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: Bartter syndrome (MONDO:0015231)
Parent Node: syndrome with hypoparathyroidism (MONDO:0015895)
..Starting node ..Bartter syndrome with hypocalcemia ()
Child Nodes:
Sister Nodes:
..22q11.2 deletion syndrome ()
..Bartter syndrome with hypocalcemia ()
..Dahlberg-borer-Newcomer syndrome ()
..hypoparathyroidism-deafness-renal disease syndrome ()
..hypoparathyroidism-retardation-dysmorphism syndrome ()
..Kearns-Sayre syndrome () L: 00143;
..Kenny-Caffey syndrome ()
..long chain 3-hydroxyacyl-CoA dehydrogenase deficiency () L: 00474;
..Pearson syndrome () L: 00169;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16983
Name:	Bartter syndrome with hypocalcemia
Definition:	Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH; see this term)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Bartter syndrome type 5; Bartter syndrome type V
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal