Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   mucopolysaccharidosis iv
  

Disease ID 1513
Disease mucopolysaccharidosis iv
Definition
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonym
atypical chondrodystrophy
brailsford-morquio syndrome
chondro-osteodystrophy
chondrodystrophia tarda
chondroosteodystrophy
disease, morquio
disease, morquio's
eccentro osteochondrodysplasia
eccentro-osteochondrodysplasia
eccentro-osteochondrodysplasias
eccentroosteochondrodysplasia
eccentroosteochondrodysplasias
familial osseous dystrophy
familial osteochondrodystrophy
hereditary enchondral dysostosis
iv, mucopolysaccharidosis type
ivs, mucopolysaccharidosis type
keratan sulfaturia
keratan sulphaturia
keratansulfaturia
morquio - brailsford disease
morquio dis
morquio disease
morquio disease, nos
morquio syndrome
morquio syndrome (disorder)
morquio syndrome, nos
morquio syndromes
morquio's disease
morquio's syndrome
morquio-brailsford disease
morquio-brailsford syndrome
morquio-suarez syndrome
morquio-ullrich disease
morquio-ullrich syndrome
morquios dis
morquios disease
morquios syndrome
mps 4
mps iv
mucopolysaccharidosis 4
mucopolysaccharidosis iv [disease/finding]
mucopolysaccharidosis type iv
mucopolysaccharidosis type ivs
mucopolysaccharidosis, mps-iv
osteochondrodysplasia
osteochondrodystrophia deformans
osteochondrodystrophy
osteochondrodystrophy deformans, hereditary
spondylo-epiphyseal dysplasia
syndrome morquio's
syndrome, morquio
syndrome, morquio's
syndromes, morquio
type iv, mucopolysaccharidosis
type ivs, mucopolysaccharidosis
DOID
UMLS
C0026707
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0410528  |  skeletal dysplasia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:37)
FLNB  |  2317  |  GHR
CREB3L1  |  90993  |  UniProtKB-KW
COL1A2  |  1278  |  UniProtKB-KW;GHR
COL1A1  |  1277  |  UniProtKB-KW;GHR
RUNX2  |  860  |  GHR
FKBP10  |  60681  |  UniProtKB-KW
IFITM5  |  387733  |  UniProtKB-KW
LRP5  |  4041  |  UniProtKB-KW
COL9A1  |  1297  |  GHR
ANO5  |  203859  |  UniProtKB-KW
P4HB  |  5034  |  UniProtKB-KW
COL2A1  |  1280  |  GHR
MATN3  |  4148  |  GHR
COL9A2  |  1298  |  GHR
SERPINF1  |  5176  |  UniProtKB-KW
COMP  |  1311  |  GHR
FGFR3  |  2261  |  GHR
SPG7  |  6687  |  UniProtKB-KW
SEC24D  |  9871  |  UniProtKB-KW
PLOD2  |  5352  |  UniProtKB-KW
COL11A2  |  1302  |  GHR
GALNS  |  2588  |  CTD_human
CRTAP  |  10491  |  UniProtKB-KW;GHR
SPARC  |  6678  |  UniProtKB-KW
SP7  |  121340  |  UniProtKB-KW
SLC26A2  |  1836  |  GHR
BMP1  |  649  |  UniProtKB-KW
GLB1  |  2720  |  CTD_human
CHST3  |  9469  |  GHR
SOX9  |  6662  |  GHR
SERPINH1  |  871  |  UniProtKB-KW
PPIB  |  5479  |  UniProtKB-KW
TRAPPC2  |  6399  |  GHR
COL9A3  |  1299  |  GHR
TMEM38B  |  55151  |  UniProtKB-KW
TRIP11  |  9321  |  GHR
WNT1  |  7471  |  UniProtKB-KW
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:373)
4074  |  M6PR  |  DISEASES
3097  |  HIVEP2  |  DISEASES
64132  |  XYLT2  |  DISEASES
6344  |  SCTR  |  DISEASES
11285  |  B4GALT7  |  DISEASES
1634  |  DCN  |  DISEASES
7092  |  TLL1  |  DISEASES
3835  |  KIF22  |  DISEASES
53405  |  CLIC5  |  DISEASES
79041  |  TMEM38A  |  DISEASES
6561  |  SLC13A1  |  DISEASES
5351  |  PLOD1  |  DISEASES
84572  |  GNPTG  |  DISEASES
51310  |  SLC22A17  |  DISEASES
5711  |  PSMD5  |  DISEASES
266  |  AMELY  |  DISEASES
5427  |  POLE2  |  DISEASES
412  |  STS  |  DISEASES
54  |  ACP5  |  DISEASES
55512  |  SMPD3  |  DISEASES
7783  |  ZP2  |  DISEASES
54922  |  RASIP1  |  DISEASES
1311  |  COMP  |  DISEASES
55033  |  FKBP14  |  DISEASES
30851  |  TAX1BP3  |  DISEASES
1277  |  COL1A1  |  DISEASES
1277  |  COL1A1  |  DISEASES
3381  |  IBSP  |  DISEASES
2690  |  GHR  |  DISEASES
6678  |  SPARC  |  DISEASES
23169  |  SLC35D1  |  DISEASES
8074  |  FGF23  |  DISEASES
11064  |  CNTRL  |  DISEASES
4488  |  MSX2  |  DISEASES
5396  |  PRRX1  |  DISEASES
8600  |  TNFSF11  |  DISEASES
9496  |  TBX4  |  DISEASES
3764  |  KCNJ8  |  DISEASES
7291  |  TWIST1  |  DISEASES
1300  |  COL10A1  |  DISEASES
3759  |  KCNJ2  |  DISEASES
5184  |  PEPD  |  DISEASES
652  |  BMP4  |  DISEASES
6662  |  SOX9  |  DISEASES
6662  |  SOX9  |  DISEASES
7389  |  UROD  |  DISEASES
51119  |  SBDS  |  DISEASES
10343  |  PKDREJ  |  DISEASES
5176  |  SERPINF1  |  DISEASES
325  |  APCS  |  DISEASES
23608  |  MKRN1  |  DISEASES
1965  |  EIF2S1  |  DISEASES
81796  |  SLCO5A1  |  DISEASES
4322  |  MMP13  |  DISEASES
1833  |  EPYC  |  DISEASES
10060  |  ABCC9  |  DISEASES
2581  |  GALC  |  DISEASES
4040  |  LRP6  |  DISEASES
64131  |  XYLT1  |  DISEASES
7450  |  VWF  |  DISEASES
1535  |  CYBA  |  DISEASES
59341  |  TRPV4  |  DISEASES
54962  |  TIPIN  |  DISEASES
338917  |  VSX2  |  DISEASES
9894  |  TELO2  |  DISEASES
10847  |  SRCAP  |  DISEASES
54928  |  IMPAD1  |  DISEASES
8190  |  MIA  |  DISEASES
3977  |  LIFR  |  DISEASES
90  |  ACVR1  |  DISEASES
867  |  CBL  |  DISEASES
1386  |  ATF2  |  DISEASES
2247  |  FGF2  |  DISEASES
658  |  BMPR1B  |  DISEASES
53834  |  FGFRL1  |  DISEASES
411  |  ARSB  |  DISEASES
2121  |  EVC  |  DISEASES
51726  |  DNAJB11  |  DISEASES
9061  |  PAPSS1  |  DISEASES
10371  |  SEMA3A  |  DISEASES
7982  |  ST7  |  DISEASES
22797  |  TFEC  |  DISEASES
5172  |  SLC26A4  |  DISEASES
6595  |  SMARCA2  |  DISEASES
38  |  ACAT1  |  DISEASES
9321  |  TRIP11  |  DISEASES
2588  |  GALNS  |  DISEASES
2588  |  GALNS  |  DISEASES
5636  |  PRPSAP2  |  DISEASES
54808  |  DYM  |  DISEASES
1513  |  CTSK  |  DISEASES
3930  |  LBR  |  DISEASES
805  |  CALM2  |  DISEASES
23233  |  EXOC6B  |  DISEASES
6574  |  SLC20A1  |  DISEASES
285362  |  SUMF1  |  DISEASES
54532  |  USP53  |  DISEASES
1404  |  HAPLN1  |  DISEASES
8817  |  FGF18  |  DISEASES
