PedAM

Pediatric Disease Annotations & Medicines


	coats disease

Disease ID	78
Disease	coats disease
Definition	A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels.
Synonym	coat disease coat syndrome coat's disease coat's syndrome coats syndrome coats' disease coats' disease (disorder) coats' disease [ambiguous] coats' syndrome coats's disease disease, coats exudative retinopathy exudative retinopathy (disorder) leber's miliary aneurysms miliary aneurysms of retina retinal telangiectases retinal telangiectasis retinal telangiectasis [disease/finding] telangiectases, retinal telangiectasis, retinal
Orphanet	ORPHANET:190
OMIM	OMIM:300216
DOID	DOID:7765
UMLS	C0154832
MeSH	D058456
SNOMED-CT	SNOMEDCT_US_2016_09_01:360455002;SNOMEDCT_US_2016_09_01:25506007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0035305 \| retinal detachment \| 2 C0039263 \| takayasu arteritis \| 1 C0029124 \| optic atrophy \| 1 C0015625 \| fanconi anemia \| 1 C0035304 \| retinal degeneration \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) NDP \| 4693 \| ORPHANET CRB1 \| 23418 \| CTD_human CTC1 \| 80169 \| CTD_human CTD \| 1283 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 23554 \| TSPAN12 \| DISEASES 3040 \| HBA2 \| DISEASES 341 \| APOC1 \| DISEASES 55213 \| RCBTB1 \| DISEASES 2324 \| FLT4 \| DISEASES 4854 \| NOTCH3 \| DISEASES 28960 \| DCPS \| DISEASES 2247 \| FGF2 \| DISEASES 2651 \| GCNT2 \| DISEASES 26277 \| TINF2 \| DISEASES 5921 \| RASA1 \| DISEASES 4041 \| LRP5 \| DISEASES 79797 \| ZNF408 \| DISEASES 80169 \| CTC1 \| DISEASES 55109 \| AGGF1 \| DISEASES 3039 \| HBA1 \| DISEASES 2303 \| FOXC2 \| DISEASES 161882 \| ZFPM1 \| DISEASES 4089 \| SMAD4 \| DISEASES 54345 \| SOX18 \| DISEASES 889 \| KRIT1 \| DISEASES 23418 \| CRB1 \| DISEASES 1736 \| DKC1 \| DISEASES 8517 \| IKBKG \| DISEASES 11146 \| GLMN \| DISEASES 7422 \| VEGFA \| DISEASES 4855 \| NOTCH4 \| DISEASES 4693 \| NDP \| DISEASES 5080 \| PAX6 \| DISEASES 6247 \| RS1 \| DISEASES 7010 \| TEK \| DISEASES 83605 \| CCM2 \| DISEASES 9946 \| CRYZL1 \| DISEASES 94 \| ACVRL1 \| DISEASES 11235 \| PDCD10 \| DISEASES 8831 \| SYNGAP1 \| DISEASES 1028 \| CDKN1C \| DISEASES 8322 \| FZD4 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) NDP \| Xp11.3

Disease ID	78
Disease	coats disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0001103 \| Abnormality of the macula HP:0000501 \| Glaucoma HP:0000593 \| Abnormality of the anterior chamber HP:0008046 \| Abnormality of the retinal vasculature HP:0000486 \| Strabismus HP:0000541 \| Retinal detachment HP:0008053 \| Aplasia/Hypoplasia of the iris HP:0000518 \| Cataract
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0000541 \| Detached retina \| 2 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0030496 \| Macular exudation \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1

Disease ID	78
Disease	coats disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1963229 \| retinal detachment C0694575 \| macular fibrosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0694575 \| macular fibrosis \| 2 C0035305 \| retinal detachment \| 2

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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:0008046	Abnormality of the retinal vasculature	MP:0008446	decreased retinal cone cell number;HP:0000593	Abnormality of the anterior chamber

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000501	Glaucoma	MP:0000010	abnormal abdominal fat pad morphology;HP:0000505	Visual impairment

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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