Familial pseudohyperkalemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high <i>in vitro</i> potassium levels in samples stored below 37 C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial pseudohyperkalemia | |
| fr | Pseudohyperkaliémie familiale | |
| de | Pseudohyperkaliämie, familiäre | |
| es | Pseudohiperpotasemia familiar | |
| it | Pseudoiperkaliemia familiare | |
| nl | Familiale pseudohyperkaliëmie | |
| pt | Pseudo-hipercaliemia familiar | |
| pl | Rodzinna pseudohiperkalemia | |
| cs | Familiární pseudohyperkalemie | |
| uk | Сімейна псевдогіперкаліємія | |
| zh | 家族性假高血钾症 | |
| tr | ailesel psödohiperkalemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609153 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 3A10.3 | E | specific | validated |
| MONDO | 0012204 | E | validated | |
| UMLS | C4273970 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:100040OBSOLETE: Familial pseudohyperkalemia type 2 referred to · inactive
- ORPHA:100041OBSOLETE: Familial pseudohyperkalemia, Cardiff type referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCB6 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:47 | ENSG00000115657 | 605452 | 2q35 | ATP binding cassette subfamily B member 6 (LAN blood group) | 23180570[PMID]_24947683[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2016-09-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002153 | Hyperkalemia | |
| Frequent (79-30%) | ||
| HP:0000822 | Hypertension | |
| HP:0004446 | Stomatocytosis | |
| Occasional (29-5%) | ||
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0001923 | Reticulocytosis | |
| Very rare (<4-1%) | ||
| HP:0004802 | Episodic hemolytic anemia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23180570[PMID]_11918557[PMID]_24947683[PMID]_15142123[PMID]_11918557[PMID]_11167849[PMID]_1929192[PMID]_2766660[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90044
- This record as JSON: /data/d/90044.json