MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: nutritional deficiency disease (MONDO:0006873)
..Starting node ..potassium deficiency ()
Child Nodes:
Sister Nodes:
..acquired night blindness ()
..ariboflavinosis ()
..ascorbic acid deficiency ()
..choline deficiency disease ()
..endemic goiter ()
..folic acid deficiency anemia ()
..iron deficiency anemia ()
..Keshan disease ()
..magnesium deficiency ()
..pellagra ()
..pernicious anemia ()
..potassium deficiency ()
..protein-energy malnutrition ()
..steatitis ()
..swayback ()
..vitamin deficiency disorder ()
..Wernicke-Korsakoff syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6919
Name:	potassium deficiency
Definition:	A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: MC1R;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal