PedAM

Pediatric Disease Annotations & Medicines


	idiopathic juvenile osteoporosis

Disease ID	682
Disease	idiopathic juvenile osteoporosis
Definition	An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. [url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193] - NORD Reference: NORD
Synonym	feline osteogenesis imperfecta feline osteogenesis imperfecta (disorder) ijo juvenile osteoporosis osteoporosis, juvenile
Orphanet	ORPHANET:85193
OMIM	OMIM:259750
DOID	DOID:12559
UMLS	C0264080
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) LRP5 \| 4041 \| ORPHANET;GHR DKK1 \| 22943 \| ORPHANET WNT1 \| 7471 \| ORPHANET WNT3A \| 89780 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:18) 64132 \| XYLT2 \| DISEASES 1277 \| COL1A1 \| DISEASES 8600 \| TNFSF11 \| DISEASES 4040 \| LRP6 \| DISEASES 1513 \| CTSK \| DISEASES 5741 \| PTH \| DISEASES 25836 \| NIPBL \| DISEASES 4041 \| LRP5 \| DISEASES 1278 \| COL1A2 \| DISEASES 50964 \| SOST \| DISEASES 796 \| CALCA \| DISEASES 3043 \| HBB \| DISEASES 5358 \| PLS3 \| DISEASES 55811 \| ADCY10 \| DISEASES 632 \| BGLAP \| DISEASES 860 \| RUNX2 \| DISEASES 6152 \| RPL24 \| DISEASES 8322 \| FZD4 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) WNT3A \| 1q42.13 DKK1 \| 10q21.1 LRP5 \| 11q13.2 WNT1 \| 12q13.12

Disease ID	682
Disease	idiopathic juvenile osteoporosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0002757 \| Recurrent fractures HP:0002808 \| Kyphosis HP:0000939 \| Osteoporosis HP:0002953 \| Vertebral compression fractures HP:0002653 \| Bone pain HP:0001288 \| Gait disturbance HP:0012052 \| Low serum calcitriol
Text Mined Phenotype	(Waiting for update.)

Disease ID	682
Disease	idiopathic juvenile osteoporosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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:0002757	Recurrent fractures	MP:0004675	rib fractures;HP:0004349	Reduced bone mineral density

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001288	Gait disturbance	MP:0010465	aberrant origin of the right subclavian artery;HP:0000007	Autosomal recessive inheritance

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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