ORPHA:757
Pseudohypoaldosteronism type 2
Synonyms: Chloride shunt syndrome · Familial hyperkalemic hypertension · Gordon hyperkalemia-hypertension syndrome · Hyperkalemia-hypertension syndrome, Gordon type · Hypertensive hyperkalemia · Mineralocorticoid resistant hyperkalemia · PHA2 · PHAII · Spitzer-Weinstein syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoaldosteronism type 2 | Chloride shunt syndrome · Familial hyperkalemic hypertension · Gordon hyperkalemia-hypertension syndrome · Hyperkalemia-hypertension syndrome, Gordon type · Hypertensive hyperkalemia · Mineralocorticoid resistant hyperkalemia · PHA2 · PHAII · Spitzer-Weinstein syndrome |
| fr | Pseudohypoaldostéronisme type 2 | Hyperkaliémie minéralocorticoïde résistante · Hyperkaliémie-hypertension type Gordon · Hypertension hyperkaliémique · Hypertension hyperkaliémique de Gordon · Hypertension hyperkaliémique familiale · PHA2 · PHAII · Syndrome de Spitzer-Weinstein · Syndrome du shunt au chlore |
| de | Pseudohypoaldosteronismus Typ 2 | Chlorid-Shunt-Syndrom · Hyperkaliämie - Hypertension, Typ Gordon · Hyperkaliämie, Mineralocorticoid-resistente · Hyperkaliämie, hypertensive · Hypertonie, hyperkaliämische familiäre · PHA2 · PHAII · Spitzer-Weinstein-Syndrom |
| es | Pseudohipoaldosteronismo tipo 2 | Síndrome de hiperpotasemia-hipertensión de Gordon · Síndrome del 'shunt' de cloro · Hiperpotasemia hipertensiva · Hiperpotasemia resistente a mineralocorticoides · Hiperpotasemia-hipertensión tipo Gordon · Hipertensión hiperpotasémica familiar · PHA2 · PHAII · Síndrome de Spitzer-Weinstein |
| it | Pseudoipoaldosteronismo, tipo 2 | Iperkaliemia - ipertensione, tipo Gordon · Iperkaliemia ipertensiva · Iperkaliemia resistente ai mineralcorticoidi · Ipertensione iperkaliemica familiare · PHA2 · PHAII · Sindrome da shunt dei cloruri · Sindrome di Spitzer-Weinstein · Sindrome iperkaliemia-ipertensione, tipo Gordomn |
| nl | Pseudohypoaldosteronisme type 2 | Chlorideshunt-syndroom · Familiale hyperkaliëmische hypertensie · Hyperkaliëmie - hypertensie-syndroom van Gordon · Hyperkaliëmie - hypertensie-syndroom, Gordon-type · Hypertensieve hyperkaliëmie · Mineralocorticoïderesistente hyperkaliëmie · PHA2 · PHAII · Syndroom van Spitzer-Weinstein |
| pt | Pseudo-hipoaldosteronismo tipo 2 | Hipercaliémia hipertensiva · PHA2 · PHAII · Síndrome Spitzer-Weinstein · Síndrome de hipercaliémia-hipertensão de Gordon · Síndrome de hipercaliémia-hipertensão, tipo Gordon |
| pl | Pseudohipoaldosteronizm typu 2 | Chloride shunt syndrome · Hiperkaliemia - nadciśnienie, typu Gordona · Hiperkaliemia hipertensyjna · Hiperkaliemia oporna na mineralokortykoidy · PHA2 · PHAII · Rodzinne nadciśnienie hiperkaliemiczne · Zespół Gordona hiperkaliemia-nadciśnienie · Zespół Spitzera i Weinsteina |
| cs | Pseudohypoaldosteronismus, typ 2 | Syndrom chloridového shuntu · Familiární hyperkalemická hypertenze · Syndrom zahrnující Gordonovu hyperkalemii a hypertenzi · Hypertenzní hyperkalemie · Mineralokortikoid-rezistentní hyperkalemie · PHA2 · PHAII · Syndrom zahrnující hyperkalemii a hypertenzi, Gordonův typ · Spitzerův-Weinsteinův syndrom · Spitzer-Weinsteinův syndrom |
| uk | Псевдогіпоальдостеронізм, тип 2 | Синдром хлоридного шунта · Сімейна гіперкаліємічна гіпертензія · Синдром гіперкаліємії-гіпертензії Гордона · Гіперкаліємічно-гіпертензивний синдром, тип Гордона · Гіпертонічна гіперкаліємія · Резистентна до мінералокортикоїдів гіперкаліємія · PHA2 · PHAII · Синдром Шпітцера-Вайнштейна |
| zh | 假性醛固酮减少症2型 | 高钾血症-高血压综合征，Gordon型 |
| tr | Psödohipoaldosteronizm tip 2 | PHA2 · PHAII · Klorür şant sendromu · Hipertansif hiperkalemi · Spitzer-Weinstein sendromu · Ailesel hiperkalemik hipertansiyon · Mineralokortikoid dirençli hiperkalemi · Gordon hiperkalemi-hipertansiyon sendromu · Hiperkalemi-hipertansiyon sendromu, Gordon tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145260 | BTNT | validated | |
| OMIM | 614491 | BTNT | validated | |
| OMIM | 614492 | BTNT | validated | |
| OMIM | 614495 | BTNT | validated | |
| OMIM | 614496 | BTNT | validated | |
| ICD-10 | I15.1 | NTBT | attributed | validated |
| ICD-11 | BA04.Y | NTBT | index | validated |
| MONDO | 0019162 | E | validated | |
| UMLS | C1449844 | E | validated | |
| GARD | 4553 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:444916Pseudohypoaldosteronism
rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CUL3 | ORPHA:300530Pseudohypoaldosteronism type 2E | Disease-causing germline mutation(s) in | Assessed | HGNC:2553 | ENSG00000036257 | 603136 | 2q36.2 | cullin 3 | 22073419[PMID] |
| KLHL3 | ORPHA:300525Pseudohypoaldosteronism type 2D | Disease-causing germline mutation(s) in | Assessed | HGNC:6354 | ENSG00000146021 | 605775 | 5q31.2 | kelch like family member 3 | 22073419[PMID] |
| WNK1 | ORPHA:88940Pseudohypoaldosteronism type 2C | Disease-causing germline mutation(s) in | Assessed | HGNC:14540 | ENSG00000060237 | 605232 | 12p13.33 | WNK lysine deficient protein kinase 1 | 22073419[PMID] |
| WNK4 | ORPHA:88939Pseudohypoaldosteronism type 2B | Disease-causing germline mutation(s) in | Assessed | HGNC:14544 | ENSG00000126562 | 601844 | 17q21.2 | WNK lysine deficient protein kinase 4 | 22073419[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 180 cases | Worldwide | Case(s) | Validated | 22073419[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_22073419[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002153 | Hyperkalemia | |
| HP:0000822 | Hypertension | |
| Frequent (79-30%) | ||
| HP:0002017 | Nausea and vomiting | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001510 | Growth delay | |
| HP:0001324 | Muscle weakness | |
| HP:0003768 | Periodic paralysis | |
| HP:0004322 | Short stature | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/757
- This record as JSON: /data/d/757.json