4794  |  NFKBIE  |  DISEASES
23196  |  FAM120A  |  DISEASES
4851  |  NOTCH1  |  DISEASES
64849  |  SLC13A3  |  DISEASES
7108  |  TM7SF2  |  DISEASES
9871  |  SEC24D  |  DISEASES
5741  |  PTH  |  DISEASES
1834  |  DSPP  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
5352  |  PLOD2  |  DISEASES
654  |  BMP6  |  DISEASES
3773  |  KCNJ16  |  DISEASES
56172  |  ANKH  |  DISEASES
89780  |  WNT3A  |  DISEASES
9601  |  PDIA4  |  DISEASES
1836  |  SLC26A2  |  DISEASES
9131  |  AIFM1  |  DISEASES
54102  |  CLIC6  |  DISEASES
808  |  CALM3  |  DISEASES
6777  |  STAT5B  |  DISEASES
7471  |  WNT1  |  DISEASES
30812  |  SOX8  |  DISEASES
4041  |  LRP5  |  DISEASES
4880  |  NPPC  |  DISEASES
3549  |  IHH  |  DISEASES
5500  |  PPP1CB  |  DISEASES
6100  |  RP9  |  DISEASES
6469  |  SHH  |  DISEASES
1278  |  COL1A2  |  DISEASES
1278  |  COL1A2  |  DISEASES
26266  |  SLC13A4  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
10818  |  FRS2  |  DISEASES
5479  |  PPIB  |  DISEASES
5479  |  PPIB  |  DISEASES
861  |  RUNX1  |  DISEASES
9780  |  PIEZO1  |  DISEASES
55957  |  LIN37  |  DISEASES
7083  |  TK1  |  DISEASES
50964  |  SOST  |  DISEASES
8313  |  AXIN2  |  DISEASES
3479  |  IGF1  |  DISEASES
2990  |  GUSB  |  DISEASES
121340  |  SP7  |  DISEASES
55699  |  IARS2  |  DISEASES
5190  |  PEX6  |  DISEASES
5308  |  PITX2  |  DISEASES
1281  |  COL3A1  |  DISEASES
2548  |  GAA  |  DISEASES
649  |  BMP1  |  DISEASES
83452  |  RAB33B  |  DISEASES
10484  |  SEC23A  |  DISEASES
2720  |  GLB1  |  DISEASES
51778  |  MYOZ2  |  DISEASES
9451  |  EIF2AK3  |  DISEASES
124583  |  CANT1  |  DISEASES
10238  |  DCAF7  |  DISEASES
9986  |  RCE1  |  DISEASES
115111  |  SLC26A7  |  DISEASES
3265  |  HRAS  |  DISEASES
55790  |  CSGALNACT1  |  DISEASES
2286  |  FKBP2  |  DISEASES
6208  |  RPS14  |  DISEASES
6578  |  SLCO2A1  |  DISEASES
4281  |  MID1  |  DISEASES
57539  |  WDR35  |  DISEASES
2629  |  GBA  |  DISEASES
6448  |  SGSH  |  DISEASES
60681  |  FKBP10  |  DISEASES
64755  |  C16orf58  |  DISEASES
6819  |  SULT1C2  |  DISEASES
2253  |  FGF8  |  DISEASES
5745  |  PTH1R  |  DISEASES
6657  |  SOX2  |  DISEASES
10491  |  CRTAP  |  DISEASES
10491  |  CRTAP  |  DISEASES
55553  |  SOX6  |  DISEASES
2200  |  FBN1  |  DISEASES
3590  |  IL11RA  |  DISEASES
79228  |  THOC6  |  DISEASES
64327  |  LMBR1  |  DISEASES
633  |  BGN  |  DISEASES
1435  |  CSF1  |  DISEASES
23467  |  NPTXR  |  DISEASES
5034  |  P4HB  |  DISEASES
796  |  CALCA  |  DISEASES
1287  |  COL4A5  |  DISEASES
2248  |  FGF3  |  DISEASES
124626  |  ZPBP2  |  DISEASES
80254  |  CEP63  |  DISEASES
84324  |  SARNP  |  DISEASES
2246  |  FGF1  |  DISEASES
445329  |  SULT1A4  |  DISEASES
2261  |  FGFR3  |  DISEASES
93  |  ACVR2B  |  DISEASES
4882  |  NPR2  |  DISEASES
1299  |  COL9A3  |  DISEASES
115019  |  SLC26A9  |  DISEASES
342977  |  NANOS3  |  DISEASES
132884  |  EVC2  |  DISEASES
2305  |  FOXM1  |  DISEASES
344901  |  OSTN  |  DISEASES
79648  |  MCPH1  |  DISEASES
8785  |  MATN4  |  DISEASES
864  |  RUNX3  |  DISEASES
6818  |  SULT1A3  |  DISEASES
10252  |  SPRY1  |  DISEASES
55755  |  CDK5RAP2  |  DISEASES
8481  |  OFD1  |  DISEASES
285489  |  DOK7  |  DISEASES
1499  |  CTNNB1  |  DISEASES
9158  |  FIBP  |  DISEASES
3767  |  KCNJ11  |  DISEASES
1811  |  SLC26A3  |  DISEASES
797  |  CALCB  |  DISEASES
65992  |  DDRGK1  |  DISEASES
2331  |  FMOD  |  DISEASES
116369  |  SLC26A8  |  DISEASES
1785  |  DNM2  |  DISEASES
5358  |  PLS3  |  DISEASES
11060  |  WWP2  |  DISEASES
200734  |  SPRED2  |  DISEASES
219844  |  HYLS1  |  DISEASES
30968  |  STOML2  |  DISEASES
6651  |  SON  |  DISEASES
2224  |  FDPS  |  DISEASES
3482  |  IGF2R  |  DISEASES
801  |  CALM1  |  DISEASES
5828  |  PEX2  |  DISEASES
1297  |  COL9A1  |  DISEASES
50485  |  SMARCAL1  |  DISEASES
6597  |  SMARCA4  |  DISEASES
871  |  SERPINH1  |  DISEASES
8913  |  CACNA1G  |  DISEASES
617  |  BCS1L  |  DISEASES
8822  |  FGF17  |  DISEASES
8076  |  MFAP5  |  DISEASES
5116  |  PCNT  |  DISEASES
11177  |  BAZ1A  |  DISEASES
256764  |  WDR72  |  DISEASES
9361  |  LONP1  |  DISEASES
25937  |  WWTR1  |  DISEASES
6663  |  SOX10  |  DISEASES
56955  |  MEPE  |  DISEASES
6772  |  STAT1  |  DISEASES
460  |  ASTN1  |  DISEASES
4519  |  MT-CYB  |  DISEASES
4541  |  MT-ND6  |  DISEASES
10861  |  SLC26A1  |  DISEASES
8838  |  WISP3  |  DISEASES
57692  |  MAGEE1  |  DISEASES
5083  |  PAX9  |  DISEASES
284129  |  SLC26A11  |  DISEASES
92344  |  GORAB  |  DISEASES
55811  |  ADCY10  |  DISEASES
4921  |  DDR2  |  DISEASES
6708  |  SPTA1  |  DISEASES
632  |  BGLAP  |  DISEASES
81847  |  RNF146  |  DISEASES
7059  |  THBS3  |  DISEASES
4881  |  NPR1  |  DISEASES
7286  |  TUFT1  |  DISEASES
1520  |  CTSS  |  DISEASES
6001  |  RGS10  |  DISEASES
9096  |  TBX18  |  DISEASES
537  |  ATP6AP1  |  DISEASES
2316  |  FLNA  |  DISEASES
1301  |  COL11A1  |  DISEASES
79955  |  PDZD7  |  DISEASES
6658  |  SOX3  |  DISEASES
2258  |  FGF13  |  DISEASES
51557  |  LGSN  |  DISEASES
2778  |  GNAS  |  DISEASES
860  |  RUNX2  |  DISEASES
8464  |  SUPT3H  |  DISEASES
202500  |  TCTE1  |  DISEASES
1289  |  COL5A1  |  DISEASES
114034  |  TOE1  |  DISEASES
5476  |  CTSA  |  DISEASES
10864  |  SLC22A7  |  DISEASES
1298  |  COL9A2  |  DISEASES
9469  |  CHST3  |  DISEASES
4146  |  MATN1  |  DISEASES
80114  |  BICC1  |  DISEASES
8200  |  GDF5  |  DISEASES
55151  |  TMEM38B  |  DISEASES
3339  |  HSPG2  |  DISEASES
1302  |  COL11A2  |  DISEASES
249  |  ALPL  |  DISEASES
54829  |  ASPN  |  DISEASES
4758  |  NEU1  |  DISEASES
10082  |  GPC6  |  DISEASES
353  |  APRT  |  DISEASES
3980  |  LIG3  |  DISEASES
650  |  BMP2  |  DISEASES
190  |  NR0B1  |  DISEASES
126792  |  B3GALT6  |  DISEASES
5251  |  PHEX  |  DISEASES
146691  |  TOM1L2  |  DISEASES
5393  |  EXOSC9  |  DISEASES
1280  |  COL2A1  |  DISEASES
54875  |  CNTLN  |  DISEASES
265  |  AMELX  |  DISEASES
1645  |  AKR1C1  |  DISEASES
3486  |  IGFBP3  |  DISEASES
51481  |  VCX3A  |  DISEASES
347527  |  ARSH  |  DISEASES
415  |  ARSE  |  DISEASES
6473  |  SHOX  |  DISEASES
55835  |  CENPJ  |  DISEASES
51199  |  NIN  |  DISEASES
2254  |  FGF9  |  DISEASES
579  |  NKX3-2  |  DISEASES
387733  |  IFITM5  |  DISEASES
4487  |  MSX1  |  DISEASES
1186  |  CLCN7  |  DISEASES
6736  |  SRY  |  DISEASES
79705  |  LRRK1  |  DISEASES
8878  |  SQSTM1  |  DISEASES
6833  |  ABCC8  |  DISEASES
374654  |  KIF7  |  DISEASES
89970  |  RSPRY1  |  DISEASES
594855  |  CPLX3  |  DISEASES
6696  |  SPP1  |  DISEASES
51343  |  FZR1  |  DISEASES
65010  |  SLC26A6  |  DISEASES
7227  |  TRPS1  |  DISEASES
5744  |  PTHLH  |  DISEASES
10117  |  ENAM  |  DISEASES
79659  |  DYNC2H1  |  DISEASES
4148  |  MATN3  |  DISEASES
79174  |  CRELD2  |  DISEASES
202018  |  TAPT1  |  DISEASES
176  |  ACAN  |  DISEASES
1747  |  DLX3  |  DISEASES
55599  |  RNPC3  |  DISEASES
3481  |  IGF2  |  DISEASES
6399  |  TRAPPC2  |  DISEASES
2260  |  FGFR1  |  DISEASES
4988  |  OPRM1  |  DISEASES
25801  |  GCA  |  DISEASES
6660  |  SOX5  |  DISEASES
26013  |  L3MBTL1  |  DISEASES
118460  |  EXOSC6  |  DISEASES
6474  |  SHOX2  |  DISEASES
64084  |  CLSTN2  |  DISEASES
9060  |  PAPSS2  |  DISEASES
162466  |  PHOSPHO1  |  DISEASES
54900  |  LAX1  |  DISEASES
2263  |  FGFR2  |  DISEASES
6424  |  SFRP4  |  DISEASES
1028  |  CDKN1C  |  DISEASES
51661  |  FKBP7  |  DISEASES
5635  |  PRPSAP1  |  DISEASES
865  |  CBFB  |  DISEASES
2317  |  FLNB  |  DISEASES
4750  |  NEK1  |  DISEASES
5238  |  PGM3  |  DISEASES
142678  |  MIB2  |  DISEASES
1750  |  DLX6  |  DISEASES
5333  |  PLCD1  |  DISEASES
3347  |  HTN3  |  DISEASES
7873  |  MANF  |  DISEASES
90993  |  CREB3L1  |  DISEASES
9820  |  CUL7  |  DISEASES
1649  |  DDIT3  |  DISEASES
23131  |  GPATCH8  |  DISEASES
5608  |  MAP2K6  |  DISEASES
10984  |  KCNQ1OT1  |  DISEASES
79104  |  MEG8  |  DISEASES
6023  |  RMRP  |  DISEASES
100151683  |  RNU4ATAC  |  DISEASES
6080  |  SNORA73A  |  DISEASES
100038246  |  TLX1NB  |  DISEASES
Locus(Waiting for update.)
Disease ID 1513
Disease mucopolysaccharidosis iv
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:6)
Disease ID 1513
Disease mucopolysaccharidosis iv
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:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11820443788296292588GALNSumls:C0026707BeFreeMucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.0.1227144191996GALNS1688824853GA
rs78311289180009032261FGFR3umls:C0026707BeFreeAcanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.0.0005428842007FGFR341806162AC,G
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.)