Phenotype: Hypokalemia (HP:0002900)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: ORPHA:411629
disease_name: Infantile nephropathic cystinosis
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: SCNN1B
disease_id: OMIM:177200
disease_name: LIDDLE SYNDROME 1
gene_symbol: SCNN1B
disease_id: ORPHA:526
disease_name: Liddle syndrome
Pseudoaldosteronism
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: CACNA1D
disease_id: OMIM:615474
disease_name: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: SLC4A1
disease_id: OMIM:611590
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
gene_symbol: SLC4A1
disease_id: OMIM:179800
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 1
gene_symbol: CACNA1S
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: CACNA1S
disease_id: OMIM:188580
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
gene_symbol: SCN4A
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: SCN4A
disease_id: OMIM:613345
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
gene_symbol: SCN4A
disease_id: ORPHA:682
disease_name: Hyperkalemic periodic paralysis
Adynamia episodica hereditaria
Familial hyperPP
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HYPP
HyperKPP
HyperPP
Hyperkalemic PP
Primary hyperPP
Primary hyperkalemic periodic paralysis
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: HSD11B2
disease_id: OMIM:218030
disease_name: APPARENT MINERALOCORTICOID EXCESS
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: NR3C1
disease_id: ORPHA:786
disease_name: Generalized glucocorticoid resistance syndrome
gene_symbol: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SCNN1G
disease_id: OMIM:618114
disease_name: LIDDLE SYNDROME 2
gene_symbol: SCNN1G
disease_id: ORPHA:526
disease_name: Liddle syndrome
Pseudoaldosteronism
gene_symbol: GATM
disease_id: OMIM:134600
disease_name: FANCONI RENOTUBULAR SYNDROME 1
gene_symbol: GATM
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: CYP11B1
disease_id: OMIM:202010
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: CYP11B1
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
gene_symbol: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: SERPINA6
disease_id: OMIM:611489
disease_name: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: NDUFAF6
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: SLC34A1
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: CALM1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: OMIM:613677
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE III
gene_symbol: KCNJ5
disease_id: ORPHA:251274
disease_name: Familial hyperaldosteronism type III
FH-III
FH3
Familial hyperaldosteronism type 3
gene_symbol: CALM2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TBX5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN10A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNH2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: AKAP9
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: NOS1AP
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CACNA1C
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNQ1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TRDN
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN5A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN4B
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SNTA1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CAV3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: ANK2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: FXYD2
disease_id: OMIM:154020
disease_name: HYPOMAGNESEMIA 2, RENAL
gene_symbol: CLDN10
disease_id: OMIM:617671
disease_name: HELIX SYNDROME
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: SCNN1A
disease_id: OMIM:618126
disease_name: LIDDLE SYNDROME 3
gene_symbol: SCNN1A
disease_id: ORPHA:526
disease_name: Liddle syndrome
Pseudoaldosteronism
gene_symbol: PMS2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH6
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: NTHL1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MCM9
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLD1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: AXIN2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CDH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MBD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLE
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: GREM1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: EPCAM
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BMPR1A
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CTNNA1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: APC
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: RNF43
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MUTYH
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: CLCN2
disease_id: ORPHA:404
disease_name: Familial hyperaldosteronism type II
FH-II
FH2
Familial hyperaldosteronism type 2
gene_symbol: CLCN2
disease_id: OMIM:605635
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE II
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CYP11B2
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: AIP
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: USP8
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis