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: primary renal tubular acidosis (MONDO:0017828)
..Starting node ..distal renal tubular acidosis (disease) ()
Child Nodes:
........autosomal dominant distal renal tubular acidosis ()
........autosomal recessive distal renal tubular acidosis ()
........distal renal tubular acidosis with anemia ()
Sister Nodes:
..autosomal recessive osteopetrosis 3 ()
..central nervous system calcification-deafness-tubular acidosis-anemia syndrome ()
..distal renal tubular acidosis (disease) ()
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..proximal renal tubular acidosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15827
Name:	distal renal tubular acidosis (disease)
Definition:	Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	classic RTA; distal renal tubular acidosis; dRTA; familial distal primary acidosis; renal tubular acidosis type 1; renal tubular acidosis, distal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal