Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Synonyms: HUPRA syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | HUPRA syndrome |
| fr | Syndrome d'hyperuricémie-hypertension artérielle pulmonaire-insuffisance rénale-alcalose | Syndrome HUPRA |
| de | Hyperurikämie-pulmonale Hypertension- Nierenversagen-Alkalose-Syndrom | HUPRA-Syndrom |
| es | Síndrome de hiperuricemia-hipertensión pulmonar-insuficiencia renal-alcalosis | Síndrome HUPRA |
| it | Sindrome iperuricemia-ipertensione polmonare-insufficienza renale-alcalosi | Sindrome HUPRA |
| nl | Hyperurikemie - pulmonale hypertensie - nierfalen - alkalose-syndroom | HUPRA-syndroom |
| pt | Síndrome de hiperuricémia hipertensão pulmonar falência renal alcalose | |
| pl | Zespół hiperurykemia-nadciśnienie płucne-niewydolność nerek-zasadowica | Zespół HUPRA |
| cs | Syndrom zahrnující hyperurikémii, plicní hypertenzi, renální selhání a alkalózu | HUPRA syndrom |
| uk | Синдром гіперурикемії-легеневої гіпертензії-ниркової недостатності-алкалозу | Синдром HUPRA |
| zh | 高尿酸血症-肺动脉高压-肾衰-碱中毒综合征 | HURPA综合征 |
| tr | Hiperürisemi-pulmoner hipertansiyon-böbrek yetmezliği-alkaloz sendromu | HUPRA sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613845 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0013458 | E | validated | |
| UMLS | C3151209 | 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 (5):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:275853Syndrome with pulmonary hypertension as a major feature
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SARS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17697 | ENSG00000104835 | 612804 | 19q13.2 | seryl-tRNA synthetase 2, mitochondrial | 21255763[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 21255763[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363694
- This record as JSON: /data/d/363694.json