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	lichen amyloidosis

Disease ID	832
Disease	lichen amyloidosis
Definition	The presence of amyloid deposition in the superficial dermis. [HPO:probinson, pmid:19690585]
Synonym	ad type amyloidosis ad type amyloidosis (disorder) amyloid lichen amyloidosis cutaneous amyloidosis cutis amyloidosis lichen amyloidosis of dermis amyloidosis of skin amyloidosis of skin (disorder) amyloidosis, primary cutaneous cutaneous amyloidosis cutaneous amyloidosis (disorder) lichen amyloidosis (disorder) lichen amyloidosus primary cutaneous amyloidosis primary localised cutaneous amyloidosis primary localized cutaneous amyloidosis primary localized cutaneous amyloidosis (disorder) primary localized cutaneous amyloidosis (disorder) [ambiguous] skin amyloidosis
Orphanet	ORPHANET:49804 ORPHANET:137807
DOID	DOID:0050639
UMLS	C0268397
SNOMED-CT	SNOMEDCT_US_2016_09_01:281882003;SNOMEDCT_US_2016_09_01:282834007;SNOMEDCT_US_2016_09_01:201337008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0011615 \| atopic dermatitis \| 2 C0000889 \| acanthosis nigricans \| 1 C0014527 \| epidermolysis bullosa \| 1 C0007115 \| thyroid ca \| 1 C0021171 \| incontinentia pigmenti \| 1 C0079294 \| dystrophic epidermolysis bullosa \| 1 C0241910 \| autoimmune hepatitis \| 1 C0238462 \| medullary thyroid carcinoma \| 1 C0024299 \| lymphoma \| 1 C0026948 \| mycosis fungoides \| 1 C0279626 \| squamous cell carcinoma of the esophagus \| 1 C0008312 \| biliary cirrhosis \| 1 C0870082 \| hyperkeratosis \| 1 C0152018 \| carcinoma of the esophagus \| 1 C0036205 \| pulmonary sarcoidosis \| 1 C0026946 \| mycosis \| 1 C1527336 \| sjogren's syndrome \| 1 C0008312 \| primary biliary cirrhosis \| 1 C0007137 \| squamous cell carcinoma \| 1 C0549473 \| thyroid carcinoma \| 1 C0019158 \| hepatitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:112) 65057 \| ACD \| 1.229 \| DISEASES 55811 \| ADCY10 \| 1.159 \| DISEASES 1645 \| AKR1C1 \| 1.372 \| DISEASES 501 \| ALDH7A1 \| 1.466 \| DISEASES 247 \| ALOX15B \| 2.292 \| DISEASES 10189 \| ALYREF \| 1.394 \| DISEASES 307 \| ANXA4 \| 1.04 \| DISEASES 309 \| ANXA6 \| 1.129 \| DISEASES 310 \| ANXA7 \| 2.162 \| DISEASES 367 \| AR \| 1.436 \| DISEASES 487 \| ATP2A1 \| 3.217 \| DISEASES 488 \| ATP2A2 \| 1.809 \| DISEASES 489 \| ATP2A3 \| 3.055 \| DISEASES 8912 \| CACNA1H \| 1.169 \| DISEASES 800 \| CALD1 \| 3.51 \| DISEASES 801 \| CALM1 \| 5.753 \| DISEASES 846 \| CASR \| 1.765 \| DISEASES 1056 \| CEL \| 3.024 \| DISEASES 91851 \| CHRDL1 \| 1.837 \| DISEASES 1192 \| CLIC1 \| 1.391 \| DISEASES 1510 \| CTSE \| 1.13 \| DISEASES 57703 \| CWC22 \| 2.716 \| DISEASES 124454 \| EARS2 \| 1.198 \| DISEASES 55862 \| ECHDC1 \| 1.767 \| DISEASES 1906 \| EDN1 \| 1.97 \| DISEASES 60528 \| ELAC2 \| 1.358 \| DISEASES 2281 \| FKBP1B \| 1.106 \| DISEASES 221937 \| FOXK1 \| 1.081 \| DISEASES 25801 \| GCA \| 2.501 \| DISEASES 56287 \| GKN1 \| 1.642 \| DISEASES 2934 \| GSN \| 2.502 \| DISEASES 23560 \| GTPBP4 \| 3.941 \| DISEASES 3083 \| HGFAC \| 1.341 \| DISEASES 64344 \| HIF3A \| 1.233 \| DISEASES 3112 \| HLA-DOB \| 1.031 \| DISEASES 3284 \| HSD3B2 \| 1.041 \| DISEASES 3355 \| HTR1F \| 1.224 \| DISEASES 3363 \| HTR7 \| 3.288 \| DISEASES 64806 \| IL25 \| 1.373 \| DISEASES 386653 \| IL31 \| 2.679 \| DISEASES 133396 \| IL31RA \| 1.708 \| DISEASES 54617 \| INO80 \| 1.916 \| DISEASES 3709 \| ITPR2 \| 1.511 \| DISEASES 23210 \| JMJD6 \| 4.326 \| DISEASES 3738 \| KCNA3 \| 1.642 \| DISEASES 126364 \| LRRC25 \| 1.66 \| DISEASES 4128 \| MAOA \| 1.415 \| DISEASES 65108 \| MARCKSL1 \| 1.946 \| DISEASES 8972 \| MGAM \| 4.386 \| DISEASES 4514 \| MT-CO3 \| 1.552 \| DISEASES 4606 \| MYBPC2 \| 3.43 \| DISEASES 4607 \| MYBPC3 \| 3.273 \| DISEASES 4624 \| MYH6 \| 2.939 \| DISEASES 4625 \| MYH7 \| 1.332 \| DISEASES 4637 \| MYL6 \| 1.756 \| DISEASES 4638 \| MYLK \| 5.165 \| DISEASES 91807 \| MYLK3 \| 2.755 \| DISEASES 29895 \| MYLPF \| 1.852 \| DISEASES 4641 \| MYO1C \| 2.985 \| DISEASES 4674 \| NAP1L2 \| 2.087 \| DISEASES 4703 \| NEB \| 2.913 \| DISEASES 91624 \| NEXN \| 1.527 \| DISEASES 4810 \| NHS \| 1.933 \| DISEASES 50863 \| NTM \| 1.946 \| DISEASES 5091 \| PC \| 4.204 \| DISEASES 50652 \| PCA3 \| 4.3 \| DISEASES 103164619 \| PCAT2 \| 4.056 \| DISEASES 118425 \| PCAT4 \| 7.596 \| DISEASES 5160 \| PDHA1 \| 2.101 \| DISEASES 64065 \| PERP \| 1.118 \| DISEASES 57649 \| PHF12 \| 1.382 \| DISEASES 151056 \| PLB1 \| 2.133 \| DISEASES 10687 \| PNMA2 \| 2.91 \| DISEASES 11201 \| POLI \| 1.603 \| DISEASES 5501 \| PPP1CC \| 1.469 \| DISEASES 4660 \| PPP1R12B \| 2.422 \| DISEASES 5515 \| PPP2CA \| 1.08 \| DISEASES 56980 \| PRDM10 \| 3.019 \| DISEASES 5578 \| PRKCA \| 2.184 \| DISEASES 5587 \| PRKD1 \| 2.077 \| DISEASES 29968 \| PSAT1 \| 1.106 \| DISEASES 5745 \| PTH1R \| 2.35 \| DISEASES 5792 \| PTPRF \| 1.372 \| DISEASES 282996 \| RBM20 \| 2 \| DISEASES 222546 \| RFX6 \| 1.286 \| DISEASES 387 \| RHOA \| 2.501 \| DISEASES 6168 \| RPL37A \| 2.225 \| DISEASES 6261 \| RYR1 \| 2.882 \| DISEASES 6262 \| RYR2 \| 1.753 \| DISEASES 6263 \| RYR3 \| 2.475 \| DISEASES 51150 \| SDF4 \| 1.464 \| DISEASES 51100 \| SH3GLB1 \| 2.239 \| DISEASES 9576 \| SPAG6 \| 1.908 \| DISEASES 6692 \| SPINT1 \| 2.178 \| DISEASES 6863 \| TAC1 \| 1.335 \| DISEASES 4070 \| TACSTD2 \| 1.613 \| DISEASES 63892 \| THADA \| 1.416 \| DISEASES 10673 \| TNFSF13B \| 1.111 \| DISEASES 7135 \| TNNI1 \| 3.487 \| DISEASES 7137 \| TNNI3 \| 4.549 \| DISEASES 7138 \| TNNT1 \| 4.659 \| DISEASES 7139 \| TNNT2 \| 3.393 \| DISEASES 7148 \| TNXB \| 1.068 \| DISEASES 7169 \| TPM2 \| 2.766 \| DISEASES 1787 \| TRDMT1 \| 1.744 \| DISEASES 10345 \| TRDN \| 1.173 \| DISEASES 7273 \| TTN \| 4.676 \| DISEASES 7432 \| VIP \| 1.511 \| DISEASES 23038 \| WDTC1 \| 4.394 \| DISEASES 8565 \| YARS \| 2.487 \| DISEASES 80829 \| ZFP91 \| 2.152 \| DISEASES 79027 \| ZNF655 \| 2.516 \| DISEASES
Locus	(Waiting for update.)

Disease ID	832
Disease	lichen amyloidosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0011034 \| Amyloid disease HP:0000973 \| Dermatomegaly HP:0001291 \| Cranial nerve disease HP:0001149 \| Lattice corneal dystrophy HP:0000989 \| Pruritus HP:0200034 \| Papule HP:0000989 \| pruritis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0001047 \| Atopic dermatitis \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002613 \| Biliary cirrhosis \| 1 HP:0001257 \| Spasticity \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0002890 \| Thyroid carcinoma \| 1 HP:0002865 \| Medullary thyroid carcinoma \| 1 HP:0000956 \| Keratosis nigricans \| 1 HP:0002665 \| Lymphoma \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0000962 \| Hyperkeratosis \| 1

Disease ID	832
Disease	lichen amyloidosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0870082 \| hyperkeratosis \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs75076352	9111993	5979	RET	umls:C0268397	BeFree	A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.	0.001085767	1997	RET	10	43114500	T	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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001291	Abnormality of the cranial nerves	MP:0008156	decreased diameter of tibia	reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge

Mapped by homologous gene(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200034	Papule	MP:0013745	abnormal eyelid margin morphology	any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0001291	Abnormality of the cranial nerves	MP:0013906	absent embryonic telencephalon	absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
HP:0011034	Amyloidosis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000989	Pruritus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001149	Lattice corneal dystrophy	MP:0020087	increased susceptibility to non-insulin-dependent diabetes	increased likelihood to develop non-insulin-dependent diabetes
HP:0000973	Cutis laxa	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death

Disease ID	832
Disease	lichen amyloidosis
Case	(Waiting for update.)

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