4	1806163	A	C,T
rs28931615	11039354	2261	FGFR3	umls:C0000889	BeFree	Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations.	0.014426145	2000	FGFR3	4	1804426	C	A
rs28931615	8880573	2261	FGFR3	umls:C0000889	BeFree	A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.	0.014426145	1996	FGFR3	4	1804426	C	A
rs28931615	10541159	2261	FGFR3	umls:C0000889	BeFree	All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu).	0.014426145	1999	FGFR3	4	1804426	C	A
rs78311289	18000903	2261	FGFR3	umls:C0000889	BeFree	Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.	0.014426145	2007	FGFR3	4	1806162	A	C,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000956	Acanthosis nigricans	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state

Disease ID	469
Disease	acanthosis nigricans
Case	(Waiting for update.)

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