Pseudohyperkalemia, familial, 2, due to red cell leak

Preferred Label : Pseudohyperkalemia, familial, 2, due to red cell leak;

Symbol : PSHK2;

CISMeF acronym : PSHK2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudohyperkalemia east london; Cryohydrocytosis, mild; Pseudohyperkalemia lille; Pseudohyperkalemia falkirk; Pseudohyperkalemia chiswick; Pseudohyperkalemia cardiff;

Description : Haines et al. (2001) described a family with pseudohyperkalemia living in Chiswick in the UK but of Austrian origin. Isotopic tracer studies showed this family to be clearly different from the Edinburgh pedigree in that the temperature dependence of the ouabain-plus-bumetanide-resistant potassium flux (reflecting the passive leak) showed a novel 'shoulder' abnormality with a minimum at 25 degrees C rising to a maximum at 10 degrees C, followed by a further fall. They also examined a Falkirk (Scotland) family previously studied by Meenaghan et al. (1985) and reported findings similar to those in the Austrian family. Carella et al. (2004) reported a large kindred of Flemish descent with familial pseudohyperkalemia, designated FP Lille. Although the pseudohyperkalemia was indistinguishable from FP Edinburgh (see 194380), microsatellite analysis excluded the locus for that disorder at 16q23-qter. A genome scan mapped the FP Lille locus to chromosome 2q35-q36 with a lod score of 8.46 for marker D2S1338. No mutation was found in several plausible candidate genes in this region, including;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 6 gene (ABCB6, 605452.0013);

Laboratory abnormalities : Normal serum potassium in blood tested immediately after drawing; Elevated serum potassium in blood stored at less than 37 degrees centigrade;

Prefixed ID : #609153;

Details

Origin ID

609153;

UMLS CUI

C1836705;

Automatic exact mappings (from CISMeF team)
- Familial pseudohyperkalemia [ORDO Disease]
- Pseudohyperkalemia Cardiff [MeSH concept]
- pseudohyperkalemia cardiff [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- pseudohyperkalemia, familial, 2, due to red cell leak [MeSH concept]
- pseudohyperkalemia, familial, 2, due to red cell leak [MeSH Supplementary Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily b, member 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized muscle weakness [HPO term]
- Hand tremor [HPO term]
- Hyperkalemia [HPO term]
- Muscle spasm [HPO term]
- Periodic paralysis [HPO term]
Not associated HPO term(s)
- Hemolytic anemia [HPO term]
ORDO concept(s)
- Familial pseudohyperkalemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial pseudohyperkalemia [ORDO Disease]
- pseudohyperkalemia, familial, 2, due to red cell leak [MeSH Supplementary Concept]
- pseudohyperkalemia, familial, 2, due to red cell leak [MeSH concept]

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