MCID: PSD063
MIFTS: 46

Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak

Categories: Rare diseases, Metabolic diseases, Genetic diseases, Blood 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 57 75 29 13 6 73
Pseudohyperkalemia Cardiff 57 53 75 29 6 73
Pseudohyperkalemia East London 57 75
Pseudohyperkalemia Chiswick 57 75
Familial Pseudohyperkalemia 59 37
Pseudohyperkalemia Falkirk 57 75
Pseudohyperkalemia Lille 57 75
Cryohydrocytosis, Mild 57 75
Pshk2 57 75
Stomatocytosis, Cold-Sensitive 53
Pseudohyperkalemia, Familial 13
Cryohydrocytosis 53
Hyperkalemia 44

Characteristics:

Orphanet epidemiological data:

59
familial pseudohyperkalemia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
pseudohyperkalemia, familial, 2, due to red cell leak:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609153
Orphanet 59 ORPHA90044
ICD10 via Orphanet 34 D58.8
UMLS via Orphanet 74 C1836705
MedGen 42 C1836705
MeSH 44 D006947
KEGG 37 H02001
ICD10 33 E87.5

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

OMIM : 57 '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 pseudohypoaldosteronism, type i, autosomal recessive and stomatin-deficient cryohydrocytosis with neurologic defects. 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 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include whole blood and testes, and related phenotypes are hypertension and reticulocytosis

UniProtKB/Swiss-Prot : 75 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 : 76 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 71)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i, autosomal recessive 32.2 NR3C2 REN SCNN1G
2 stomatin-deficient cryohydrocytosis with neurologic defects 12.5
3 cryohydrocytosis 12.4
4 pseudohypoaldosteronism, type iia 11.8
5 pseudohypoaldosteronism, type iie 11.8
6 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3
7 pseudohypoaldosteronism, type iid 11.0
8 stomatocytosis i 10.9
9 hyporeninemic hypoaldosteronism 10.7 ACE REN
10 renal artery obstruction 10.7 ACE REN
11 familial hypertension 10.7 WNK1 WNK4
12 hypertensive encephalopathy 10.6 ACE REN
13 tick paralysis 10.6 PIK3C2A SLC4A1
14 hypertensive retinopathy 10.6 ACE REN
15 renal artery disease 10.6 ACE REN
16 hypertension, diastolic 10.6 ACE REN
17 acute anterolateral myocardial infarction 10.5 ACE PIK3C2A
18 orthostatic proteinuria 10.5 ACE REN
19 fiedler's myocarditis 10.5 ACE PIK3C2A
20 atrial septal defect 4 10.4 ACE REN
21 familial vesicoureteral reflux 10.4 ACE AGTR2
22 bartter syndrome, type 2, antenatal 10.4 KCNJ1 NR3C2 SCNN1G
23 hypokalemia 10.4 ACE KCNJ1 REN
24 multicystic dysplastic kidney 10.4 AGTR2 REN
25 pseudohypoaldosteronism, type i, autosomal dominant 10.3 NR3C2 REN SCNN1G
26 malignant secondary hypertension 10.3 AGTR2 REN
27 hypoaldosteronism 10.3 ACE CYP11B2 REN
28 acute adrenal insufficiency 10.3 CYP21A2 REN
29 hypertensive heart disease 10.3 ACE CYP11B2 NR3C2
30 hyperaldosteronism, familial, type i 10.3 CYP11B2 NR3C2 REN
31 adrenal cortex disease 10.2 CYP11B2 NR3C2 REN
32 adrenal gland disease 10.2 CYP11B2 NR3C2 REN
33 virus associated hemophagocytic syndrome 10.2 MB PIK3C2A
34 visual agnosia 10.2 MB SLC4A1
35 endocrine organ benign neoplasm 10.2 CYP11B2 NR3C2 REN
36 posterior urethral valves 10.2 ACE AGTR2
37 respiratory failure 10.2 ACE PIK3C2A SLC4A1
38 interstitial myocarditis 10.2 MB PIK3C2A
39 apparent mineralocorticoid excess 10.2 NR3C2 PIK3C2A REN
40 pulmonary edema 10.2 ACE PIK3C2A REN
41 arthrogryposis, distal, type 3 10.2 NR3C2 REN WNK1 WNK4
42 malignant essential hypertension 10.1 ACE AGTR2 REN
43 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1 MB PIK3C2A
44 renal tubular acidosis 10.1 NR3C2 REN SCNN1G SLC4A1
45 arteries, anomalies of 10.1 ACE MB REN
46 creatine phosphokinase, elevated serum 10.1 MB PIK3C2A
47 posterior myocardial infarction 10.0 MB PIK3C2A
48 intermediate coronary syndrome 10.0 ACE MB PIK3C2A
49 acute mountain sickness 10.0 ACE MB PIK3C2A
50 acute kidney failure 9.9 MB PIK3C2A REN

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
no significant hemolysis
normal red cell morphology
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

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

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 reticulocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001923
3 increased mean corpuscular volume 59 32 occasional (7.5%) Occasional (29-5%) HP:0005518
4 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
5 episodic hemolytic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0004802
6 stomatocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0004446

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

46
# 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 10.16 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 FOLR1 KCNJ1 MB NR3C2
6 muscle MP:0005369 9.5 AGTR2 MB NR3C2 REN SCN4A SLC4A1
7 renal/urinary system MP:0005367 9.44 AGTR2 CYP11B2 FOLR1 KCNJ1 NR3C2 PIK3C2A

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 29 ABCB6
2 Pseudohyperkalemia Cardiff 29 SLC4A1 SLC4A11

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

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

41
Whole Blood, Testes

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

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

# 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 cause of hyperkalemia. ( 16157991 )
2005
5
Familial pseudohyperkalemia: a rare syndrome, but diverse genetic heterogeneity. ( 16157971 )
2005
6
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). ( 10216110 )
1999

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:

75
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB6 NM_005689.3(ABCB6): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs754667801 GRCh37 Chromosome 2, 220080749: 220080749
2 ABCB6 NM_005689.3(ABCB6): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs754667801 GRCh38 Chromosome 2, 219216027: 219216027
3 ABCB6 NM_005689.3(ABCB6): c.1123C> T (p.Arg375Trp) single nucleotide variant Pathogenic rs764893806 GRCh37 Chromosome 2, 220080750: 220080750
4 ABCB6 NM_005689.3(ABCB6): c.1123C> T (p.Arg375Trp) single nucleotide variant Pathogenic rs764893806 GRCh38 Chromosome 2, 219216028: 219216028
5 ABCB6 NM_005689.3(ABCB6): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic rs148211042 GRCh37 Chromosome 2, 220075521: 220075521
6 ABCB6 NM_005689.3(ABCB6): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic rs148211042 GRCh38 Chromosome 2, 219210799: 219210799
7 SLC4A1 NM_000342.3(SLC4A1): c.2191T> C (p.Ser731Pro) single nucleotide variant Pathogenic rs863225461 GRCh37 Chromosome 17, 42330606: 42330606
8 SLC4A1 NM_000342.3(SLC4A1): c.2191T> C (p.Ser731Pro) single nucleotide variant Pathogenic rs863225461 GRCh38 Chromosome 17, 44253238: 44253238
9 SLC4A1 NM_000342.3(SLC4A1): c.2201A> G (p.His734Arg) single nucleotide variant Pathogenic rs863225462 GRCh37 Chromosome 17, 42330596: 42330596
10 SLC4A1 NM_000342.3(SLC4A1): c.2201A> G (p.His734Arg) single nucleotide variant Pathogenic rs863225462 GRCh38 Chromosome 17, 44253228: 44253228
11 SLC4A1 NM_000342.3(SLC4A1): c.2060T> C (p.Leu687Pro) single nucleotide variant Pathogenic rs863225463 GRCh37 Chromosome 17, 42330737: 42330737
12 SLC4A1 NM_000342.3(SLC4A1): c.2060T> C (p.Leu687Pro) single nucleotide variant Pathogenic rs863225463 GRCh38 Chromosome 17, 44253369: 44253369
13 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Uncertain significance rs200926310 GRCh37 Chromosome 2, 227877028: 227877028
14 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Uncertain significance rs200926310 GRCh38 Chromosome 2, 227012312: 227012312
15 COL4A4 NM_000092.4(COL4A4): c.3055G> C (p.Glu1019Gln) single nucleotide variant Uncertain significance rs1057518854 GRCh37 Chromosome 2, 227915788: 227915788
16 COL4A4 NM_000092.4(COL4A4): c.3055G> C (p.Glu1019Gln) single nucleotide variant Uncertain significance rs1057518854 GRCh38 Chromosome 2, 227051072: 227051072
17 CLCN5 NM_000084.4(CLCN5): c.1341del (p.Met448Terfs) deletion Likely pathogenic GRCh37 Chromosome X, 49851521: 49851521
18 CLCN5 NM_000084.4(CLCN5): c.1341del (p.Met448Terfs) deletion Likely pathogenic 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

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 plasma membrane GO:0005886 9.7 ABCB6 ACE AGTR2 FOLR1 KCNJ1 PIK3C2A
2 membrane GO:0016020 9.53 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 16)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.72 SCN4A SCNN1G SLC4A11
2 sodium ion transmembrane transport GO:0035725 9.63 SCN4A SCNN1G SLC4A11
3 sterol metabolic process GO:0016125 9.56 CYP11B2 CYP21A2
4 regulation of cellular process GO:0050794 9.54 WNK1 WNK4
5 regulation of blood pressure GO:0008217 9.54 ACE AGTR2 REN
6 amyloid-beta metabolic process GO:0050435 9.52 ACE REN
7 regulation of blood vessel diameter GO:0097746 9.51 ACE AGTR2
8 sodium ion homeostasis GO:0055078 9.49 CYP11B2 SCNN1G
9 angiotensin maturation GO:0002003 9.48 ACE REN
10 glucocorticoid biosynthetic process GO:0006704 9.43 CYP11B2 CYP21A2
11 ion homeostasis GO:0050801 9.4 SLC4A11 WNK4
12 positive regulation of ion transmembrane transporter activity GO:0032414 9.32 WNK1 WNK4
13 negative regulation of pancreatic juice secretion GO:0090188 9.26 WNK1 WNK4
14 ion transport GO:0006811 9.17 KCNJ1 SCN4A SCNN1G SLC4A1 SLC4A11 WNK1
15 mineralocorticoid biosynthetic process GO:0006705 9.16 CYP11B2 CYP21A2
16 renin-angiotensin regulation of aldosterone production GO:0002018 8.96 AGTR2 REN

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 anion:anion antiporter activity GO:0015301 9.37 SLC4A1 SLC4A11
2 anion transmembrane transporter activity GO:0008509 9.32 SLC4A1 SLC4A11
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC4A1 SLC4A11
4 heme binding GO:0020037 9.26 ABCB6 CYP11B2 CYP21A2 MB
5 chloride channel inhibitor activity GO:0019869 9.16 WNK1 WNK4
6 sodium channel activity GO:0005272 8.8 SCN4A SCNN1G SLC4A11

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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