Disease #00019 (WD (wilson disease), OMIM:277900)
| Official abbreviation |
WD |
| Name |
wilson disease |
| OMIM ID |
277900 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 127 genes |
ABCC9, ACADM, ACADS, ACADVL, ACAT1, ACTC1, ACTN2, AKAP9, ANK2, APC, ATP7B, AXIN2, BARD1, BCL11A, BRCA1, BRCA2, BRIP1, CACNA1C, CAV3, CDC73, 107 more...ABCC9, ACADM, ACADS, ACADVL, ACAT1, ACTC1, ACTN2, AKAP9, ANK2, APC, ATP7B, AXIN2, BARD1, BCL11A, BRCA1, BRCA2, BRIP1, CACNA1C, CAV3, CDC73, CDH1, CHEK2, CPT1A, CPT2, CSRP3, CTF1, DES, DSC2, DSG2, DSP, ELAC2, EMD, EPCAM, ETFA, ETFB, ETFDH, FH, FRAS1, FREM1, FREM2, GATA1, GJB6, GLA, HADHA, HADHB, HBA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, HDAC6, HSD17B3, HSD3B2, JAG1, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIT, KLF1, KRT1, KRT10, KRT14, KRT5, KRT9, LAMP2, LDB3, LMBRD1, LMNA, MCEE, MET, MLH1, MLH3, MMAA, MMAB, MMACHC, MMADHC, MRE11A, MSH2, MSH6, MTR, MTRR, MUT, MYB, MYBPC3, MYH7, MYL2, MYL3, NBN, NMNAT1, NOTCH2, NTRK1, PALB2, PDGFRA, PKP2, PLN, PMS1, PMS2, PRKAG2, PTCH1, PTEN, RAD50, RAD51C, RET, RNASEL, SCN4B, SCN5A, SGCD, SLC22A5, SLC25A20, SNTA1, SPECC1L, SRD5A2, STK11, TAZ, TCAP, TMEM43, TNNI3, TNNT2, TPM1, VCL, VHL |
| Associated tissues |
brain |
| Disease features |
liver dysfunction, neurological features (like tremor, parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis... |
| Remarks |
low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia... |
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