All diseases

18 entries on 1 page. Showing entries 1 - 18.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00003 abnormal hemoglobin abnormal hemoglobin - - 12 - HBA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2 - -
00001 alpha-thal alpha thalassemia 604131 - 1011 1010 HBA1, HBA2 - -
00002 beta-thal beta thalassemia 613985 - 1306 1027 HBB - -
00017 BKD beta-ketothiolase deficiency 607809 - - - ACAT1 - -
00014 CACTD carnitine-acylcarnitine translocase deficiency 613698 - - - SLC25A20 - -
00012 CPT1D carnitine palmitoyltransferase 1 dificiency 600528 - - - - liver -
00013 CPT2D carnitine palmotoyltransferase 2 dificiency 600650 - - - - - -
00005 HbH Hemoglobin H disease 613978 - 662 - HBA1, HBA2 - -
00004 HPFH Hereditary persistence of fetal hemoglobin - - 5 - HBB, HBD, HBE1, HBG1, HBG2 - -
00006 Hypochromic anemia Microcytic hypochromic anemia - - 3 3 KLF1 - -
00016 MADD Multiple acyl-CoA dehydrogenase deficiency 231680 - - - ETFA, ETFB, ETFDH liver -
00009 MCADD Medium-chain Acyl-CoA dehydrogenase deficiency 607008 - - - ACADM liver -
00007 PCD Carnitine deficiency, systemic primary 212140 - - - SLC22A5 heart muscle;skeletal muscle Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis . If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure
00018 PKD Paroxysmal kinesigenic dyskinesia - AD 1 1 PRRT2, TMEM151A - -
00010 SCADD Short-chain acyl-coenzyme A dehydrogenase deficiency 606885 - - - ACADS skeletal muscle -
00015 TFPD trifunctional protein deficiency 609015 - - - HADHA, HADHB skeletal muscle -
00011 VLCADD very long chain acyl-CoA dehydrogenase deficiency 609575 - - - ACADVL heart muscle -
00019 WD wilson disease 277900 AR - - ABCC9, ACADM, ACADS, ACADVL, ACAT1, ACTC1, ACTN2, AKAP9, ANK2, APC, ATP7B, AXIN2, BARD1, BCL11A, BRCA1, BRCA2, BRIP1, CACNA1C, CAV3, CDC73, 107 more brain liver dysfunction, neurological features (like tremor, parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis...
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