PSHK2
MCID: PSD063
MIFTS: 50

Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak (PSHK2)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

MalaCards integrated aliases for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

Name: Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 58 76 30 13 6 74
Pseudohyperkalemia Cardiff 58 54 76 30 6 74
Pseudohyperkalemia East London 58 76
Pseudohyperkalemia Chiswick 58 76
Familial Pseudohyperkalemia 60 38
Pseudohyperkalemia Falkirk 58 76
Pseudohyperkalemia Lille 58 76
Cryohydrocytosis, Mild 58 76
Pshk2 58 76
Stomatocytosis, Cold-Sensitive 54
Pseudohyperkalemia, Familial 13
Cryohydrocytosis 54
Hyperkalemia 45

Characteristics:

Orphanet epidemiological data:

60
familial pseudohyperkalemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
'shoulder' pattern of temperature-dependent potassium flux (in some patients)
u-shaped pattern of temperature-dependent potassium flux (in some patients)


HPO:

33
pseudohyperkalemia, familial, 2, due to red cell leak:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609153
KEGG 38 H02001
MeSH 45 D006947
ICD10 34 E87.5
ICD10 via Orphanet 35 D58.8
UMLS via Orphanet 75 C1836705
Orphanet 60 ORPHA90044
MedGen 43 C1836705

Summaries for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

OMIM : 58 'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. (609153)

MalaCards based summary : Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak, also known as pseudohyperkalemia cardiff, is related to hypoaldosteronism and pseudohypoaldosteronism, type i, autosomal recessive. An important gene associated with Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are PI3K / Akt Signaling and Aldosterone-regulated sodium reabsorption. Affiliated tissues include heart, kidney and whole blood, and related phenotypes are hyperkalemia and hypertension

UniProtKB/Swiss-Prot : 76 Pseudohyperkalemia, familial, 2, due to red cell leak: A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.

Wikipedia : 77 Hyperkalemia, also spelled hyperkalaemia, is an elevated level of potassium (K+) in the blood serum.... more...

Related Diseases for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 hypoaldosteronism 32.3 ACE CYP11B2 REN
2 pseudohypoaldosteronism, type i, autosomal recessive 32.2 NR3C2 REN SCNN1G
3 hypokalemia 30.7 ACE KCNJ1 NR3C2 REN
4 metabolic acidosis 30.6 SCNN1G SLC4A1 WNK1 WNK4
5 congestive heart failure 30.4 ACE NR3C2 REN
6 renal tubular acidosis 30.2 NR3C2 REN SCNN1G SLC4A1
7 aldosterone-producing adenoma 30.1 CYP11B2 CYP21A2
8 pseudohypoaldosteronism 30.0 KCNJ1 NR3C2 REN SCNN1G WNK1 WNK4
9 kidney disease 30.0 ACE AGTR2 NR3C2 REN
10 heart valve disease 29.9 ACE NR3C2 REN
11 pulmonary edema 29.7 ACE PIK3C2A REN
12 acute myocardial infarction 29.6 ACE MB PIK3C2A
13 acute kidney failure 29.5 MB PIK3C2A REN
14 malignant hyperthermia 29.4 MB PIK3C2A SCN4A
15 myocardial infarction 29.3 ACE AGTR2 MB NR3C2 PIK3C2A REN
16 anuria 29.1 ACE MB NR3C2 PIK3C2A REN
17 stomatin-deficient cryohydrocytosis with neurologic defects 12.7
18 cryohydrocytosis 12.6
19 pseudohypoaldosteronism, type iie 12.1
20 pseudohypoaldosteronism, type iia 12.0
21 stomatocytosis i 11.5
22 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.5
23 pseudohypoaldosteronism, type iib 11.3
24 pseudohypoaldosteronism, type iid 11.1
25 glut1 deficiency syndrome 1 11.1
26 hyperchlorhidrosis, isolated 11.0
27 pseudohypoaldosteronism, type iic 11.0
28 autosomal dominant tubulointerstitial kidney disease 11.0
29 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.0
30 renal tubular acidosis, distal 11.0
31 corticosterone methyloxidase deficiency 11.0
32 renal artery obstruction 10.3 ACE REN
33 hypertension, diastolic 10.3 ACE REN
34 tick paralysis 10.3 PIK3C2A SLC4A1
35 hypertensive encephalopathy 10.3 ACE REN
36 hypertensive retinopathy 10.3 ACE REN
37 hypoglycemia 10.3
38 renal artery disease 10.3 ACE REN
39 orthostatic proteinuria 10.3 ACE REN
40 cardiac arrest 10.3
41 rere-related disorders 10.3
42 acute anterolateral myocardial infarction 10.3 ACE PIK3C2A
43 chronic kidney failure 10.2
44 fiedler's myocarditis 10.2 ACE PIK3C2A
45 apparent mineralocorticoid excess 10.2 NR3C2 REN
46 diabetes mellitus, ketosis-prone 10.2
47 familial vesicoureteral reflux 10.2 ACE AGTR2
48 bartter syndrome, type 2, antenatal 10.2 KCNJ1 NR3C2 SCNN1G
49 multicystic dysplastic kidney 10.2 AGTR2 REN
50 atrial standstill 1 10.2

Graphical network of the top 20 diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:



Diseases related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Symptoms & Phenotypes for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Human phenotypes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkalemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002153
2 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
3 stomatocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0004446
4 reticulocytosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001923
5 increased mean corpuscular volume 60 33 occasional (7.5%) Occasional (29-5%) HP:0005518
6 episodic hemolytic anemia 60 33 very rare (1%) Very rare (<4-1%) HP:0004802
7 generalized muscle weakness 33 HP:0003324
8 hand tremor 33 HP:0002378
9 periodic paralysis 33 HP:0003768
10 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Hematology:
normal red cell morphology
no significant hemolysis
increased passive permeability of potassium through red cell membrane at reduced temperatures
unchanged passive permeability of sodium through red cell membrane at reduced temperatures
macrocytosis after 24 hours on ice (in some patients)

Laboratory Abnormalities:
elevated serum potassium in blood stored at less than 37 degrees centigrade
normal serum potassium in blood tested immediately after drawing

Clinical features from OMIM:

609153

MGI Mouse Phenotypes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ACE AGTR2 CYP11B2 FOLR1 KCNJ1 MB
2 growth/size/body region MP:0005378 10.18 ACE AGTR2 CYP11B2 FOLR1 KCNJ1 MB
3 homeostasis/metabolism MP:0005376 10.13 ABCB6 ACE AGTR2 CYP11B2 FOLR1 KCNJ1
4 hematopoietic system MP:0005397 10.02 ABCB6 ACE CYP11B2 KCNJ1 MB NR3C2
5 mortality/aging MP:0010768 9.97 ABCB6 ACE AGTR2 FOLR1 KCNJ1 MB
6 muscle MP:0005369 9.5 AGTR2 MB NR3C2 REN SCN4A SLC4A1
7 renal/urinary system MP:0005367 9.4 ACE AGTR2 CYP11B2 FOLR1 KCNJ1 NR3C2

Drugs & Therapeutics for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Search Clinical Trials , NIH Clinical Center for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Cochrane evidence based reviews: hyperkalemia

Genetic Tests for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Genetic tests related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

# Genetic test Affiliating Genes
1 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 30 ABCB6
2 Pseudohyperkalemia Cardiff 30 SLC4A1

Anatomical Context for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

MalaCards organs/tissues related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

42
Heart, Kidney, Whole Blood, Testes, Thyroid, Cortex, Adrenal Gland

Publications for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Articles related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

(show all 16)
# Title Authors Year
1
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. ( 27151991 )
2016
2
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. ( 24947683 )
2014
3
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. ( 23180570 )
2013
4
Familial pseudohyperkalemia: a rare syndrome, but diverse genetic heterogeneity. ( 16157971 )
2005
5
Familial pseudohyperkalemia: a rare cause of hyperkalemia. ( 16157991 )
2005
6
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. ( 16227998 )
2005
7
Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form. ( 15142123 )
2004
8
Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. ( 11918557 )
2002
9
Two further British families with the 'cryohydrocytosis' form of hereditary stomatocytosis. ( 11442486 )
2001
10
Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis. ( 10554820 )
1999
11
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). ( 10216110 )
1999
12
A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. ( 10050708 )
1999
13
Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family. ( 7831176 )
1994
14
Altered erythrocyte cation permeability in familial pseudohyperkalaemia. ( 2766660 )
1989
15
Temperature sensitivity of potassium flux into red blood cells in the familial pseudohyperkalaemia syndrome. ( 2998465 )
1985
16
Possible screening test for familial pseudohyperkalaemia. ( 6123793 )
1982

Variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

UniProtKB/Swiss-Prot genetic disease variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

76
# Symbol AA change Variation ID SNP ID
1 ABCB6 p.Arg375Gln VAR_071133 rs754667801
2 ABCB6 p.Arg375Trp VAR_071134 rs764893806
3 ABCB6 p.Arg723Gln VAR_076206 rs148211042

ClinVar genetic disease variations for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A1 NM_000342.3(SLC4A1): c.118G> A (p.Glu40Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45562031 GRCh37 Chromosome 17, 42338993: 42338993
2 SLC4A1 NM_000342.3(SLC4A1): c.118G> A (p.Glu40Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45562031 GRCh38 Chromosome 17, 44261625: 44261625
3 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh37 Chromosome 17, 42333076: 42333076
4 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh38 Chromosome 17, 44255708: 44255708
5 ABCB6 NM_005689.4(ABCB6): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs754667801 GRCh37 Chromosome 2, 220080749: 220080749
6 ABCB6 NM_005689.4(ABCB6): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs754667801 GRCh38 Chromosome 2, 219216027: 219216027
7 ABCB6 NM_005689.4(ABCB6): c.1123C> T (p.Arg375Trp) single nucleotide variant Pathogenic rs764893806 GRCh37 Chromosome 2, 220080750: 220080750
8 ABCB6 NM_005689.4(ABCB6): c.1123C> T (p.Arg375Trp) single nucleotide variant Pathogenic rs764893806 GRCh38 Chromosome 2, 219216028: 219216028
9 ABCB6 NM_005689.3(ABCB6): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic rs148211042 GRCh37 Chromosome 2, 220075521: 220075521
10 ABCB6 NM_005689.3(ABCB6): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic rs148211042 GRCh38 Chromosome 2, 219210799: 219210799
11 SLC4A1 NM_000342.3(SLC4A1): c.2191T> C (p.Ser731Pro) single nucleotide variant Pathogenic rs863225461 GRCh37 Chromosome 17, 42330606: 42330606
12 SLC4A1 NM_000342.3(SLC4A1): c.2191T> C (p.Ser731Pro) single nucleotide variant Pathogenic rs863225461 GRCh38 Chromosome 17, 44253238: 44253238
13 SLC4A1 NM_000342.3(SLC4A1): c.2201A> G (p.His734Arg) single nucleotide variant Pathogenic rs863225462 GRCh37 Chromosome 17, 42330596: 42330596
14 SLC4A1 NM_000342.3(SLC4A1): c.2201A> G (p.His734Arg) single nucleotide variant Pathogenic rs863225462 GRCh38 Chromosome 17, 44253228: 44253228
15 SLC4A1 NM_000342.3(SLC4A1): c.2060T> C (p.Leu687Pro) single nucleotide variant Pathogenic rs863225463 GRCh37 Chromosome 17, 42330737: 42330737
16 SLC4A1 NM_000342.3(SLC4A1): c.2060T> C (p.Leu687Pro) single nucleotide variant Pathogenic rs863225463 GRCh38 Chromosome 17, 44253369: 44253369
17 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200926310 GRCh37 Chromosome 2, 227877028: 227877028
18 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200926310 GRCh38 Chromosome 2, 227012312: 227012312
19 COL4A4 NM_000092.4(COL4A4): c.3055G> C (p.Glu1019Gln) single nucleotide variant Uncertain significance rs1057518854 GRCh37 Chromosome 2, 227915788: 227915788
20 COL4A4 NM_000092.4(COL4A4): c.3055G> C (p.Glu1019Gln) single nucleotide variant Uncertain significance rs1057518854 GRCh38 Chromosome 2, 227051072: 227051072
21 CLCN5 NM_000084.4(CLCN5): c.1341del (p.Met448Terfs) deletion Likely pathogenic rs1557194090 GRCh37 Chromosome X, 49851521: 49851521
22 CLCN5 NM_000084.4(CLCN5): c.1341del (p.Met448Terfs) deletion Likely pathogenic rs1557194090 GRCh38 Chromosome X, 50086864: 50086864

Expression for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Search GEO for disease gene expression data for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak.

Pathways for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Pathways related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.3 PIK3C2A WNK1 WNK4
2 10.7 KCNJ1 NR3C2 SCNN1G
3
Show member pathways
10.6 CYP11B2 CYP21A2
4 10.39 KCNJ1 SCNN1G WNK1 WNK4

GO Terms for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Cellular components related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.5 ABCB6 ACE AGTR2 CYP11B2 CYP21A2 FOLR1

Biological processes related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.61 ACE AGTR2 REN
2 sterol metabolic process GO:0016125 9.58 CYP11B2 CYP21A2
3 amyloid-beta metabolic process GO:0050435 9.57 ACE REN
4 regulation of blood vessel diameter GO:0097746 9.56 ACE AGTR2
5 angiotensin maturation GO:0002003 9.55 ACE REN
6 sodium ion homeostasis GO:0055078 9.54 CYP11B2 SCNN1G
7 glucocorticoid biosynthetic process GO:0006704 9.52 CYP11B2 CYP21A2
8 ion homeostasis GO:0050801 9.51 WNK1 WNK4
9 positive regulation of systemic arterial blood pressure GO:0003084 9.49 ACE WNK1
10 positive regulation of ion transmembrane transporter activity GO:0032414 9.48 WNK1 WNK4
11 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.46 WNK1 WNK4
12 ion transport GO:0006811 9.43 KCNJ1 SCN4A SCNN1G SLC4A1 WNK1 WNK4
13 negative regulation of sodium ion transport GO:0010766 9.4 WNK1 WNK4
14 positive regulation of potassium ion import GO:1903288 9.37 WNK1 WNK4
15 negative regulation of pancreatic juice secretion GO:0090188 9.32 WNK1 WNK4
16 mineralocorticoid biosynthetic process GO:0006705 9.26 CYP11B2 CYP21A2
17 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 AGTR2 REN
18 regulation of cellular process GO:0050794 8.62 WNK1 WNK4

Molecular functions related to Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.32 CYP21A2 NR3C2
2 steroid hydroxylase activity GO:0008395 9.26 CYP11B2 CYP21A2
3 chloride channel inhibitor activity GO:0019869 9.16 WNK1 WNK4
4 potassium channel inhibitor activity GO:0019870 8.96 WNK1 WNK4
5 heme binding GO:0020037 8.92 ABCB6 CYP11B2 CYP21A2 MB

Sources for Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....