PedAM

Pediatric Disease Annotations & Medicines


	fibrous dysplasia

Disease ID	792
Disease	fibrous dysplasia
Definition	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.
Synonym	dysplasia fibrous dysplasias fibrous fibrous dyplasia fibrous dyplasia (disorder) fibrous dysplasia (disorder) jaffe-lichtenstein syndrome
DOID	DOID:0080031
UMLS	C0259779
SNOMED-CT	SNOMEDCT_US_2016_09_01:254145001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:36) C0242292 \| albright syndrome \| 8 C0242292 \| mccune-albright syndrome \| 7 C0242292 \| mccune albright syndrome \| 3 C0029401 \| paget's disease \| 2 C0036439 \| scoliosis \| 2 C0034013 \| sexual precocity \| 1 C0036454 \| visual field defect \| 1 C0016045 \| fibroma \| 1 C0022578 \| keratoconus \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0029463 \| osteosarcoma \| 1 C0018552 \| hamartomas \| 1 C0008924 \| cleft lip \| 1 C1261473 \| sarcoma \| 1 C0029443 \| osteomyelitis \| 1 C0442874 \| neuropathy \| 1 C0020502 \| hyperparathyroidism \| 1 C0008479 \| chondrosarcoma \| 1 C0002448 \| adamantinoma \| 1 C0016045 \| fibromas \| 1 C0029423 \| osteochondroma \| 1 C0346302 \| growth hormone-secreting pituitary adenoma \| 1 C0036454 \| visual field defects \| 1 C0001206 \| acromegaly \| 1 C0008029 \| cherubism \| 1 C0034735 \| raynaud's phenomenon \| 1 C0029132 \| optic neuropathy \| 1 C0004779 \| gorlin-goltz syndrome \| 1 C0029401 \| paget's disease of bone \| 1 C0005940 \| bone disease \| 1 C0020550 \| hyperthyroidism \| 1 C0032000 \| pituitary adenoma \| 1 C0017547 \| gigantism \| 1 C0016395 \| goltz syndrome \| 1 C0029882 \| otitis media \| 1 C0032000 \| pituitary adenomas \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8074 \| FGF23 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 2767 \| GNA11 \| DISEASES 128674 \| PROKR2 \| DISEASES 54 \| ACP5 \| DISEASES 10423 \| CDIPT \| DISEASES 1277 \| COL1A1 \| DISEASES 3381 \| IBSP \| DISEASES 8050 \| PDHX \| DISEASES 6404 \| SELPLG \| DISEASES 6678 \| SPARC \| DISEASES 5210 \| PFKFB4 \| DISEASES 2691 \| GHRH \| DISEASES 8074 \| FGF23 \| DISEASES 4488 \| MSX2 \| DISEASES 8600 \| TNFSF11 \| DISEASES 4974 \| OMG \| DISEASES 9098 \| USP6 \| DISEASES 25796 \| PGLS \| DISEASES 4142 \| MAS1 \| DISEASES 2012 \| EMP1 \| DISEASES 2346 \| FOLH1 \| DISEASES 1019 \| CDK4 \| DISEASES 23314 \| SATB2 \| DISEASES 57045 \| TWSG1 \| DISEASES 5613 \| PRKX \| DISEASES 2769 \| GNA15 \| DISEASES 90 \| ACVR1 \| DISEASES 3299 \| HSF4 \| DISEASES 9759 \| HDAC4 \| DISEASES 5576 \| PRKAR2A \| DISEASES 5577 \| PRKAR2B \| DISEASES 5045 \| FURIN \| DISEASES 1009 \| CDH11 \| DISEASES 10637 \| LEFTY1 \| DISEASES 2796 \| GNRH1 \| DISEASES 740 \| MRPL49 \| DISEASES 5741 \| PTH \| DISEASES 25836 \| NIPBL \| DISEASES 55079 \| FEZF2 \| DISEASES 56172 \| ANKH \| DISEASES 6750 \| SST \| DISEASES 4091 \| SMAD6 \| DISEASES 6271 \| S100A1 \| DISEASES 51072 \| MEMO1 \| DISEASES 60675 \| PROK2 \| DISEASES 3549 \| IHH \| DISEASES 84315 \| MON1A \| DISEASES 6469 \| SHH \| DISEASES 4982 \| TNFRSF11B \| DISEASES 23588 \| KLHDC2 \| DISEASES 50964 \| SOST \| DISEASES 5617 \| PRL \| DISEASES 337876 \| CHSY3 \| DISEASES 3479 \| IGF1 \| DISEASES 121340 \| SP7 \| DISEASES 7200 \| TRH \| DISEASES 5308 \| PITX2 \| DISEASES 2353 \| FOS \| DISEASES 10855 \| HPSE \| DISEASES 30008 \| EFEMP2 \| DISEASES 2688 \| GH1 \| DISEASES 203859 \| ANO5 \| DISEASES 6569 \| SLC34A1 \| DISEASES 2253 \| FGF8 \| DISEASES 5745 \| PTH1R \| DISEASES 9735 \| KNTC1 \| DISEASES 64764 \| CREB3L2 \| DISEASES 796 \| CALCA \| DISEASES 342184 \| FMN1 \| DISEASES 23583 \| SMUG1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 93034 \| NT5C1B \| DISEASES 1825 \| DSC3 \| DISEASES 3360 \| HTR4 \| DISEASES 56955 \| MEPE \| DISEASES 800 \| CALD1 \| DISEASES 7044 \| LEFTY2 \| DISEASES 79577 \| CDC73 \| DISEASES 632 \| BGLAP \| DISEASES 257 \| ALX3 \| DISEASES 2778 \| GNAS \| DISEASES 3725 \| JUN \| DISEASES 860 \| RUNX2 \| DISEASES 367 \| AR \| DISEASES 650 \| BMP2 \| DISEASES 5251 \| PHEX \| DISEASES 51334 \| PRR16 \| DISEASES 1645 \| AKR1C1 \| DISEASES 192668 \| CYS1 \| DISEASES 10457 \| GPNMB \| DISEASES 4487 \| MSX1 \| DISEASES 9467 \| SH3BP5 \| DISEASES 8878 \| SQSTM1 \| DISEASES 2591 \| GALNT3 \| DISEASES 4287 \| ATXN3 \| DISEASES 3161 \| HMMR \| DISEASES 6696 \| SPP1 \| DISEASES 23066 \| CAND2 \| DISEASES 6916 \| TBXAS1 \| DISEASES 10551 \| AGR2 \| DISEASES 2260 \| FGFR1 \| DISEASES 6424 \| SFRP4 \| DISEASES 389549 \| FEZF1 \| DISEASES 4193 \| MDM2 \| DISEASES 23089 \| PEG10 \| DISEASES 6452 \| SH3BP2 \| DISEASES 8437 \| RASAL1 \| DISEASES 8792 \| TNFRSF11A \| DISEASES 100885779 \| LINC-ROR \| DISEASES
Locus	(Waiting for update.)

Disease ID	792
Disease	fibrous dysplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0012062 \| Bone cysts \| 7 HP:0012063 \| Aneurysmal bone cyst \| 7 HP:0012531 \| Pain \| 4 HP:0007807 \| Optic nerve compression \| 2 HP:0002664 \| Neoplasia \| 2 HP:0002650 \| Scoliosis \| 2 HP:0002893 \| Pituitary adenoma \| 1 HP:0100246 \| Osteoma \| 1 HP:0000563 \| Conical cornea \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0000389 \| Chronic otitis media \| 1 HP:0030880 \| Raynaud phenomenon \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0100333 \| Unilateral cheiloschisis \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0000388 \| Otitis media \| 1 HP:0002653 \| Bone pain \| 1 HP:0002754 \| Bone infection \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0002315 \| Headaches \| 1 HP:0000572 \| Visual loss \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0100242 \| Sarcoma \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0010614 \| Fibroma \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0030431 \| Osteochondromas \| 1 HP:0002757 \| Multiple fractures \| 1

Disease ID	792
Disease	fibrous dysplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:28) C2697383 \| osteosarcoma C2632116 \| stenosis C2598155 \| pain C1963180 \| neck pain C1608408 \| malignant transformation C1414542 \| marfan syndrome C1367554 \| adamantinoma C1334260 \| intramuscular myxoma C1261473 \| sarcoma C0752149 \| intractable headache C0700208 \| scoliosis C0456909 \| vision loss C0271344 \| optic nerve compression C0221391 \| melanosis C0152244 \| aneurysmal bone cyst C0078981 \| arachnoid cyst C0042170 \| harada's disease C0029463 \| osteosarcomas C0029442 \| osteomalacia C0029441 \| osteoid osteoma C0027149 \| myxomas C0027149 \| myxoma C0026683 \| mucocele C0020502 \| hyperparathyroidism C0018923 \| angiosarcoma C0015300 \| proptosis C0008479 \| chondrosarcoma C0008029 \| cherubism
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C1334260 \| intramuscular myxoma \| 7 C1608408 \| malignant transformation \| 7 C0152244 \| aneurysmal bone cyst \| 7 C0027149 \| myxomas \| 6 C0027149 \| myxoma \| 5 C0030193 \| pain \| 4 C0271344 \| optic nerve compression \| 2 C0036439 \| scoliosis \| 2 C0026683 \| mucocele \| 2 C1261473 \| sarcoma \| 1 C0029463 \| osteosarcoma \| 1 C0008479 \| chondrosarcoma \| 1 C0002448 \| adamantinoma \| 1 C0008029 \| cherubism \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913495	22450860	2778	GNAS	umls:C0259779	BeFree	We confirmed the results in FD lesion-derived BMSCs and observed that the impaired osteogenesis potential of BMSCs infected with lentivirus GNAS (R201H) was recovered in vitro through modulation of the CREB-Smad6-Runx2 axis.	0.00868614	2012	GNAS	20	58909366	G	A,T
rs121913495	25118809	2778	GNAS	umls:C0259779	BeFree	The lesions were tested for the R201H mutation in the GNAS gene, which is present in fibrous dysplasia.	0.00868614	2014	GNAS	20	58909366	G	A,T

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:0)
(Waiting for update.)

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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