PedAM

Pediatric Disease Annotations & Medicines


	nail-patella syndrome

Disease ID	259
Disease	nail-patella syndrome
Definition	A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.
Synonym	disease, fong fong disease fong syndrome hereditary onycho-osteodysplasia hereditary osteo-onychodysplasia hereditary osteo-onychodysplasias nail patella syndrome nail-patella syndrome (disorder) nail-patella syndrome [disease/finding] nps nps1 onychoosteodysplasia osteo onychodysplasia, hereditary osteo-onychodysplasia, hereditary osteo-onychodysplasias, hereditary osterreicher syndrome pelvic horn syndrome syndrome, nail-patella syndrome, osterreicher syndrome, pelvic horn syndrome, turner-kieser turner kieser syndrome turner-kieser syndrome
Orphanet	ORPHANET:2614
OMIM	OMIM:161200 OMIM:609513
DOID	DOID:9467
UMLS	C0027341
MeSH	D009261
SNOMED-CT	SNOMEDCT_US_2016_09_01:22199006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NPS \| 594857 \| OMIM LMX1B \| 4010 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 4653 \| MYOC \| DISEASES 4627 \| MYH9 \| DISEASES 57167 \| SALL4 \| DISEASES 343637 \| RSPO4 \| DISEASES 7473 \| WNT3 \| DISEASES 6928 \| HNF1B \| DISEASES 3670 \| ISL1 \| DISEASES 9496 \| TBX4 \| DISEASES 445 \| ASS1 \| DISEASES 6927 \| HNF1A \| DISEASES 1545 \| CYP1B1 \| DISEASES 23314 \| SATB2 \| DISEASES 6929 \| TCF3 \| DISEASES 3931 \| LCAT \| DISEASES 4811 \| NID1 \| DISEASES 7474 \| WNT5A \| DISEASES 3371 \| TNC \| DISEASES 11081 \| KERA \| DISEASES 7476 \| WNT7A \| DISEASES 11197 \| WIF1 \| DISEASES 23522 \| KAT6B \| DISEASES 54361 \| WNT4 \| DISEASES 401827 \| MSLNL \| DISEASES 4041 \| LRP5 \| DISEASES 7248 \| TSC1 \| DISEASES 5308 \| PITX2 \| DISEASES 10421 \| CD2BP2 \| DISEASES 7369 \| UMOD \| DISEASES 9079 \| LDB2 \| DISEASES 137735 \| ABRA \| DISEASES 205 \| AK4 \| DISEASES 9241 \| NOG \| DISEASES 7490 \| WT1 \| DISEASES 1287 \| COL4A5 \| DISEASES 5727 \| PTCH1 \| DISEASES 2066 \| ERBB4 \| DISEASES 1861 \| TOR1A \| DISEASES 4010 \| LMX1B \| DISEASES 8323 \| FZD6 \| DISEASES 23607 \| CD2AP \| DISEASES 7827 \| NPHS2 \| DISEASES 10370 \| CITED2 \| DISEASES 1289 \| COL5A1 \| DISEASES 203 \| AK1 \| DISEASES 2516 \| NR5A1 \| DISEASES 2934 \| GSN \| DISEASES 3339 \| HSPG2 \| DISEASES 7507 \| XPA \| DISEASES 1282 \| COL4A1 \| DISEASES 2131 \| EXT1 \| DISEASES 375790 \| AGRN \| DISEASES 2296 \| FOXC1 \| DISEASES 50808 \| AK3 \| DISEASES 10123 \| ARL4C \| DISEASES 1621 \| DBH \| DISEASES 11346 \| SYNPO \| DISEASES 1285 \| COL4A3 \| DISEASES 1286 \| COL4A4 \| DISEASES 11277 \| TREX1 \| DISEASES 8861 \| LDB1 \| DISEASES 7849 \| PAX8 \| DISEASES 5076 \| PAX2 \| DISEASES 2649 \| NR6A1 \| DISEASES 488 \| ATP2A2 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) LMX1B \| 9q33.3

Disease ID	259
Disease	nail-patella syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:32) HP:0002817 \| Abnormality of the upper limb HP:0001373 \| Joint dislocation HP:0002758 \| Osteoarthritis HP:0100820 \| Glomerulopathy HP:0001231 \| Abnormality of the fingernails HP:0005692 \| Joint hyperflexibility HP:0002999 \| Patellar dislocation HP:0001386 \| Joint swelling HP:0001807 \| Ridged nail HP:0002652 \| Skeletal dysplasia HP:0000822 \| Hypertension HP:0000501 \| Glaucoma HP:0000083 \| Renal insufficiency HP:0000365 \| Hearing impairment HP:0006498 \| Aplasia/Hypoplasia of the patella HP:0000093 \| Proteinuria HP:0000100 \| Nephrotic syndrome HP:0002967 \| Cubitus valgus HP:0009780 \| Iliac horns HP:0002633 \| Vasculitis HP:0010624 \| Aplastic/hypoplastic toenail HP:0000790 \| Hematuria HP:0000518 \| Cataract HP:0006650 \| Thickening of the lateral border of the scapula HP:0000112 \| Nephropathy HP:0001800 \| Hypoplastic toenails HP:0001387 \| Joint stiffness HP:0100777 \| Exostoses HP:0008388 \| Abnormality of the toenails HP:0001598 \| Concave nail HP:0002814 \| Abnormality of the lower limb HP:0009811 \| Abnormality of the elbow
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0004322 \| Stature below 3rd percentile \| 1

Disease ID	259
Disease	nail-patella syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2186530 \| kidney disease C0699790 \| colon carcinoma C0403416 \| crescentic glomerulonephritis C0403396 \| steroid-responsive nephrotic syndrome C0376293 \| stigmata C0022658 \| renal disease C0022658 \| nephropathy C0017665 \| membranous nephropathy C0017661 \| iga nephropathy
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909486	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126693589	C	A,T
rs121909487	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126693243	C	T
rs121909488	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126690862	G	T
rs121909489	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B;LOC105376277	9	126615487	C	T
rs121909490	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126693273	C	T
rs121909491	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126693250	G	A
rs121909492	NA	4010	LMX1B	umls:C0027341	CLINVAR	NA	0.592109593	NA	LMX1B	9	126693527	C	T
rs28939692	11668639	4010	LMX1B	umls:C0027341	UNIPROT	Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.	0.592109593	2001	NA	NA	NA	NA	NA

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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